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Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum.
Schrander-Stumpel, C T; De Groot-Wijnands, J B; De Die-Smulders, C; Fryns, J P.
Afiliación
  • Schrander-Stumpel CT; Department of Clinical Genetics, Academic hospital Maastricht, The Netherlands.
Genet Couns ; 4(4): 271-6, 1993.
Article en En | MEDLINE | ID: mdl-8110413
A newborn male patient presented with complete cutaneous syndactyly of fingers 3-5 in the left hand and fingers 4-5 in the right hand. The mother and maternal grandmother were born with the same hand malformation. Facial features in the mother showed a thin nose and small teeth; eyes were normal. In the grandmother, teeth had been very small with enamel hypoplasia; eyes were normal. The present family provides evidence of the variable expression in oculodentodigital dysplasia. Inheritance is autosomal dominant.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Iris / Microftalmía / Sindactilia / Hipoplasia del Esmalte Dental / Cara Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: Genet Couns Asunto de la revista: ETICA / GENETICA MEDICA Año: 1993 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Suiza
Buscar en Google
Añadir a Mi BVS
Imprimir
XML
PubMed Links

Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Iris / Microftalmía / Sindactilia / Hipoplasia del Esmalte Dental / Cara Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Infant / Male / Middle aged / Newborn Idioma: En Revista: Genet Couns Asunto de la revista: ETICA / GENETICA MEDICA Año: 1993 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Suiza