Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (Smith-Lemli-Opitz...

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Bibliografiske detaljer
Main Authors: Verloes, A, Aymé, S, Gambarelli, D, Gonzales, M, Le Merrer, M, Mulliez, N, Philip, N, Roume, J
Format: Artigo
Sprog:Inglês
Udgivet: 1991
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016846/
https://ncbi.nlm.nih.gov/pubmed/1865466
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