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Article

Mild Brachmann-de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six-year-old boy.

American journal of medical genetics - 15 Nov 1993

Bay C, Mauk J, Radcliffe J, Kaplan P

Abstract excerpt

Brachmann-de Lange syndrome (BDLS) is a rare multiple congenital anomaly/mental retardation (MCA/MR) syndrome with variable expression, making diagnosis of mild cases difficult. The most consistent manifestations appear to be the characteristic face, which can be subtle in children who are mildly affected [Ireland and Burn, 1991: Twelfth Annual David W. Smith Workshop on Malformations and Morphogenesis]. Other...

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Identifiers

PMID: 7507294
DOI: 10.1002/ajmg.1320470706

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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