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

Autor:	Fahed Halal, Kenneth Silver
Rok vydání:	1992
Předmět:	Metatarsus adductus Microcephaly Unusual dermatoglyphics Growth retardation Brachmann de Lange syndrome medicine Severe metatarsus adductus Autosomal dominant trait Anatomy Biology medicine.disease Genetics (clinical) Dysmorphic facies
Zdroj:	American Journal of Medical Genetics. 42:381-386
ISSN:	1096-8628 0148-7299
DOI:	10.1002/ajmg.1320420328
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::9943478b1c126b17f9dcb03e60b4fdc2 https://doi.org/10.1002/ajmg.1320420328 Zobrazit plný text záznamu Plný text