Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.
نویسندگان
چکیده
A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represent a previously undescribed autosomal dominant trait.
منابع مشابه
Human Mutation MUTATION UPDATE A Comprehensive Review of Reported Heritable Noggin- Associated Syndromes and Proposed Clinical Utility of One Broadly Inclusive Diagnostic Term: NOG-Related- Symphalangism Spectrum Disorder (NOG-SSD)
The NOG gene encodes noggin, a secreted polypeptide that is important for regulating multiple signaling pathways during human development, particularly in cartilage and bone. The hallmark of NOG-related syndromes is proximal symphalangism, defined by abnormal fusion of the proximal interphalangeal joints of the hands and feet. Many additional features secondary to NOG mutations are commonly but...
متن کاملRecurrent missense mutation of GDF5 (p.R438L) causes proximal symphalangism in a British family
Proximal symphalangism (SYM1B) (OMIM 615298) is an autosomal dominant developmental disorder affecting joint fusion. It is characterized by variable fusions of the proximal interphalangeal joints of the hands, typically of the ring and little finger, with the thumb typically being spared. SYM1 is frequently associated with coalition of tarsal bones and conductive hearing loss. Molecular studies...
متن کاملSymphalangism and tarsal coalitions: a hereditary syndrome. A report on two families.
Symphalangism was the term used by Harvey Cushing (1916) in his description of a family in which eighty-four persons among 313 examined exhibited a dominantly inherited ankylosis of the interphalangeal joints of the hand. There have been many other reports of families in which symphalangism occurs with no other associated skeletal abnormality (see bibliography). In fact, if Drinkwater’s chronic...
متن کاملBrachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: a new syndrome.
Five members of a kindred with brachydactyly and distal symphalangism, normal stature, pes cavus, and scoliosis were ascertained. The pedigree was consistent with autosomal dominant inheritance. The combination of clinical and radiological features is believed to be distinct from those previously reported in patients with brachydactyly/symphalangism.
متن کاملFamilial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene.
The craniosynostoses, the premature closure of the cranial sutures, are a common heterogeneous group of disorders, affecting about 1 in 2000 children at birth. About 20% have a distinct syndrome defined on clinical and family grounds. The delineation of these syndromes has become more precise with molecular analysis. Mutations in the fibroblast growth factor receptor 1, 2, 3 loci have been iden...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 13 5 شماره
صفحات -
تاریخ انتشار 1976