Mild mental retardation with classic somatic phenotype in the Brachmann-de Lange syndrome.
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-to-moderate range of mental retardation.
Clericuzio
C L
CL
Department of Pediatrics, University of New Mexico School of Medicine, Albuquerque 87131.
D002648:Child; D002675:Child, Preschool; D003635:De Lange Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000523:psychology; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics; D010641:Phenotype; D011379:Prognosis