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. 1991 May;28(5):297–303. doi: 10.1136/jmg.28.5.297

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

A Verloes 1, S Aymé 1, D Gambarelli 1, M Gonzales 1, M Le Merrer 1, N Mulliez 1, N Philip 1, J Roume 1
PMCID: PMC1016846  PMID: 1865466

Abstract

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 syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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