New skeletal dysplasia with unique brachydactyly.
Am J Med Genet
; 42(5): 706-13, 1992 Mar 01.
Article
en En
| MEDLINE
| ID: mdl-1632443
We report on 2 male propositi, their mothers, and a maternal aunt with a new skeletal dysplasia associated with a unique pattern of digital malformation, variable mild short stature, and mild bowleg with proximal overgrowth of the fibula. The digital malformations comprise a pattern of brachydactyly which includes short, abducted thumbs, short index fingers, and markedly short, abducted great toes. The radiographic findings include hypoplastic thumbs and great toes with short first metacarpals and first metatarsals, absent distal phalanges of the index fingers and second toes, and coalescence of the carpal and tarsal bones. Radiographs of the long bones show mild metaphyseal and epiphyseal irregularity, tibial spurs, and relative elongation of the fibulae. The males are very similarly affected whereas the females show phenotypic variation and are generally less severely affected. The family histories from 2 fairly extensive pedigrees suggest X-linked dominant inheritance.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cromosoma X
/
Enfermedades del Desarrollo Óseo
/
Dedos del Pie
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Dedos
/
Genes Dominantes
/
Ligamiento Genético
Tipo de estudio:
Diagnostic_studies
Límite:
Adolescent
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Adult
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Child
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Female
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Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1992
Tipo del documento:
Article
Pais de publicación:
Estados Unidos