Orofaciodigital syndrome with mesomelic limb shortening.

Two sisters, the children of first cousin Pakistani Moslem parents, have unusual facies, tongue hamartomata, pre- and postaxial polydactyly, severe talipes, and mesomelic limb shortening associated with tibial dysplasia. Homozygosity for a recessive gene defect is probable. The phenotype resembles,...

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Autors principals: Burn, J, Dezateux, C, Hall, C M, Baraitser, M
Format: Artigo
Idioma:Inglês
Publicat: 1984
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049264/
https://ncbi.nlm.nih.gov/pubmed/6748015
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