Facies: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)Abnormalities, MultipleSyndrome: A characteristic symptom complex.Micrognathism: Abnormally small jaw.Face: The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.Muscle Hypotonia: A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Facial DermatosesMicrocephaly: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)Alagille Syndrome: A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).Dwarfism: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.Eyebrows: Curved rows of HAIR located on the upper edges of the eye sockets.Musculoskeletal Abnormalities: Congenital structural abnormalities and deformities of the musculoskeletal system.Facial Bones: 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)Consanguinity: The magnitude of INBREEDING in humans.Growth Disorders: Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth.Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Heart Defects, Congenital: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.Infant, Newborn: An infant during the first month after birth.Chromosome Deletion: Actual loss of portion of a chromosome.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Facies (medical): In medical contexts, a facies is a distinctive facial expression or appearance associated with specific medical conditions.Epicanthic fold: Epicanthic fold (), epicanthal fold, epicanthus, or simply eye fold are names for a skin fold of the upper eyelid, covering the inner corner (medial canthus) of the eye. Other names for this trait include plica palpebronasalis and palpebronasal fold..Malformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).Pre-replication complex: A pre-replication complex (pre-RC) is a protein complex that forms at the origin of replication during the initiation step of DNA replication. Formation of the pre-RC is required for DNA replication to occur.Face.com: Face.com was a Tel Aviv-based technology company that developed a platform for efficient and accurate facial recognition in photos uploaded via web and mobile applications.Brian Steel: Brian Charles Steel is a photographer based in Atlanta, Georgia, known for his lyrical and sympathetic portrayals of individuals with disabilities. He was diagnosed as an infant with a rare muscle disorder that left him handicapped, inspiring him to create art that belies his condition.Hyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.Granuloma facialeMicrocephaly lymphoedema chorioretinal dysplasia: Microcephaly lymphoedema chorioretinal dysplasia (MLCRD) is a genetic condition associated with:Alagille syndrome: (EUROCAT Q44.71)Dwarfism: Dwarf}}Eyebrow: The eyebrow is an area of thick, delicate hairs above the eye that follows the shape of the lower margin of the brow ridges of some mammals. Their main function is hypothesized to prevent sweat, water, and other debris from falling down into the eye socket, but they are also important to human communication and facial expression.Musculoskeletal abnormalityCousin couple: A cousin couple is a pair of cousins who are involved in a romantic or sexual relationship.Idiopathic short staturePedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary - About.com, a part of The New York Times Company.OpsismodysplasiaCongenital heart defectPhenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Genetic imbalance: Genetic imbalance is to describe situation when the genome of a cell or organism has more copies of some genes than other genes due to chromosomal rearrangements or aneuploidy.
(1/242) Growth in Sotos syndrome.
Although there are several reports on infant and childhood growth in patients with Sotos syndrome, there is little information on the final height achieved and puberty. Growth data on 40 patients (20 female and 20 male) aged 2-31 years were collected. These showed that patients with Sotos syndrome are excessively tall at birth, during infancy, and during childhood. Disproportionately long limbs constitute much of the increase in stature. However, the combination of advanced bone age and early onset of menarche led to a mean (SD) final height of 172.9 (5.7) cm in women. This is within the normal range for the population. Most of the men also attained a final height (mean, 184.3 cm; SD, 6.0) within the normal range, although exceptions were more likely in men than in women. Therefore, these results show that most patients with Sotos syndrome do not require intervention to limit their adult height. (+info)
(2/242) Study of the cell biology and biochemistry of cherubism.
AIMS: To establish whether the multinucleate cells in lesions of patients with cherubism are also osteoclasts and if this is the case whether they were responsive to calcitonin; to carry out cytogenetic studies on two members of the same family affected by cherubism in an attempt to identify any major chromosomal defects; and to perform an in-depth modern biochemical study of four children in the same family. SUBJECTS AND METHODS: Four related children with cherubism were studied. Tissue taken from one of the children at elective decompression of an optic nerve was submitted to in vitro bone resorption studies. Cytogenetic studies were done on two of the children and biochemical studies on all four. RESULTS: The multinucleate cells in the cherubic lesions were shown to be osteoclasts since they synthesised tartrate resistant acid phosphatase, expressed the vitronectin receptor, and resorbed bone. Bone resorption by the cultured multinucleate cells was significantly inhibited by calcitonin. High resolution cytogenetic studies failed to detect any chromosomal abnormalities in two children with cherubism. The biochemistry profile of all four children with cherubism showed that serum calcium, parathyroid hormone, parathyroid related hormone, calcitonin, and alkaline phosphatase were within normal levels. Urine analysis of pyridinium and deoxypyridinium cross links, hydroxyproline, and calcium in relation to urine creatinine were measured to assess bone resorption in these children, and the values were at the upper end of the normal range in all four. CONCLUSIONS: Further studies are required to determine whether calcitonin treatment will control this grossly deforming disease until the time when the physiological changes that occur at puberty rectify the pathology. It is not recommended that biochemical markers of bone resorption are used in isolation to monitor the activity of cherubism in individuals because the results are based on a small number of children and because of reports of marked interindividual variation in the levels of these markers, particularly in children. (+info)
(3/242) A single technique to correct various degrees of upper lid retraction in patients with Graves' orbitopathy.
BACKGROUND: Several lengthening techniques have been proposed for upper eyelid retraction in patients with Graves' orbitopathy and variable rates of success have been reported. Most authors recommend different procedures for different degrees of retraction, but cannot prevent residual temporal retraction in a significant number of cases. The modified levator aponeurosis recession described by Harvey and colleagues, in which the lateral horn is cut completely, seems to be an exception to this rule, but was evaluated in a limited number of cases only. METHOD: The authors further modified Harvey's technique by dissecting the aponeurosis together with Muller's muscle of the tarsus and the conjunctiva medially only to the extent necessary to achieve an acceptable position and contour of the eyelid in upright position. They also used an Ethilon 6.0 suture, instead of Vicryl, on a loop. It is placed between the tarsal plate and the detached aponeurosis to prevent spontaneous disinsertion. This modification was used in 50 Graves' patients (78 eyelids) with a upper lid margin-limbus distance ranging from 1 to 7 mm and evaluated using strict criteria. RESULTS: A perfect or acceptable result was obtained in 23 of 28 patients (82%) with bilateral retraction and in 18 of 22 patients (82%) with unilateral retraction. Seven eyelids were overcorrected (too low) and three undercorrected, necessitating reoperation. All other eyelids had an almond-like contour and a lid crease of 10 mm or less. No complications except subcutaneous haematomas were seen. Two patients showed a recurrence of lid retraction 9 months after the operation. CONCLUSION: This technique is safe and efficacious and can be used for all degrees of eyelid retraction. (+info)
(4/242) Temporomandibular joint ankylosis: the Egyptian experience.
This is a review of 204 patients with temporomandibular joint (TMJ) ankylosis treated according to a definitive protocol in the Cranio-Maxillo-Facial Department of the Alexandria University Hospital during the period 1990-1996 with a follow-up varying from 1.5 to 7 years. A history of trauma was confirmed in 98% of cases. Patients were grouped into: (1) Those with ankylosis not associated with facial deformities. The management involves release of the ankylosed joint(s) and reconstruction of the condyle ramus unit(s) (CRUs) using costochondral graft(s) (CCGs). (2) Those with mandibular ankylosis complicated by facial bone deformities, either asymmetric or bird face. The treatment consists of release of the ankylosis, reconstruction of the CRUs, and correction of jaw deformities--all performed simultaneously. Respiratory embarrassment was an important presenting symptom in the second group, all of whom complained of night snoring, eight of whom had obstructive sleep apnoea (OSA). In this latter group, respiratory obstruction improved dramatically after surgical intervention. The degree of mouth opening, monitored as the interincisal distance (IID) improved from a range of 0-12 mm to over 30 mm in 62% of patients and to 20-30 mm in 29% of patients. However, reankylosis was still around 8% and was attributed to lack of patient compliance in 75% and to iatrogenic factors in 25% of patients. CCGs resorption, whether partial or complete, occurred in 27% of patients, resulting in retarded growth, relapse of deformities and night snoring. (+info)
(5/242) Prenatal sonographic diagnosis of Aarskog syndrome.
In 1970, Aarskog described a rare X-linked developmental disorder characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia (faciodigitogenital syndrome). The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak hair anomaly, and ocular and ear anomalies. Limb abnormalities consist of short broad hands, brachydactyly, interdigital webbing, hypoplasia of the middle phalanges, proximal interphalangeal joint laxity with concomitant flexion and restriction of movement of distal interphalangeal joints, and flat broad feet with bulbous toes. Genital anomalies are characteristics and include shawl scrotum, cryptorchidism, and inguinal hernia. Most affected patients have normal intelligence, but some authors have noted mild neurodevelopmental delay in up to 30% of the cases. We describe a case of Aarskog syndrome diagnosed prenatally by sonography at 28 weeks' gestation in a high-risk pregnancy for this disorder. (+info)
(6/242) X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.
To date over 150 X linked mental retardation (XLMR) conditions have been documented. We describe a five generation South African family with XLMR, comprising 16 affected males and 10 carrier females. The clinical features common to the 16 males included profound mental retardation (100%), mutism despite apparently normal hearing (100%), grand mal epilepsy (87.5%), and limited life expectancy (68.8%). Of the four affected males examined, all had mild craniofacial dysmorphology and three were noted to have bilateral ophthalmoplegia and truncal ataxia. Three of 10 obligate female carriers had mild mental retardation. Cerebellar and brain stem atrophy was shown by cranial imaging and postmortem examination. Linkage analysis shows the gene to be located between markers DXS424 (Xq24) and DXS548 (Xq27.3), with a maximum two point lod score of 3.10. (+info)
(7/242) Identification of supernumerary marker chromosomes derived from chromosomes 5, 6, 19, and 20 using FISH.
A large number of cases with supernumerary marker chromosomes (SMCs) should be compared to achieve a better delineation of karyotype-phenotype correlations. Here we present four phenotypically abnormal patients with autosomal marker chromosomes analysed by fluorescence in situ hybridisation using centromeric, telomeric, and unique sequence probes, as well as forward and reverse painting. We also report the first case, to the best of our knowledge, of an SMC derived from chromosome 5. Furthermore, a marker chromosome 20 in a patient with sex differentiation abnormalities, a double mar(6) in a boy with psychomotor retardation, and the association of r(19) with dup(21q21.2q22.12) are described. Although the mar(6) was very small, the presence of euchromatin was shown, suggesting that the partial trisomy of pericentric region derived sequences is implicated in the aetiology of the abnormal phenotypes. (+info)
(8/242) A supernumerary marker chromosome originating from two different regions of chromosome 18.
By random amplification of a microdissected chromosome using the degenerate oligonucleotide primed polymerase chain reaction (DOP-PCR) and forward painting (microFISH), we characterised an extra structurally abnormal chromosome (ESAC) or supernumerary marker chromosome in a mentally retarded girl with a pattern of dysmorphic features. It could be clearly shown that the small marker chromosome originates from two different regions of chromosome 18, 18p11.1-->18q11.1 and 18q12.3-->18q21.1 respectively. Maternal origin of the de novo ESAC and biparental origin of the normal homologues of chromosome 18 were shown by PCR of several highly polymorphic microsatellites. In this case, application of microFISH was a prerequisite for rapid and precise characterisation of an ESAC. A definite identification of this discontinuous supernumerary marker chromosome would not have been possible using FISH with centromere specific probes or multicolour FISH approaches. (+info)
Download our free solidary book to support research on VHL disease