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

A Verloes; S Aymé; D Gambarelli; M Gonzales; M Le Merrer; N Mulliez; N Philip; J Roume

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

J Med Genet. 1991 May;28(5):297-303. doi: 10.1136/jmg.28.5.297.

Authors

A Verloes¹, S Aymé, D Gambarelli, M Gonzales, M Le Merrer, N Mulliez, N Philip, J Roume

Affiliation

¹ Centre for Human Genetics, Liège University, CHU Sart-Tilman, Belgium.

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.

Publication types

Case Reports
Multicenter Study
Review

MeSH terms

Abnormalities, Multiple / classification*
Abnormalities, Multiple / diagnosis
Abnormalities, Multiple / genetics
Chromosomes, Human, Pair 13*
Consanguinity
Diagnosis, Differential
Female
Fetal Death / etiology
Fetal Diseases / diagnosis
Fingers / abnormalities*
Genes, Recessive
Holoprosencephaly / classification
Holoprosencephaly / diagnosis*
Holoprosencephaly / genetics
Humans
Infant, Newborn
Male
Prenatal Diagnosis
Syndrome
Thanatophoric Dysplasia / diagnosis
Trisomy*