1/20. Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome.Proximal symphalangism is an autosomal-dominant disorder with ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. These symptoms are shared by another disorder of joint morphogenesis, multiple synostoses syndrome. Recently, it was reported that both disorders were caused by heterozygous mutations of the human noggin gene (NOG). To date, seven mutations of NOG have been identified from unrelated families affected with joint morphogenesis. To characterize the molecular lesions of proximal symphalangism, we performed analyses of NOG in three Japanese individuals with proximal symphalangism. We found three novel mutations: g.551G>A (C184Y) in a sporadic case of symphalangism, g.386T>A (L129X) in a familial case of symphalangism, and a g.58delC (frameshift) in a family with multiple synostosis syndrome. Characteristic genotype-phenotype correlations have not been recognized from the mutations in the NOG gene.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
2/20. Humeroradial synostosis, ulnar aplasia and oligodactyly, with contralateral amelia, in a child with prenatal cocaine exposure.Humeral "bifurcation" due to humeroradial synostosis, and amelia are both very rare limb anomalies. We report on a Canadian. Aboriginal boy with both these limb deficiencies. The family history was unremarkable, but he was exposed prenatally to cocaine at the time of limb development. Humeroradial synostosis with ulnar aplasia has been reported by several authors. The majority of cases are unilateral. When both upper limbs arms are involved, cases with oligodactyly often have asymmetrical limb deficiencies and have all been sporadic to date. Some appear to represent cases of the femur-fibula-ulna or FFU complex. Affected individuals with normal hands usually have symmetrical defects and show an autosomal recessive pattern of inheritance. Limb deficiencies have been reported in several infants exposed prenatally to cocaine and have been inducible in animal models. Most are terminal transverse defects or deficiencies of middle digits. When more than one limb is involved, the defects are usually asymmetric. Our case appears to be one of the most severely affected children reported to date.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
3/20. Mild facial dysmorphism and quasidominant inheritance in Cenani-Lenz syndrome.Cenani-Lenz syndrome (CLS; MIM 212780) is a rare autosomal recessive syndactyly/synostosis syndrome. No facial dysmorphism was previously noted. We studied two families; in the first an affected female had a previously affected brother and her father was said to have been similarly affected. Extensive inbreeding in this family suggests quasidominant inheritance. In the second family there was a history of a similarly affected sib who, in addition, had genital anomalies and cleft palate. The parents were first cousins. Both probands had similar mild facial dysmorphism; a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose, a short prominent philtrum and malar hypoplasia. The present report suggests mild facial dysmorphism and quasidominant inheritance in one family with Cenani-Lenz syndrome.- - - - - - - - - - ranking = 3keywords = family (Clic here for more details about this article) |
4/20. Dominant mesomelic dysplasia, ankle, carpal, and tarsal synostosis type: a new autosomal dominant bone disorder.A new type of mesomelic dysplasia was in 3 generations of a large Thai family. It is characterized by bilateral symmetrical marked shortening of the ulnae and shortening and bowing of the radii. The proximal fibula is usually short and synostoses are present between the tibia and fibula and the small malformed calcaneus and talus. The prominent calcanei on the ventral surfaces of the distal fibulae are a characteristic feature of the new type. Carpal and tarsal synostoses are present in some affected people. All affected individuals walk on the tips of their toes with the dorsal foot deviated laterally. The deformities of the radius and ulna somewhat resemble those of mesomelic dysplasia, Langer type, but otherwise the condition is distinctly different. This new mesomelic dysplasia is an autosomal dominant trait with complete penetrance and variable expressivity over 3 generations.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
5/20. Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis.In 1994, Giuffre et al. reported two unrelated families in which some of the members had microcephaly and radio-ulnar synostosis, suggesting a new condition. Since this first report, Tsukahara et al. and Udler et al. described two distinct patients with a different condition characterized by radio-ulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation. Here we report on a new case of microcephaly and radio-ulnar synostosis and discuss the possible relationship between Tsukahara's syndrome and the phenotype described by Giuffre et al.- - - - - - - - - - ranking = 0.0057884497571938keywords = member (Clic here for more details about this article) |
6/20. Humeroulnar synostosis: case report.This is a report of a case of humeroulnar synostosis at the right elbow of a native Nigerian girl in whose family there is no history of genetic/hereditary diseases. This defect was not associated with any other deformity. This is a rare defect that has never been mentioned in literature. By excluding any causes, this case has been proved to be a failure of differentiation that is one of the major categories in the classification of congenital limb defects by Alfred B. Swanson.- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
7/20. Teunissen-Cremers syndrome: a clinical, surgical, and genetic report.OBJECTIVE: To describe clinical and radiologic features, results of ear surgery, and genetic analysis in three families with Teunissen-Cremers syndrome. DESIGN: Case series. SETTING: Tertiary referral center. BACKGROUND: The NOG gene encodes the protein noggin, which has antagonist action in osteogenesis. Malformation of bones and joints may result from defects in noggin. Teunissen-Cremers syndrome is caused by mutations in the NOG gene. Two mutations in this gene were reported previously. The proximal symphalangism-hearing impairment syndrome, also caused by mutations in the NOG gene, is characterized by proximal symphalangism, conductive hearing loss, and occasionally synostoses. methods: We examined nine affected members of three Dutch families. Reconstructive middle ear surgery was performed in five patients (nine ears), and we sequenced the NOG gene in these families. RESULTS: Affected members had conductive hearing impairment, hyperopia, and broad thumbs and first toes with brachytelephalangia. Surgery manifested stapes ankylosis with additional incudal fixation frequently in the fossa incudis. air-bone gaps decreased to less than 10 dB in six ears. Genetic analysis revealed three new mutations in the NOG gene. CONCLUSION: The Teunissen-Cremers syndrome is an entity in its clinical presentation, distinct from other syndromes with proximal symphalangism and hearing impairment. So far, in five families with Teunissen-Cremers syndrome, four truncating mutations and one amino acid substitution were found in the NOG gene. The majority of other mutations found in this gene are missense mutations, which might result in some residual protein activity. Reconstructive middle ear surgery is an option for treatment.- - - - - - - - - - ranking = 0.011576899514388keywords = member (Clic here for more details about this article) |
8/20. Familial symphalangism syndrome transmitted through five generations.We report on proximal symphalangism of the four last fingers, transmitted through five generations of an African family. Intrafamilial variations of the disorder are due to the heterogeneity of associated anomalies. This familial trait resembles multiple synostosis disease, however, it is not restricted to synostoses and appears to be more generalised. To our knowledge this is the first report of a familial trait associating proximal and distal symphalangism. The distribution of elementary anomalies in this family suggests a link in their pathogeny and raises the question of embryological equivalence for some of them. Symphalangism seems to be a symptom of a more generalised disorder, the comprehension of which requires a better coordination of clinical, embryological and genetic data.- - - - - - - - - - ranking = 2keywords = family (Clic here for more details about this article) |
9/20. An autosomal dominant facio-audio symphalangism syndrome with Klippel-Feil anomaly: a new variant of multiple synostoses.A family is reported in which at least the propositus, his mother and his grandfather suffer from proximal symphalangism, conductive hearing loss due to stapes fixation, Klippel-Feil anomaly and abnormality of the nose with lack of alar flare. It is noteworthy that the first metacarpal bone is not abnormal. This association is delineated from two other "facio-audio-symphalangism" syndromes and from Wildervanck syndrome. Our observation confirms one previous description only by Pierson et al. (1981).- - - - - - - - - - ranking = 1keywords = family (Clic here for more details about this article) |
10/20. Re-evaluation of new X-linked syndrome for evidence of charge syndrome or association.Previously, we reported on a family with a new syndrome of cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis. This family has been cited in several reports as an example of familial charge syndrome. We do not think that the patients in this family have the charge syndrome or association. Therefore, we decided to do a follow-up study on this family to assess the subsequent development of the patients and to determine if they have the charge syndrome. We conclude that our patients do not have familial charge syndrome.- - - - - - - - - - ranking = 4keywords = family (Clic here for more details about this article) |
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