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Mild mental retardation with classic somatic phenotype in the Brachmann-de Lange syndrome

✍ Scribed by Clericuzio, Carol L.

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 286 KB
Volume: 47
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320470710

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✦ Synopsis

Severe mental retardation is the most handicapping disability for individuals with Brachmann-de Lange syndrome (BDLS). Reports of higher functioning patients with suspected BDLS have invariably described those with a "mild" BDLS somatic phenotype. Here we report on 2 high-functioning females, ages 3.7 and 10.6 years, with the classic BDLS somatic phenotype, i.e., all growth parameters at 4-5 standard deviations below the mean prenatally and postnatally. These 2 patients serve to extend the spectrum of classic BDLS to include cognitive function in the mild-tomoderate range of mental retardation.

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