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A male with type I orofaciodigital syndrome.

We describe a three generation family with three females showing minor features of orofaciodigital syndrome type I and a severely affected male in the third generation. In addition to the classical features of OFD I, the male had bilateral duplication of the halluces, a feature diagnostic of OFD II,...

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Bibliografische gegevens
Gepubliceerd in:J Med Genet
Hoofdauteurs: Goodship, J, Platt, J, Smith, R, Burn, J
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Publishing Group 1991
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1017056/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1941964/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.10.691
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