Brachmann-de Lange syndrome with normal IQ.
The Brachmann-de Lange syndrome is a disorder with a high degree of clinical variability, generally associated with moderate to severe mental retardation. To date, 7 previous cases of Brachmann-de Lange syndrome with normal intelligence (IQ > 70) have been described. We report the eighth case of Brachmann-de Lange syndrome with normal intelligence. In reviewing the literature, consistent clinical manifestations seen in these 8 patients that are of prognostic value are the absence of significant limb anomalies and birth weight > 2,500 g.
Saal
H M
HM
Department of Medical Genetics, Children's National Medical Center, Washington, DC 20010.
Samango-Sprouse
C A
CA
Rodnan
L A
LA
Rosenbaum
K N
KN
Custer
D A
DA
D002675:Child, Preschool; D003635:De Lange Syndrome / Q000235:genetics / Q000473:pathology / Q000523:psychology*; D005145:Face / Q000002:abnormalities; D006801:Humans; D007360:Intelligence; D017880:Limb Deformities, Congenital; D008297:Male; D010641:Phenotype