Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome?

F Halal; K Silver

doi:10.1002/ajmg.1320420328

Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome?

Am J Med Genet. 1992 Feb 1;42(3):381-6. doi: 10.1002/ajmg.1320420328.

Authors

F Halal¹, K Silver

Affiliation

¹ Division of Medical Genetics, Montreal Children's Hospital, McGill University, Quebec, Canada.

PMID: 1536185
DOI: 10.1002/ajmg.1320420328

Abstract

We report on 4 individuals (3 sibs and their father) with a syndrome of growth retardation, microcephaly, minor facial anomalies reminiscent of a mild Brachmann-de Lange syndrome (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics. The syndrome, which seems to be inherited as an autosomal dominant trait with variable expressivity, resembles mild BDLS.

Publication types

Case Reports

MeSH terms

Adult
Child
Child, Preschool
Chromosome Aberrations / genetics
Chromosome Disorders
Chromosomes, Human, Pair 22 / ultrastructure
De Lange Syndrome / genetics
De Lange Syndrome / physiopathology*
Female
Humans
Intellectual Disability / genetics
Male
Metatarsus / abnormalities*
Microcephaly / complications*
Microcephaly / genetics