A case with bilateral radio-ulnar synostosis.
Genet Couns
; 19(2): 193-8, 2008.
Article
en En
| MEDLINE
| ID: mdl-18618994
ABSTRACT
Congenital radio-ulnar synostosis may be an isolated abnormality or additional abnormalities may accompany it. It may also be found as a part of well-known syndromes. We present a case with bilateral congenital radio-ulnar synostosis, speech delay, dimple on shoulders, café au lait spot and characteristic facial appearance. The proband has a brother with similar clinical findings with the exception of congenital radio-ulnar synostosis. We discuss the possible relationship between our case and previously described syndromes with congenital radio-ulnar synostosis, and distinct phenotypic features of the presented case.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Radio (Anatomía)
/
Sinostosis
/
Cúbito
/
Anomalías Múltiples
Límite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Genet Couns
Asunto de la revista:
ETICA
/
GENETICA MEDICA
Año:
2008
Tipo del documento:
Article
País de afiliación:
Turquía