Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.
Defective bone formation involving individual bones, singly or in combination.
A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
A set of twelve curved bones which connect to the vertebral column posteriorly, and terminate anteriorly as costal cartilage. Together, they form a protective cage around the internal thoracic organs.
The facial skeleton, consisting of bones situated between the cranial base and the mandibular region. While some consider the facial bones to comprise the hyoid (HYOID BONE), palatine (HARD PALATE), and zygomatic (ZYGOMA) bones, MANDIBLE, and MAXILLA, others include also the lacrimal and nasal bones, inferior nasal concha, and vomer but exclude the hyoid bone. (Jablonski, Dictionary of Dentistry, 1992, p113)
Excessive hair growth at inappropriate locations, such as on the extremities, the head, and the back. It is caused by genetic or acquired factors, and is an androgen-independent process. This concept does not include HIRSUTISM which is an androgen-dependent excess hair growth in WOMEN and CHILDREN.

Craniofacial sutures: morphology, growth, and in vivo masticatory strains. (1/66)

The growth and morphology of craniofacial sutures are thought to reflect their functional environment. However, little is known about in vivo sutural mechanics. The present study investigates the strains experienced by the internasal, nasofrontal, and anterior interfrontal sutures during masticatory activity in 4-6-month-old miniature swine (Sus scrofa). Measurements of the bony/fibrous arrangements and growth rates of these sutures were then examined in the context of their mechanical environment. Large tensile strains were measured in the interfrontal suture (1,036 microepsilon +/- 400 SD), whereas the posterior internasal suture was under moderate compression (-440 microepsilon +/- 238) and the nasofrontal suture experienced large compression (-1,583 microepsilon +/- 506). Sutural interdigitation was associated with compressive strain. The collagen fibers of the internasal and interfrontal sutures were clearly arranged to resist compression and tension, respectively, whereas those of the nasofrontal suture could not be readily characterized as either compression or tension resisting. The average linear rate of growth over a 1-week period at the nasofrontal suture (133.8 micrometer, +/- 50.9 S.D) was significantly greater than that of both the internasal and interfrontal sutures (39.2 micrometer +/- 11.4 and 65. 5 micrometer +/- 14.0, respectively). Histological observations suggest that the nasofrontal suture contains chondroid tissue, which may explain the unexpected combination of high compressive loading and rapid growth in this suture.  (+info)

Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. (2/66)

Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine the parental origin of these FGFR2 mutations, the amplification refractory mutation system (ARMS) was used. ARMS PCR primers were developed to recognize polymorphisms that could distinguish maternal and paternal alleles. A total of 4,374 bases between introns IIIa and 11 of the FGFR2 gene were sequenced and were assayed by heteroduplex analysis, to identify polymorphisms. Two polymorphisms (1333TA/TATA and 2710 C/T) were found and were used with two previously described polymorphisms, to screen a total of 41 families. Twenty-two of these families were shown to be informative (11 for Crouzon syndrome and 11 for Pfeiffer syndrome). Eleven different mutations in the 22 families were detected by either restriction digest or allele-specific oligonucleotide hybridization of ARMS PCR products. We molecularly proved the origin of these different mutations to be paternal for all informative cases analyzed (P=2. 4x10-7; 95% confidence limits 87%-100%). Advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the fathers of control individuals (34. 50+/-7.65 years vs. 30.45+/-1.28 years, P<.01). Our data on advanced paternal age corroborates and extends previous clinical evidence based on statistical analyses as well as additional reports of advanced paternal age associated with paternal origin of three sporadic mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3). Our results suggest that older men either have accumulated or are more susceptible to a variety of germline mutations.  (+info)

Signaling by fibroblast growth factors (FGF) and fibroblast growth factor receptor 2 (FGFR2)-activating mutations blocks mineralization and induces apoptosis in osteoblasts. (3/66)

Fibroblast growth factors (FGF) play a critical role in bone growth and development affecting both chondrogenesis and osteogenesis. During the process of intramembranous ossification, which leads to the formation of the flat bones of the skull, unregulated FGF signaling can produce premature suture closure or craniosynostosis and other craniofacial deformities. Indeed, many human craniosynostosis disorders have been linked to activating mutations in FGF receptors (FGFR) 1 and 2, but the precise effects of FGF on the proliferation, maturation and differentiation of the target osteoblastic cells are still unclear. In this report, we studied the effects of FGF treatment on primary murine calvarial osteoblast, and on OB1, a newly established osteoblastic cell line. We show that FGF signaling has a dual effect on osteoblast proliferation and differentiation. FGFs activate the endogenous FGFRs leading to the formation of a Grb2/FRS2/Shp2 complex and activation of MAP kinase. However, immature osteoblasts respond to FGF treatment with increased proliferation, whereas in differentiating cells FGF does not induce DNA synthesis but causes apoptosis. When either primary or OB1 osteoblasts are induced to differentiate, FGF signaling inhibits expression of alkaline phosphatase, and blocks mineralization. To study the effect of craniosynostosis-linked mutations in osteoblasts, we introduced FGFR2 carrying either the C342Y (Crouzon syndrome) or the S252W (Apert syndrome) mutation in OB1 cells. Both mutations inhibited differentiation, while dramatically inducing apoptosis. Furthermore, we could also show that overexpression of FGF2 in transgenic mice leads to increased apoptosis in their calvaria. These data provide the first biochemical analysis of FGF signaling in osteoblasts, and show that FGF can act as a cell death inducer with distinct effects in proliferating and differentiating osteoblasts.  (+info)

New surgical concepts resulting from cranio-orbito-facial surgery. (4/66)

The authors have defined the subspecialty of craniofacial surgery and described the organization of the multi-disciplinary team required to care for such patients. Common features of the craniofacial patient have been summarized and three major categories of patients have been proposed. These are: I. Syndromes associated with hypertelorism; II. Syndromes associated with premature synostoses or growth arrests; III. Syndromes associated with primarily mid- and lower face anomalies. Growing out of an experience with 242 operations on 106 patients, the authors have listed 9 relatively new surgical "principles." Each has led to a current surgical approach that is now being employed by the craniofacial team at The University of Virginia. A number of examples are given to show ways in which the lessons learned from the craniofacial patients are now being applied, with improved results, to patients with neoplasms, traumatic injuries, or other conditions.  (+info)

Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses. (5/66)

BACKGROUND AND PURPOSE: Jugular foraminal stenosis (JFS) or atresia (JFA) with collateral emissary veins (EV) has been documented in syndromic craniosynostosis. Disruption of EV during surgery can produce massive hemorrhage. Our purpose was to describe the prevalence of prominent basal emissary foramina (EF), which transmit enlarged EV, in syndromic craniosynostosis. Our findings were correlated with phenotypic and molecular diagnoses. METHODS: We reviewed the medical records and imaging examinations of 33 patients with syndromic craniosynostosis and known fibroblast growth factor receptor (FGFR) mutations. All patients underwent CT and 14 MR imaging. The cranial base was assessed for size of occipitomastoid EF and jugular foramina (JF). Vascular imaging studies were available from 12 patients. A control group (n = 76) was used to establish normal size criteria for JF and EF. RESULTS: Phenotypic classification included Crouzon syndrome (n = 10), crouzonoid features with acanthosis nigricans (n = 3), Apert syndrome (n = 10), Pfeiffer syndrome (n = 4), and clinically unclassifiable bilateral coronal synostosis (n = 6). EF > or = 3 mm in diameter and JFS or JFA were identified in 23 patients with various molecular diagnoses. Vascular imaging in patients with JFS or JFA and enlarged EF revealed atresia or stenosis of the jugular veins and enlarged basal EV. JFA was seen in all patients with the FGFR3 mutation with crouzonoid features and acanthosis nigricans. Four patients had prominent EF without JFS. Six patients had normal JF and lacked enlarged EF. CONCLUSION: Enlarged basal EF are common in syndromic craniosynostosis and are usually associated with JFS or JFA. Bilateral basilar venous atresia is most common in patients with the FGFR3 ala391glu mutation and crouzonoid features with acanthosis nigricans, but may be found in patients with FGFR2 mutations. Skull base vascular imaging should be obtained in patients with syndromic craniosynostosis with enlarged EF.  (+info)

Role of the extracellular matrix and growth factors in skull morphogenesis and in the pathogenesis of craniosynostosis. (6/66)

The complex and largely obscure regulatory processes that underlie ossification and fusion of the sutures during skull morphogenesis are dependent on the conditions of the extracellular microenvironment. The concept that growth factors are involved in the pathophysiology of craniosynostosis due to premature fusion of skull bone sutures, is supported by recent genetic data. Crouzon and Apert syndromes, for example, are characterized by point mutations in the extracellular or transmembrane domains of fibroblast growth factor-2 receptor. In primary cultures of periosteal fibroblasts and osteoblasts obtained from Apert and Crouzon patients, we observed that Crouzon and Apert cells behaved differently with respect to normal cells as regards the expression of cytokines and extracellular matrix (ECM) macromolecule accumulation. Further modulation of ECM components observed after the addition of cytokines provides support for an autocrine involvement of these cytokines in Crouzon and Apert phenotype. Changes in ECM composition could explain the altered osteogenic process and account for pathological variations in cranial development. We suggest that a correlation exists between in vitro phenotype, clinical features and genotype in the two craniosynostotic syndromes. New research into signal transduction pathways should establish further connections between the mutated genotype and the molecular biology of the cellular phenotype.  (+info)

The prenatal diagnosis of Binder syndrome before 24 weeks of gestation: case report. (7/66)

A case of Binder syndrome was diagnosed at 21 weeks of gestation using two-dimensional and three-dimensional ultrasound. The first indication of any abnormality was a flattened fetal nose demonstrated in the mid-sagittal plane. Further ultrasound imaging showed the virtual absence of the naso-frontal angle, giving the impression of a flat forehead and small fetal nose. Suspected mild hypertelorism was also seen using transverse and coronal planes. Differential diagnosis of this condition is discussed.  (+info)

Stenosis of the cervical canal in craniodiaphyseal dysplasia. (8/66)

Craniodiaphyseal dysplasia (CDD) is a rare sclerosing bone disorder, the severity of which depends on its phenotypic expression. Hyperostosis can cause progressive foraminal stenosis leading to palsy of cranial nerves, epilepsy and mental retardation. We report the only case of CDD in an adult, with stenosis of the cervical canal leading to quadriparesis as a late complication of hyperostosis, and describe the problems associated with its treatment. Although the syndrome is rare, its pathophysiological and therapeutic considerations may be applicable to the management of stenosis of the spinal canal in other hyperostotic bone disorders.  (+info)

Craniofacial dysostosis is a term used to describe a group of rare genetic disorders that affect the development of the skull and face. These conditions are characterized by cranial and facial abnormalities, including a misshapen head, wide-set eyes, a beaked nose, and underdeveloped jaws.

The most common type of craniofacial dysostosis is Crouzon syndrome, which is caused by mutations in the FGFR2 gene. Other types include Apert syndrome (caused by mutations in the FGFR2 or FGFR3 gene), Pfeiffer syndrome (caused by mutations in the FGFR1 or FGFR2 gene), and Saethre-Chotzen syndrome (caused by mutations in the TWIST1 gene).

These conditions can vary in severity, but they often cause complications such as breathing difficulties, vision problems, hearing loss, and developmental delays. Treatment typically involves a team of specialists, including craniofacial surgeons, orthodontists, ophthalmologists, and audiologists, and may include surgery to correct the structural abnormalities and improve function.

Dysostosis is a term used to describe a group of genetic disorders that are characterized by abnormal development and formation of one or more bones in the body. The condition is typically present at birth (congenital) and can affect any bone, but it most commonly involves the bones of the skull, face, hands, and feet.

The term "dysostosis" comes from the Greek words "dys," meaning difficult or abnormal, and "osteon," meaning bone. Dysostoses are usually caused by mutations in specific genes that regulate bone development. These genetic changes can be inherited from one or both parents or can occur spontaneously during fetal development.

There are many different types of dysostoses, each with its own set of symptoms and characteristics. Some common examples include:

1. Cleidocranial Dysplasia: This is a rare genetic disorder that affects the development of the skull and collarbones (cleido). People with cleidocranial dysplasia may have a larger than normal head, wide-set eyes, a prominent forehead, and underdeveloped or missing collarbones.
2. Acrocephalopolysyndactyly Type II: Also known as ACPS II or Greig cephalopolysyndactyly syndrome, this disorder is characterized by a pointed skull (acrocephaly), extra fingers and toes (polydactyly), and wide-set eyes.
3. Osteogenesis Imperfecta: This is a group of genetic disorders that affect the body's production of collagen, a protein that helps to strengthen bones. People with osteogenesis imperfecta have fragile bones that break easily, often as a result of minor trauma.
4. Diastrophic Dysplasia: This is a rare genetic disorder that affects the development of the bones and cartilage in the body. People with diastrophic dysplasia may have short limbs, a deformed spine, and a characteristic "hitchhiker's thumb" appearance.
5. Thanatophoric Dysplasia: This is a severe genetic disorder that affects the development of the bones in the body. People with thanatophoric dysplasia have very short limbs, a small chest, and a deformed skull. The condition is often fatal in infancy or early childhood.

These are just a few examples of the many different types of skeletal dysplasias that exist. While some forms of these disorders can be managed with medical treatment and therapy, others may require surgery or other interventions to help improve quality of life. In some cases, genetic counseling and testing may be recommended for individuals who are considering starting a family and have a history of skeletal dysplasia in their family.

Mandibulofacial dysostosis is a genetic disorder that affects the development of the face and jaw. It is characterized by underdevelopment of the lower jaw (mandible) and facial bones, which can result in distinctive facial features such as a small chin, cleft palate, hearing loss, and dental abnormalities. This condition is often associated with other health issues, including respiratory problems and developmental delays. Mandibulofacial dysostosis is typically inherited in an autosomal dominant pattern, which means that only one copy of the altered gene is necessary to cause the disorder. It can also occur spontaneously due to a new genetic mutation. The specific symptoms and severity of mandibulofacial dysostosis can vary widely from person to person.

Craniofacial abnormalities refer to a group of birth defects that affect the development of the skull and face. These abnormalities can range from mild to severe and may involve differences in the shape and structure of the head, face, and jaws, as well as issues with the formation of facial features such as the eyes, nose, and mouth.

Craniofacial abnormalities can be caused by genetic factors, environmental influences, or a combination of both. Some common examples of craniofacial abnormalities include cleft lip and palate, craniosynostosis (premature fusion of the skull bones), and hemifacial microsomia (underdevelopment of one side of the face).

Treatment for craniofacial abnormalities may involve a team of healthcare professionals, including plastic surgeons, neurosurgeons, orthodontists, speech therapists, and other specialists. Treatment options may include surgery, bracing, therapy, and other interventions to help improve function and appearance.

In medical terms, ribs are the long, curved bones that make up the ribcage in the human body. They articulate with the thoracic vertebrae posteriorly and connect to the sternum anteriorly via costal cartilages. There are 12 pairs of ribs in total, and they play a crucial role in protecting the lungs and heart, allowing room for expansion and contraction during breathing. Ribs also provide attachment points for various muscles involved in respiration and posture.

The facial bones, also known as the facial skeleton, are a series of bones that make up the framework of the face. They include:

1. Frontal bone: This bone forms the forehead and the upper part of the eye sockets.
2. Nasal bones: These two thin bones form the bridge of the nose.
3. Maxilla bones: These are the largest bones in the facial skeleton, forming the upper jaw, the bottom of the eye sockets, and the sides of the nose. They also contain the upper teeth.
4. Zygomatic bones (cheekbones): These bones form the cheekbones and the outer part of the eye sockets.
5. Palatine bones: These bones form the back part of the roof of the mouth, the side walls of the nasal cavity, and contribute to the formation of the eye socket.
6. Inferior nasal conchae: These are thin, curved bones that form the lateral walls of the nasal cavity and help to filter and humidify air as it passes through the nose.
7. Lacrimal bones: These are the smallest bones in the skull, located at the inner corner of the eye socket, and help to form the tear duct.
8. Mandible (lower jaw): This is the only bone in the facial skeleton that can move. It holds the lower teeth and forms the chin.

These bones work together to protect vital structures such as the eyes, brain, and nasal passages, while also providing attachment points for muscles that control chewing, expression, and other facial movements.

Hypertrichosis is a medical term that refers to an abnormal growth or overabundance of hair in areas where hair is not typically found or excessively thick. It can affect both men and women, and it can be present at birth (congenital) or develop later in life (acquired). The cause of congenital hypertrichosis is usually genetic, while acquired hypertrichosis can be caused by various factors such as medications, hormonal imbalances, metabolic disorders, or cancer.

Hypertrichosis should not be confused with hirsutism, which is a condition that causes excessive hair growth in women in areas where hair is typically found in men, such as the face, chest, and back. Hirsutism is usually caused by hormonal imbalances, while hypertrichosis can occur anywhere on the body.

Hypertrichosis can be localized, affecting only specific areas of the body, or generalized, affecting large portions of the body. Treatment for hypertrichosis depends on the underlying cause and may include medications to slow hair growth, laser therapy, or hair removal methods such as waxing, shaving, or plucking.

... is a rare genetic disorder characterized by craniofacial dysostosis, ... "Craniofacial Dysostosis with Diaphyseal Hyperplasia". DoveMed. Retrieved 2022-08-09. "Craniofacial Dysostosis With Diaphyseal ... "Craniofacial dysostosis with diaphyseal hyperplasia". "Orphanet: Dysostosis, Stanescu type". www.orpha.net. Retrieved 2022-08- ... "Entry - 122900 - Craniofacial Dysostosis With Diaphyseal Hyperplasia". omim.org. Retrieved 2022-08-09. Horovitz, D. D.; Barbosa ...
Kaplan, P.; Plauchu, H.; Fitch, N.; Jéquier, S. (1988-01-01). "A new acro-cranio-facial dysostosis syndrome in sisters". ... Acrocraniofacial dysostosis, also known as Kaplan Plauchu Fitch syndrome is a very rare hereditary disorder which is ... "Orphanet: Acrocraniofacial dysostosis". www.orpha.net. Archived from the original on 2020-09-28. Retrieved 2022-06-07. "OMIM ... characterized by cranio-facial dysmorphisms, hearing loss, digital clubbing, and osseous anomalies. Only 2 cases have been ...
Examples include craniofacial dysostosis, Klippel-Feil syndrome, and Rubinstein-Taybi syndrome. It is one of the two categories ... "dysostosis" at Dorland's Medical Dictionary[dead link] Offiah AC, Hall CM (March 2003). "Radiological diagnosis of the ... A dysostosis is a disorder of the development of bone, in particular affecting ossification. ...
"A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10". Nature Genetics. 7 (2): 149-153. doi:10.1038 ... Most notably he led the research that identified the genetic bases for several craniofacial abnormalities and hereditary ...
"A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and ...
... craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome)". Orr-Urtreger A, Bedford MT, Burakova ... FGFR2IIIc is found in mesenchyme, which includes craniofacial bone and for this reason the mutations of this gene and isoform ...
Crouzon was the first to describe a condition he called "craniofacial dysostosis", defined as a genetic branchial arch disorder ...
... craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11". American Journal of ... Alx4 belongs to the group-1 aristaless-related genes, a majority of which are linked to the development of the craniofacial and ... This gene has been proven to be allelic with mutations and deletions giving rise to a host of craniofacial dismorphologies and ... "ALX4 dysfunction disrupts craniofacial and epidermal development". Human Molecular Genetics. 18 (22): 4357-66. doi:10.1093/hmg/ ...
... craniofacial dysostosis MeSH C05.116.099.370.231.427 - Hallermann's syndrome MeSH C05.116.099.370.231.480 - hypertelorism MeSH ... craniofacial dysostosis MeSH C05.660.207.231.427 - Hallermann's syndrome MeSH C05.660.207.231.480 - hypertelorism MeSH C05.660. ... 207.231.576 - mandibulofacial dysostosis MeSH C05.660.207.231.576.410 - Goldenhar syndrome MeSH C05.660.207.240 - ... C05.116.099.370.231.576 - mandibulofacial dysostosis MeSH C05.116.099.370.231.576.410 - goldenhar syndrome MeSH C05.116.099.370 ...
... craniofacial dysostosis or crouzon syndrome Marshall halls facies - hydrocephalus Frog face - intranasal disease Coarse facies ... Lion-like facies - involvement of craniofacial bones in Paget disease of Bone Chipmunk facies - beta thalassemia Treacher ... this causes craniofacial protrusions. Mowat-Wilson syndrome Snijders Blok-Campeau syndrome Body habitus "Definition of FACIES ...
... craniofacial dysostosis 1, Crouzon syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome) FRA10AC1: Fragile site, folic acid type ...
... dysplasia First and second branchial arch syndrome Oral-mandibular-auricular syndrome Otomandibular dysostosis Craniofacial ... GeneReviews/NCBI/NIH/UW entry on Craniofacial Microsomia Overview (Articles with short description, Short description is ... "Hemifacial Microsomia , Cosmetic Surgery in India , Balaji Dental". Balaji Dental and Craniofacial Hospital, Chennai, India. 17 ... "Hemifacial Microsomia" at the Tennessee Craniofacial Center. Accessed 20 January 2008. ^ "Hemifacial Microsomia" at the ...
... craniofacial dysostosis MeSH C16.131.621.207.231.427 - Hallermann's syndrome MeSH C16.131.621.207.231.480 - hypertelorism MeSH ... craniofacial abnormalities MeSH C16.131.621.207.207 - cleidocranial dysplasia MeSH C16.131.621.207.231 - ... C16.131.621.207.231.576 - mandibulofacial dysostosis MeSH C16.131.621.207.231.576.410 - goldenhar syndrome MeSH C16.131.621.207 ...
First called "craniofacial dysostosis" ("craniofacial" refers to the skull and face, and "dysostosis" refers to malformation of ... Rodriguez, Eduardo (2018). Plastic Surgery: Volume 3: Craniofacial, Head and Neck Surgery and Pediatric Plastic Surgery (4 ed ... Apert syndrome Treacher Collins syndrome Hearing loss with craniofacial syndromes synd/1383 at Who Named It? L. E. O. Crouzon. ... Hearing loss with craniofacial syndromes, Congenital disorders of musculoskeletal system, Cell surface receptor deficiencies, ...
... defects Craniofacial deafness hand syndrome Craniofacial dysostosis arthrogryposis progeroid appearance Craniofacial dysostosis ... syndrome mental retardation Cranioectodermal dysplasia Craniofacial and osseous defects mental retardation Craniofacial and ... Craniofacial dysynostosis Craniofaciocardioskeletal syndrome Craniofaciocervical osteoglyphic dysplasia Craniofrontonasal ...
Craniofacial surgery may be necessary to correct skull defects. Coxa vara is treated by corrective femoral osteotomies. If ... "Cleidocranial dysostosis". Mount Sinai Health System. Retrieved 30 January 2023. "Cleidocranial dysostosis". Radiopaedia.org. ... Cleidocranial dysostosis affects about one per million people. In 1987, a young girl named Jessica McClure fell down a narrow ... Cleidocranial dysostosis (CCD), also called cleidocranial dysplasia, is a birth defect that mostly affects the bones and teeth ...
"Otologic and audiologic features of Nager acrofacial dysostosis". International Journal of Pediatric Otorhinolaryngology. 69 (8 ... Cleft Palate-Craniofacial Journal Online for scholarly, peer-reviewed articles on topics related to clefting. (Hearing loss ... Hearing loss with craniofacial syndromes is a common occurrence. Many of these multianomaly disorders involve structural ... "The World Craniofacial Foundation: Dedicated to helping children and families who experience deformities of the head and/or ...
The differential diagnosis includes Treacher Collins syndrome, Nager acrofacial dysostosis (preaxial cranial dysostosis). Other ... is an extremely rare genetic condition that manifests as craniofacial, limb and eye deformities. It is caused by a mutation in ... Genée E (1969). "Une forme de dysostose mandibulo-faciale" [A form of mandibulo-facial dysostosis]. J. De Génét. Humaine (in ... Miller M, Fineman R, Smith DW (December 1979). "Postaxial acrofacial dysostosis syndrome". The Journal of Pediatrics. 95 (6): ...
Congenital craniofacial differences are conditions affecting the head and face that present at or shortly after birth such as ... aka mandibulofacial dysostosis). Traumatic facial injuries include orbital (eye socket) fracture, mandible (jaw) fracture, ... After development of formal maxillofacial training programs and later the birth of the field of craniofacial surgery, the scope ... In 2020, the ASMS launched the journal, FACE, in collaboration with the American Society of Craniofacial Surgeons. This SAGE ...
Heterozygous loss-of-function mutations in EFTUD2 cause Mandibulofacial Dysostosis with Microcephaly (MFDM; OMIM #610536), a ... multiple malformation syndrome comprising progressive microcephaly (present in all affected individuals), craniofacial skeletal ... "Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly". American ...
Other craniofacial dysmorphisms include malar hypoplasia, midface and cheekbone hypoplasia, micrognathia, and small abnormally- ... Mandibulofacial dysostosis "Mandibulofacial dysostosis with microcephaly". 16 June 2022. "Mandibulofacial dysostosis with ... "Orphanet: Mandibulofacial dysostosis microcephaly syndrome". www.orpha.net. Retrieved 2022-07-18. Guion-Almeida, Maria Leine; ... "Entry - #610536 - MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE; MFDGA - OMIM". www.omim.org. Retrieved 2022-07-18. " ...
Due to craniofacial development, it is recommended that families work closely with craniofacial specialists as soon as Nager is ... Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several or all of the following ... "OMIM Entry - # 154400 - ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1". omim.org. Retrieved 19 August 2017. Rapini, Ronald P.; ... Nager syndrome shares many characteristics with five other craniofacial syndromes: Miller, Treacher Collins, Pierre Robin, ...
... type I Acrodysostosis 1 with or without hormone resistance Acrofrontofacionasal dysostosis Acromelic frontonasal dysostosis ... type iit Congenital heart defects and ectodermal dysplasia Cornelia de Lange syndrome Craniofacial dysplasia-osteopenia ...
Acromelic frontonasal dysostosis is caused by a heterozygous mutation in the ZSWIM6 gene. It is thought that acromelic ... 2008). "Rare Craniofacial Clefts: A surgical Classification". J Craniofac Surg. 19 (1): 110-2. doi:10.1097/scs.0b013e31815ca1ba ... Hence, it is plausible that an error in the SSH pathway causes acromelic frontonasal dysostosis, because this syndrome not only ... It is known that maternal diabetes plays a role in developing malformations of craniofacial structures and in OAVS. Therefore, ...
"Craniofacial dyssynostosis (Concept Id: C1857511)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-06. "Craniofacial dysplasia - ... "Acrocraniofacial dysostosis (Concept Id: C1860145)". www.ncbi.nlm.nih.gov. Retrieved 2023-07-02. "Adducted thumb (Concept Id: ... "Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to a point mutation (Concept Id ... "Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1 (Concept Id: C5677021)". www.ncbi.nlm.nih ...
The term mandibulofacial dysostosis is used to describe the clinical features. In July 1977, a New York Times article ... These cells play an important role in the development of the craniofacial appearance, and loss of one copy of treacle affects ... Ultrasonography can be used to detect craniofacial abnormalities later in pregnancy, but may not detect milder cases. TCS is ... First arch syndrome Franceschetti-Klein syndrome Hearing loss with craniofacial syndromes Rapini, Ronald P.; Bolognia, Jean L ...
DeLone, D. R.; Brown, W. D.; Gentry, L. R. (November 1999). "Proteus syndrome: craniofacial and cerebral MRI". Neuroradiology. ... This type of condition usually happens as part of systemic diseases such as Hemifacial microsomia, Mandibulofacial Dysostosis, ... Condylar hyperplasia Craniofacial team Distraction osteogenesis Hemifacial microsomia Shivhare, Peeyush; Shankarnarayan, Lata; ... Journal of Craniofacial Surgery. 16 (3): 489-492. doi:10.1097/01.SCS.0000147655.94656.0D. ISSN 1049-2275. PMID 15915123. Canger ...
The mother's consumption of alcohol during pregnancy can cause a continuum of various permanent birth defects: craniofacial ... and cleidocranial dysostosis. Congenital heart defects include patent ductus arteriosus, atrial septal defect, ventricular ... Trimethadione taken during pregnancy is responsible for the fetal trimethadione syndrome, characterized by craniofacial, ...
Peripheral dysostosis? Pseudo-pseudo-hypoparathyroidism? Cone epiphyses?". Am J Roentgenol Radium Ther Nucl Med. 99 (3): 724-35 ... Syndromes with craniofacial abnormalities). ...
Long-term surgical outcome for craniofacial deformities of patients with craniofrontonasal dysplasia with proven EFNB1 ... Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked ... and is important for skeletal and craniofacial development. As the ephrin receptor and its EFNB1 ligand are both bound to the ( ...
Craniofacial dysostosis-diaphyseal hyperplasia syndrome is a rare genetic disorder characterized by craniofacial dysostosis, ... "Craniofacial Dysostosis with Diaphyseal Hyperplasia". DoveMed. Retrieved 2022-08-09. "Craniofacial Dysostosis With Diaphyseal ... "Craniofacial dysostosis with diaphyseal hyperplasia". "Orphanet: Dysostosis, Stanescu type". www.orpha.net. Retrieved 2022-08- ... "Entry - 122900 - Craniofacial Dysostosis With Diaphyseal Hyperplasia". omim.org. Retrieved 2022-08-09. Horovitz, D. D.; Barbosa ...
Children with this disorder should be examined by a specialized craniofacial surgery team at a childrens medical center. ... Crouzon disease (craniofacial dysostosis). *Pfeiffer syndrome. *Saethre-Chotzen syndrome Exams and Tests. ...
Early craniectomies for craniofacial dysostosis. Converse JM, McCarthy J, Wood-Smith D, eds. Symposium on diagnosis and ... Spring mediated dynamic craniofacial reshaping. Case report. Scand J Plast Reconstr Surg Hand Surg. 1998 Sep. 32(3):331-8. [ ... Tessier P. Craniofacial surgery in syndromic craniosynostosis. In: Cohen MM, ed. Craniosynostosis: Diagnosis, Evaluation, and ... Frank S Ciminello, MD Director of Craniofacial Surgery, University Hospital, New Jersey Medical School. Frank S Ciminello, MD ...
Growth of craniofacial structures derived from the first... ... Full craniofacial computed tomography (CT) scanning (axial and ... Mandibulofacial dysostosis, also known as Treacher Collins syndrome (TCS; entry 154500 in the Online Mendelian Inheritance in ... encoded search term (Mandibulofacial Dysostosis (Treacher Collins Syndrome)) and Mandibulofacial Dysostosis (Treacher Collins ... Mandibulofacial Dysostosis (Treacher Collins Syndrome). Updated: Jan 20, 2023 * Author: Marie M Tolarova, MD, PhD, DSc; Chief ...
Early craniectomies for craniofacial dysostosis. Converse JM, McCarthy J, Wood-Smith D, eds. Symposium on diagnosis and ... Spring mediated dynamic craniofacial reshaping. Case report. Scand J Plast Reconstr Surg Hand Surg. 1998 Sep. 32(3):331-8. [ ... Tessier P. Craniofacial surgery in syndromic craniosynostosis. In: Cohen MM, ed. Craniosynostosis: Diagnosis, Evaluation, and ... Frank S Ciminello, MD Director of Craniofacial Surgery, University Hospital, New Jersey Medical School. Frank S Ciminello, MD ...
Craniofacial dysostosis with diaphyseal hyperplasia From NCATS Genetic and Rare Diseases Information Center ...
3-q33.3). It is known as craniofacial dysostosis, and presents with malar hypoplasia, mandibular hypoplasia, and pinnae ... A técnica de intubação sem máscara laríngea ou fibroscópio em pacientes com síndrome craniofacial pode ocorrer sem ... The intubation technique without laryngeal mask airway device or fiberscope in patients with craniofacial syndrome may take ... 3-q33.3). Conhecida como disostose craniofacial, apresenta-se com hipoplasia malar, hipoplasia mandibular e malformações do ...
Craniofacial dysostosis type I (CFD1),. Apert syndrome,. Acrocephalosyndactyly type I (ACS I),. Pfeiffer syndrome (PS),. ...
Q75.1 Craniofacial dysostosis Q75.2 Hypertelorism Q75.3 Macrocephaly Q75.4 Mandibulofacial dysostosis Q75.5 Oculomandibular ... dysostosis Q75.8 Other specified congenital malformations of skull and face bones Q75.9 "Congenital malformation of skull and ...
Craniofacial Dysostosis [C05.116.099.370.231] Craniofacial Dysostosis * Focal Dermal Hypoplasia [C05.116.099.370.380] ...
Growth of craniofacial structures derived from the first... ... Franceschetti A, Klein D. Mandibulo-facial dysostosis: New ... Mandibulofacial dysostosis, also known as Treacher Collins syndrome (TCS; entry 154500 in the Online Mendelian Inheritance in ... encoded search term (Mandibulofacial Dysostosis (Treacher Collins Syndrome)) and Mandibulofacial Dysostosis (Treacher Collins ... Mandibulofacial Dysostosis (Treacher Collins Syndrome). Updated: Sep 02, 2014 * Author: Marie M Tolarova, MD, PhD, DSc; Chief ...
... the treatment algorithms for craniofacial dysostoses that had been based on traditional osteotomy techniques. In some cases, ... New trends in cranio-orbital and midface distraction for craniofacial dysostosis Richard A Hopper. Curr Opin Otolaryngol Head ... New trends in cranio-orbital and midface distraction for craniofacial dysostosis Richard A Hopper 1 ... A technical modification for the management of craniofacial dysostosis in early childhood. Adolphs N, Klein M, Haberl EJ, ...
Craniofacial dysostosis. *Craniofacial dysostosis syndrome. *Craniofacial dysostosis type 1. *Crouzon craniofacial dysostosis ...
Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia ... Congenital Craniofacial Dysostosis. Coronal Craniosynostosis. Synonym: Coronal Suture Craniosynostosis. Synonym: Coronal Suture ... GCM syndromeCraniofacial dysostosis-genital, dental, cardiac anomalies syndrome; Cranofacial dysostosis-hypertrichosis- ... Congenital craniofacial dysostosis Coronal craniosynostosis Generalized hirsutism Hypertelorism Low anterior hairline Nystagmus ...
Robot-assisted frontofacial correction in very young children with craniofacial dysostosis syndromes: a technical note and ...
"Q75.1 Craniofacial dysostosis" "Q752" = "Q75.2 Hypertelorism" "Q753" = "Q75.3 Macrocephaly" "Q754" = "Q75.4 Mandibulofacial ... dysostosis" "Q755" = "Q75.5 Oculomandibular dysostosis" "Q758" = "Q75.8 Other specified congenital malformations of skull and ...
New trends in cranio-orbital and midface distraction for craniofacial dysostosis. Curr Opin Otolaryngol Head Neck Surg. 2012;20 ... Swallowing is formally assessed after craniofacial surgeries.. Dental Pediatric dental care & eval by craniofacial orthodontist ... Eval by craniofacial orthodontist. When secondary teeth erupt. Vision issues Ophthalmologic exam of optic nerves; eval for ... Additional Craniofacial/. Airway Features. Hands/Feet. Neurologic. Other. Apert syndrome Multisuture craniosynostosis, ...
Craniofacial Dysostosis Syndrome Craniofacial Dysostosis Type 1 Craniofacial Dysostosis, Type I Crouzon Craniofacial Dysostosis ... Craniofacial Dysostosis, Type I Term UI T811308. Date11/15/2011. LexicalTag NON. ThesaurusID OMIM (2013). ... Craniofacial Dysostosis Preferred Term Term UI T009880. Date01/01/1999. LexicalTag NON. ThesaurusID ... Craniofacial Dysostosis Type 1 Term UI T782668. Date12/22/2010. LexicalTag NON. ThesaurusID ...
Craniofacial Dysostosis Syndrome Craniofacial Dysostosis Type 1 Craniofacial Dysostosis, Type I Crouzon Craniofacial Dysostosis ... Craniofacial Dysostosis, Type I Term UI T811308. Date11/15/2011. LexicalTag NON. ThesaurusID OMIM (2013). ... Craniofacial Dysostosis Preferred Term Term UI T009880. Date01/01/1999. LexicalTag NON. ThesaurusID ... Craniofacial Dysostosis Type 1 Term UI T782668. Date12/22/2010. LexicalTag NON. ThesaurusID ...
Craniofacial Dysostosis MeSH DeCS ID:. 50734 Unique ID:. D051497 Documents indexed in the Virtual Health Library (VHL):. Click ...
C27574 C99147 Neonatal Research Network Terminology C C84653 Craniofacial Dysostosis Crouzon Syndrome A syndrome inherited in ...
Crouzon craniofacial dysostosis Active Synonym false false 48325018 Crouzon syndrome Active Synonym false false ...
Craniofacial Dysostosis (Crouzons Disease). *Downs Syndrome (Trisomy 21 Syndrome)*Oral Manifestations. *Ectodermal Dysplasia ...
Tessier P. The definitive plastic surgical treatment of the severe facial deformities of craniofacial dysostosis. Crouzons and ... It was a result of continuing the advances in craniofacial resection techniques with the osteotomies used for the repair of ... Delfini R, Iannetti G, Belli E, Santoro A, Ciappetta P, Cantore G. Cranio-facial approaches for tumours involving the anterior ... Anterior and anterolateral craniofacial resection. Surgery of Cranial Base Tumors. Lippincott Williams & Wilkins; 1993. 147-156 ...
Craniofacial Dysostosis, Type 1; CFD1 See Craniofacial Dysostosis Craniofacial Dysostosis, Type I See Craniofacial Dysostosis ...
CS is characterized by craniofacial dysostosis, exophthalmos, and facial anomalies with hypoplastic maxilla and relative ... BACKGROUND: Crouzon syndrome (CS; OMIM 123500) is an autosomal dominant inherited craniofacial disorder caused by mutations in ...
DYSOSTOSIS, CLEIDOCRANIAL see CLEIDOCRANIAL DYSOSTOSIS DYSOSTOSIS, CRANIOFACIAL see HYPERTELORISM DYSPEPSIA see ... x DYSOSTOSIS, CRANIOFACIAL xx CRANIUM, abnormalities HYPERTENSIN see ANGIOTONIN HYPERTENSINASE see PROTEASES HYPERTENSION see ... CLEIDOCRANIAL DYSOSTOSIS x DYSOSTOSIS, CLEIDOCRANIAL CLIMACTERIC CLIMACTERIC, FEMALE x MENOPAUSE 56 CURRENT LIST of MEDICAL ...
Craniofacial T009879Dysostosis, Craniofacial T009880Craniofacial Dysostosis T009881Crouzon Disease T009881Disease, Crouzon ... Cleft T008589Cleidocranial Dysostoses T008589Cleidocranial Dysostosis T008589Dysostoses, Cleidocranial T008590Dysostosis, ...
Growth of craniofacial structures derived from the first... ... Full craniofacial computed tomography (CT) scanning (axial and ... Mandibulofacial dysostosis, also known as Treacher Collins syndrome (TCS; entry 154500 in the Online Mendelian Inheritance in ... encoded search term (Mandibulofacial Dysostosis (Treacher Collins Syndrome)) and Mandibulofacial Dysostosis (Treacher Collins ... Mandibulofacial Dysostosis (Treacher Collins Syndrome). Updated: Jan 20, 2023 * Author: Marie M Tolarova, MD, PhD, DSc; Chief ...
Craniofacial Abnormalities Craniofacial Dysostosis Craniology Craniomandibular Disorders Craniopharyngioma Craniospinal ...
Among the more than 700 distinct craniofacial syndromes, TCS is quite rare. It is characterized by a small jaw, cleft lip or ... In an embryo with TCS, or mandibulofacial dysostosis, facial structures do not develop normally. (Image used by permission of ... "There is a very fine line between normal and abnormal craniofacial development," he said. "If you can understand the genetic, ... And his team has applied this knowledge to discover the cause and potential treatments for human congenital craniofacial ...
Among the more than 700 distinct craniofacial syndromes, TCS is quite rare. It is characterized by a small jaw, cleft lip or ... In an embryo with TCS, or mandibulofacial dysostosis, facial structures do not develop normally. (Image used by permission of ... "There is a very fine line between normal and abnormal craniofacial development," he said. "If you can understand the genetic, ... And his team has applied this knowledge to discover the cause and potential treatments for human congenital craniofacial ...
craniofacial phenotype. 1 Select filter option. digestive/alimentary phenotype. 1 Select filter option. embryo phenotype. 1 ... mandibulofacial dysostosis with alopecia. 1 Select filter option. pancreatic intraductal papillary-mucinous carcinoma. 1 Select ... Craniofacial Abnormalities. 1 Select filter option. intellectual disability. 1 Select filter option. maturity-onset diabetes of ...
DAlessandro G, Tagariello T, Piana G. Cleidocranial dysplasia: etiology and stomatognathic and craniofacial abnormalities. ... Genetic Testing Registry: Cleidocranial dysostosis Genetic and Rare Diseases Information Center. *Cleidocranial dysplasia ...
  • Craniofacial dysostosis-diaphyseal hyperplasia syndrome is a rare genetic disorder characterized by craniofacial dysostosis, small cranium with accompanying thin skullbone, generalized depressions on the frontoparietal and occipitoparietal sutures, underdevelopment of the chin, exophthalmos, long bone cortical sclerosis (bending and shortening), and puberty-onset progressive bone cortex thickening. (wikipedia.org)
  • Poswillo D. The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). (medscape.com)
  • Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. (medscape.com)
  • [ 2 ] On the European continent, a more common name for this condition is Franceschetti-Zwahlen-Klein syndrome, based on extensive studies of mandibulofacial dysostosis published by the Swiss ophthalmologist Franceschetti and the geneticist Klein (1949). (medscape.com)
  • Mandibulofacial dysostosis: A familial study of five generations. (medscape.com)
  • C27574 C99147 Neonatal Research Network Terminology C C84653 Craniofacial Dysostosis Crouzon Syndrome A syndrome inherited in an autosomal dominant pattern. (nih.gov)
  • Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies. (nih.gov)
  • [ 2 ] On the European continent, a more common name for this condition is Franceschetti-Zwahlen-Klein syndrome, based on extensive studies of mandibulofacial dysostosis published by the Swiss ophthalmologist Franceschetti and the geneticist Klein (1949). (medscape.com)
  • Robot-assisted frontofacial correction in very young children with craniofacial dysostosis syndromes: a technical note and early functional outcome. (medscape.com)
  • Syndromic craniofacial dysostosis remains one of the most challenging diagnoses in congenital craniomaxillofacial surgery. (nih.gov)
  • It was a result of continuing the advances in craniofacial resection techniques with the osteotomies used for the repair of congenital craniofacial anomalies. (medscape.com)
  • Distraction osteogenesis has challenged, and in many centers modified, the treatment algorithms for craniofacial dysostoses that had been based on traditional osteotomy techniques. (nih.gov)