Synostosis
Craniosynostoses
Frontal Bone
Fibula
Syndactyly
Radius
Foot Deformities, Congenital
Zygoma
Animals, Inbred Strains
Hand Deformities, Congenital
Maxillofacial Abnormalities
Parietal Bone
Abnormalities, Multiple
Craniofacial Abnormalities
Twist Transcription Factor
Unusual proximal tibiofibular synostosis. (1/45)
Proximal tibiofibular synostosis without multiple hereditary exostosis is extremely rare and only 7 cases have been reported in the literature. All of the previously reported cases accompanied deformities such as distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee. The present case of a 24-year-old man had neither a history of trauma nor deformity around the knee. Therefore, it was suggested that this type of synostosis occurred after epiphyseal plate closure. (+info)Talocalcaneal coalition. Diagnosis with the C-sign on lateral radiographs of the ankle. (2/45)
We analysed 42 weight-bearing lateral radiographs of the ankle, 20 of which were from patients with a clinical and plain radiological diagnosis of talocalcaneal coalition (TCC) who subsequently had CT. The remainder were from 22 healthy volunteers with no clinical findings suggestive of hindfoot pathology. Four observers, blinded to the CT findings, independently evaluated the radiographs on two separate occasions. With the 95% confidence interval and using the CT findings as the comparison we calculated the sensitivity, specificity, accuracy, and positive and negative predictive values for the C-sign, and for other signs known to be associated with TCC. Similarly, we also calculated the interobserver and intraobserver reliability for these signs using the kappa statistic. Our results suggest that the C-sign is highly sensitive and specific for TCC. It is an accurate indicator and significantly more reliable than other previously recognised radiological signs of TCC. Features of the C-sign, however, cannot be relied upon to indicate whether the TCC is fibrous or bony. (+info)Physical map of a 1.5 mb region on 12p11.2 harbouring a synpolydactyly associated chromosomal breakpoint. (3/45)
Synpolydactyly (SPD) is a rare malformation of the distal limbs known to be caused by mutations in HOXD13. We have previously described a complex form of SPD associated with synostoses in three members of a Belgian family, which co-segregates with a t(12;22)(p11.2;q13.3) chromosomal translocation. The chromosome 12 breakpoint of this translocation maps to 12p11.2 between markers D12S1034 and D12S1596. Here we show that a mutation in the HOXD13 gene is not responsible for the phenotype, and present a physical map of the region around the 12p11.2 breakpoint. Starting from D12S1034 and D12S1596, we have established a contig approximately 1.5 Mb in length, containing 13 YAC clones, 16 BAC clones, and 11 cosmid clones. FISH analysis shows that cosmid LL12NCO1-149H4 maps across the breakpoint, and Southern blot experiments using fragments of this cosmid as probes identify a rearranged BamHI fragment in the patients carrying the translocation. A search for expressed sequences within the contig have so far revealed one CpG island, seven anonymous ESTs and three previously characterised genes, DAD-R, KRAG and HT21, all of which were found not to be directly disrupted by the translocation. The gene represented by EST R72964 was found to be disrupted by the translocation. These findings lay the groundwork for further efforts to characterise a gene critical for normal distal limb development that is perturbed by this translocation. (+info)New surgical concepts resulting from cranio-orbito-facial surgery. (4/45)
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)Trigonocephaly in rabbits with familial interfrontal suture synostosis: the multiple effects of premature single-suture fusion. (5/45)
Previous studies from our laboratory have characterized the craniofacial morphology and growth patterns of an inbred strain of rabbits with autosomal dominant coronal suture synostosis. A number of rabbit perinates from this colony have been collected sporadically over a 5-year period with premature interfrontal suture synostosis. The present study describes the very early onset of craniofacial dysmorphology of these rabbits and compares them to similar-aged normal control rabbits. A total of 40 perinatal New Zealand White rabbits were used in the present study. Twenty-one comprised the sample with interfrontal suture synostosis and ranged in age from 27 to 38 days postconception (term = 31 days) with a mean age of 33.53 days (+/-2.84 days). Nineteen rabbits served as age-matched, normal controls (mean age = 33.05 days +/-2.79 days). Lateral and dorsoventral radiographs were collected from each rabbit. The radiographs were traced, computer digitized, and 12 craniofacial measurements, angles, and indices were obtained. Mean measures were compared using an unpaired Student's t-test. All synostosed rabbits were stillborn or died shortly after birth. Grossly, these rabbits exhibited extreme frontal bossing, trigonocephaly with sagittal keeling, and midfacial shortening. No somatic anomalies were noted. Radiographically, rabbits with interfrontal suture synostosis had significantly (P < 0.05) narrower bifrontal widths, shorter cranial vault lengths, kyphotic cranial base angles, and different cranial vault indices (shapes) compared to controls. Results reveal severe and early pathological and compensatory cranial vault changes associated with premature interfrontal suture synostosis in this rabbit model. The 100% mortality rate noted in this condition may be related to the inheritance of a lethal genetic mutation or to neural compression from reduced intracranial volume. Results are discussed in light of current pathogenic hypotheses for human infants with premature metopic suture synostosis. (+info)Derivation of the mammalian skull vault. (6/45)
This review describes the evolutionary history of the mammalian skull vault as a basis for understanding its complex structure. Current information on the developmental tissue origins of the skull vault bones (mesoderm and neural crest) is assessed for mammals and other tetrapods. This information is discussed in the context of evolutionary changes in the proportions of the skull vault bones at the sarcopterygian-tetrapod transition. The dual tissue origin of the skull vault is considered in relation to the molecular mechanisms underlying osteogenic cell proliferation and differentiation in the sutural growth centres and in the proportionate contributions of different sutures to skull growth. (+info)Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding. (7/45)
Secreted noggin protein regulates bone morphogenetic protein activity during development. In mice, a complete loss of noggin protein leads to multiple malformations including joint fusion, whereas mice heterozygous for Nog loss-of-function mutations are normal. In humans, heterozygous NOG missense mutations have been found in patients with two autosomal dominant disorders of joint development, multiple synostosis syndrome (SYNS1) and a milder disorder proximal symphalangism (SYM1). This study investigated the effect of one SYNS1 and two SYM1 disease-causing missense mutations on the structure and function of noggin. The SYNS1 mutation abolished, and the SYM1 mutations reduced, the secretion of functional noggin dimers in transiently transfected COS-7 cells. Coexpression of mutant noggin with wild-type noggin, to resemble the heterozygous state, did not interfere with wild-type noggin secretion. These data indicate that the human disease-causing mutations are hypomorphic alleles that reduce secretion of functional dimeric noggin. Therefore, we conclude that noggin has both species-specific and joint-specific dosage-dependent roles during joint formation. Surprisingly, in contrast to the COS-7 cell studies, the SYNS1 mutant was able to form dimers in Xenopus laevis oocytes. This finding indicates that there also exist species-specific differences in the ability to process mutant noggin polypeptides. (+info)The Antley-Bixler syndrome: two new cases. (8/45)
The Antley-Bixler syndrome is a rare multiple congenital anomaly with a high mortality rate. The characteristic manifestations include craniosynostosis, radiohumeral synostosis, midface hypoplasia, joint contractures and arachnodactyly. We report two new cases of this syndrome and address the diagnostic features, associated malformations, inheritance patterns, prenatal findings, and briefly review the literature. (+info)Synostosis is a medical term that refers to the abnormal or physiological fusion of adjacent bones. It's derived from two Greek words, "syn" meaning together and "osteon" meaning bone. In a normal physiological process, synostosis occurs during growth and development, where the growth of certain bones is stopped by the fusion of neighboring bones at specific sites known as sutures or fontanelles.
However, abnormal synostosis can occur due to various reasons such as injuries, infections, or genetic conditions. This can lead to restricted movement and growth disturbances in the affected area. Common examples include craniosynostosis, where the skull bones fuse prematurely, and syndactyly, where fingers or toes are fused together. Treatment for abnormal synostosis may involve surgery to correct the fusion and prevent further complications.
Craniosynostosis is a medical condition that affects the skull of a developing fetus or infant. It is characterized by the premature closure of one or more of the fibrous sutures between the bones of the skull (cranial sutures). These sutures typically remain open during infancy to allow for the growth and development of the brain.
When a suture closes too early, it can restrict the growth of the surrounding bones and cause an abnormal shape of the head. The severity of craniosynostosis can vary depending on the number of sutures involved and the extent of the premature closure. In some cases, craniosynostosis can also lead to increased pressure on the brain, which can cause a range of neurological symptoms.
There are several types of craniosynostoses, including:
1. Sagittal synostosis: This is the most common type and involves the premature closure of the sagittal suture, which runs from front to back along the top of the head. This can cause the skull to grow long and narrow, a condition known as scaphocephaly.
2. Coronal synostosis: This type involves the premature closure of one or both of the coronal sutures, which run from the temples to the front of the head. When one suture is affected, it can cause the forehead to bulge and the eye socket on that side to sink in (anterior plagiocephaly). When both sutures are affected, it can cause a flattened appearance of the forehead and a prominent back of the head (brachycephaly).
3. Metopic synostosis: This type involves the premature closure of the metopic suture, which runs from the top of the forehead to the bridge of the nose. It can cause a triangular shape of the forehead and a prominent ridge along the midline of the skull (trigonocephaly).
4. Lambdoid synostosis: This is the least common type and involves the premature closure of the lambdoid suture, which runs along the back of the head. It can cause an asymmetrical appearance of the head and face, as well as possible neurological symptoms.
In some cases, multiple sutures may be affected, leading to more complex craniofacial abnormalities. Treatment for craniosynostosis typically involves surgery to release the fused suture(s) and reshape the skull. The timing of the surgery depends on the type and severity of the condition but is usually performed within the first year of life. Early intervention can help prevent further complications, such as increased intracranial pressure and developmental delays.
Cranial sutures are the fibrous joints that connect and hold together the bones of the skull (cranium) in humans and other animals. These sutures provide flexibility for the skull during childbirth and growth, allowing the skull to expand as the brain grows in size, especially during infancy and early childhood.
There are several cranial sutures in the human skull, including:
1. The sagittal suture, which runs along the midline of the skull, connecting the two parietal bones.
2. The coronal suture, which connects the frontal bone to the two parietal bones.
3. The lambdoid suture, which connects the occipital bone to the two parietal bones.
4. The squamosal suture, which connects the temporal bone to the parietal bone.
5. The frontosphenoidal and sphenoethmoidal sutures, which connect the frontal bone, sphenoid bone, and ethmoid bone in the anterior cranial fossa.
These sutures are typically made up of a specialized type of connective tissue called Sharpey's fibers, which interdigitate with each other to form a strong yet flexible joint. Over time, as the skull bones fully fuse together, these sutures become less prominent and eventually ossify (turn into bone). In some cases, abnormalities in cranial suture development or fusion can lead to medical conditions such as craniosynostosis.
The frontal bone is the bone that forms the forehead and the upper part of the eye sockets (orbits) in the skull. It is a single, flat bone that has a prominent ridge in the middle called the superior sagittal sinus, which contains venous blood. The frontal bone articulates with several other bones, including the parietal bones at the sides and back, the nasal bones in the center of the face, and the zygomatic (cheek) bones at the lower sides of the orbits.
Acrocephalosyndactyly is a genetic disorder that affects the development of the skull and limbs. The term comes from the Greek words "acros," meaning extremity, "cephale," meaning head, and "syndactylia," meaning webbed or fused fingers or toes.
There are several types of acrocephalosyndactyly, but the most common is Type 1, also known as Apert syndrome. People with Apert syndrome have a characteristic appearance, including a high, prominent forehead (acrocephaly), widely spaced eyes (hypertelorism), and underdeveloped upper jaw and midface (maxillary hypoplasia). They also have webbed or fused fingers and toes (syndactyly) and may have other skeletal abnormalities.
Acrocephalosyndactyly is caused by a mutation in the FGFR2 gene, which provides instructions for making a protein that is involved in the development of bones and tissues. The mutation leads to overactive signaling of the FGFR2 protein, which can cause abnormal bone growth and fusion.
Treatment for acrocephalosyndactyly typically involves a team of specialists, including geneticists, orthopedic surgeons, craniofacial surgeons, and other healthcare professionals. Surgery may be necessary to correct skeletal abnormalities, improve function, and enhance appearance. Speech therapy, occupational therapy, and other supportive care may also be recommended.
The ulna is one of the two long bones in the forearm, the other being the radius. It runs from the elbow to the wrist and is located on the medial side of the forearm, next to the bone called the humerus in the upper arm. The ulna plays a crucial role in the movement of the forearm and also serves as an attachment site for various muscles.
The fibula is a slender bone located in the lower leg of humans and other vertebrates. It runs parallel to the larger and more robust tibia, and together they are known as the bones of the leg or the anterior tibial segment. The fibula is the lateral bone in the leg, positioned on the outside of the tibia.
In humans, the fibula extends from the knee joint proximally to the ankle joint distally. Its proximal end, called the head of the fibula, articulates with the lateral condyle of the tibia and forms part of the inferior aspect of the knee joint. The narrowed portion below the head is known as the neck of the fibula.
The shaft of the fibula, also called the body of the fibula, is a long, thin structure that descends from the neck and serves primarily for muscle attachment rather than weight-bearing functions. The distal end of the fibula widens to form the lateral malleolus, which is an important bony landmark in the ankle region. The lateral malleolus articulates with the talus bone of the foot and forms part of the ankle joint.
The primary functions of the fibula include providing attachment sites for muscles that act on the lower leg, ankle, and foot, as well as contributing to the stability of the ankle joint through its articulation with the talus bone. Fractures of the fibula can occur due to various injuries, such as twisting or rotational forces applied to the ankle or direct trauma to the lateral aspect of the lower leg.
Syndactyly is a congenital condition where two or more digits (fingers or toes) are fused together. It can occur in either the hand or foot, and it can involve fingers or toes on both sides of the hand or foot. The fusion can be partial, where only the skin is connected, or complete, where the bones are also connected. Syndactyly is usually noticed at birth and can be associated with other genetic conditions or syndromes. Surgical intervention may be required to separate the digits and improve function and appearance.
An ulna fracture is a break in the ulna bone, which is one of the two long bones in the forearm. The ulna is located on the pinky finger side of the forearm and functions to support the elbow joint and assist in rotation and movement of the forearm. Ulna fractures can occur at various points along the bone, including the shaft, near the wrist, or at the elbow end of the bone. Symptoms may include pain, swelling, bruising, tenderness, deformity, limited mobility, and in some cases, numbness or tingling in the fingers. Treatment typically involves immobilization with a cast or splint, followed by rehabilitation exercises to restore strength and range of motion. In severe cases, surgery may be required to realign and stabilize the fractured bone.
The skull is the bony structure that encloses and protects the brain, the eyes, and the ears. It is composed of two main parts: the cranium, which contains the brain, and the facial bones. The cranium is made up of several fused flat bones, while the facial bones include the upper jaw (maxilla), lower jaw (mandible), cheekbones, nose bones, and eye sockets (orbits).
The skull also provides attachment points for various muscles that control chewing, moving the head, and facial expressions. Additionally, it contains openings for blood vessels, nerves, and the spinal cord to pass through. The skull's primary function is to protect the delicate and vital structures within it from injury and trauma.
The radius is one of the two bones in the forearm in humans and other vertebrates. In humans, it runs from the lateral side of the elbow to the thumb side of the wrist. It is responsible for rotation of the forearm and articulates with the humerus at the elbow and the carpals at the wrist. Any medical condition or injury that affects the radius can impact the movement and function of the forearm and hand.
Congenital foot deformities refer to abnormal structural changes in the foot that are present at birth. These deformities can vary from mild to severe and may affect the shape, position, or function of one or both feet. Common examples include clubfoot (talipes equinovarus), congenital vertical talus, and cavus foot. Congenital foot deformities can be caused by genetic factors, environmental influences during fetal development, or a combination of both. Treatment options may include stretching, casting, surgery, or a combination of these approaches, depending on the severity and type of the deformity.
The zygoma is the scientific name for the cheekbone. It is a part of the facial skeleton that forms the prominence of the cheek and houses the maxillary sinus, one of the pairs of paranasal sinuses. The zygomatic bone, also known as the malar bone, contributes to the formation of the zygoma.
Inbreeding in animals refers to the mating of closely related individuals, such as siblings or offspring of siblings, over multiple generations. An inbred strain is a population of animals produced by this repeated mating of close relatives, which results in a high degree of genetic similarity among members of the strain.
Inbreeding can lead to an increase in homozygosity, where identical alleles are present at corresponding loci on both chromosomes. This can result in the expression of recessive traits, some of which may be deleterious or even lethal. However, inbred strains also have advantages, such as reduced genetic variability, which makes them useful for scientific research.
Inbred strains are commonly used in biomedical research, including genetics, immunology, and behavioral studies. They provide a consistent and controlled genetic background, allowing researchers to study the effects of specific genes or environmental factors with greater precision. Additionally, inbred strains can be crossed with other strains to create hybrid populations, which can be used to map quantitative trait loci (QTL) and identify genes associated with complex traits.
Congenital hand deformities refer to physical abnormalities or malformations of the hand, wrist, and/or digits (fingers) that are present at birth. These deformities can result from genetic factors, environmental influences during pregnancy, or a combination of both. They may affect the bones, muscles, tendons, joints, and other structures in the hand, leading to varying degrees of impairment in function and appearance.
There are numerous types of congenital hand deformities, some of which include:
1. Polydactyly: The presence of extra digits on the hand, which can be fully formed or rudimentary.
2. Syndactyly: Webbing or fusion of two or more fingers, which may involve soft tissue only or bone as well.
3. Clinodactyly: A curved finger due to a sideways deviation of the fingertip, often affecting the little finger.
4. Camptodactyly: Permanent flexion or bending of one or more fingers, typically involving the proximal interphalangeal joint.
5. Trigger Finger/Thumb: A condition where a finger or thumb becomes locked in a bent position due to thickening and narrowing of the tendon sheath.
6. Radial Club Hand (Radial Ray Deficiency): Underdevelopment or absence of the radius bone, resulting in a short, curved forearm and hand deformity.
7. Ulnar Club Hand (Ulnar Ray Deficiency): Underdevelopment or absence of the ulna bone, leading to a short, curved forearm and hand deformity.
8. Cleidocranial Dysplasia: A genetic disorder affecting bone growth, resulting in underdeveloped or absent collarbones, dental abnormalities, and occasionally hand deformities.
9. Apert Syndrome: A rare genetic disorder characterized by the fusion of fingers and toes (syndactyly) and other skeletal abnormalities.
10. Holt-Oram Syndrome: A genetic disorder involving heart defects and upper limb deformities, such as radial ray deficiency or thumb anomalies.
Treatment for hand deformities varies depending on the specific condition and severity. Options may include physical therapy, bracing, splinting, medications, or surgical intervention.
Maxillofacial abnormalities, also known as craniofacial anomalies, refer to a broad range of structural and functional disorders that affect the development of the skull, face, jaws, and related soft tissues. These abnormalities can result from genetic factors, environmental influences, or a combination of both. They can vary in severity, from minor cosmetic issues to significant impairments of vital functions such as breathing, speaking, and eating.
Examples of maxillofacial abnormalities include cleft lip and palate, craniosynostosis (premature fusion of the skull bones), hemifacial microsomia (underdevelopment of one side of the face), and various other congenital anomalies. These conditions may require multidisciplinary treatment involving surgeons, orthodontists, speech therapists, and other healthcare professionals to address both functional and aesthetic concerns.
In medical terms, toes are the digits located at the end of the foot. Humans typically have five toes on each foot, consisting of the big toe (hallux), second toe, third toe, fourth toe, and little toe (fifth toe). The bones of the toes are called phalanges, with the exception of the big toe, which has a different bone structure and is composed of a proximal phalanx, distal phalanx, and sometimes a sesamoid bone.
Toes play an essential role in maintaining balance and assisting in locomotion by helping to push off the ground during walking or running. They also contribute to the overall stability and posture of the body. Various medical conditions can affect toes, such as ingrown toenails, bunions, hammertoes, and neuromas, which may require specific treatments or interventions to alleviate pain, restore function, or improve appearance.
The parietal bone is one of the four flat bones that form the skull's cranial vault, which protects the brain. There are two parietal bones in the skull, one on each side, located posterior to the frontal bone and temporal bone, and anterior to the occipital bone. Each parietal bone has a squamous part, which forms the roof and sides of the skull, and a smaller, wing-like portion called the mastoid process. The parietal bones contribute to the formation of the coronal and lambdoid sutures, which are fibrous joints that connect the bones in the skull.
'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.
Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.
Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.
The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.
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.
A Twist Transcription Factor is a family of proteins that regulate gene expression through the process of transcription. The name "Twist" comes from the Drosophila melanogaster (fruit fly) gene, which was first identified due to its role in causing twisted or spiral patterns during embryonic development.
The Twist protein is a basic helix-loop-helix (bHLH) transcription factor that binds to specific DNA sequences and regulates the expression of target genes. It forms homodimers or heterodimers with other bHLH proteins, which then recognize and bind to E-box motifs in the promoter regions of target genes.
Twist proteins have been shown to play critical roles in various biological processes, including cell differentiation, proliferation, migration, and survival. In particular, they have been implicated in cancer progression and metastasis, as they can promote epithelial-mesenchymal transition (EMT), a key step in tumor invasion and dissemination.
Abnormal expression or mutations of Twist transcription factors have been associated with several human diseases, including various types of cancer, developmental disorders, and neurological conditions.