Simpson-Golabi-Behmel syndrome: an X-linked encephalo-tropho-schisis syndrome.
We report on another family with the so-called "gigantism-dysplasia syndrome", an X-linked condition characterized by pre- and postnatal overgrowth, characteristic face with apparent coarseness, dysplastic changes in several tissues, and mild intellectual impairment. This condition has been called the Golabi-Rosen syndrome; however, we agree that is the same entity as that described, in a milder form, by Simpson et al in 1975 and by Behmel et al in 1984. Therefore, we suggest that this entity be designated the Simpson-Golabi-Behmel syndrome. The manifestations in affected individuals suggest that this condition represents an X-linked encephalo-tropho-schisis syndrome.
Neri
G
G
Istituto di Biologia e Genetica, Università G. D'Annunzio, Italy.
Marini
R
R
Cappa
M
M
Borrelli
P
P
Opitz
J M
JM
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002648:Child; D005145:Face / Q000002:abnormalities; D005260:Female; D008040:Genetic Linkage; D005877:Gigantism / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D010375:Pedigree; D014960:X Chromosome