BRACHMANN‐DE LANGE SYNDROME: A report of four cases

Abstract

SYNOPSIS This uncommon syndrome is characterized by severe physical and mental retardation associated with a typical appearance. Four patients, considered to be examples of this syndrome, are described, and information from 5 autopsies in the literature, together with the autopsy findings in one of the authors' cases, provide a basis for discussion of the abnormalities in this syndrome.

Medical Disorders with Associated Dermatoglyphic Abnormalities

“…(1971), , Bryson et al ( 1971 ), Cherington et ai. ( 1969), Choo and Bianchi (1965), Dodge (1965), Falek et ai. (1966), Gans and Thurston (1965), Rooft et ai., (1965), Jervis and Stimson (1963), Kurlander andDeMyer (1967), McArthur and, Milot andDemay (1972), Not!…”

Brachmann-de Lange Syndrome

“…There are several reports of two siblings being affected5 and two reports of female twins concordantly affected with this syndrome. [5][6][7] The subject of this report is a fam¬ ily in which a boy and a girl in the same sibship were affected with the Cornelia de Lange syndrome.…”

An explosion, a tsunami, a runaway train: Half a century of genetics

“…Genetics was a major early focus of the Journal. The first few issues included articles on congenital adrenal hyperplasia, Down syndrome, Cornelia de Lange syndrome, Sotos syndrome and an autosomal recessive form of Addison disease . The quality of that early work was remarkably high and demonstrated that paediatrics in Australia and New Zealand was up to date with advances in cytogenetics and genetic theory in general.…”