Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome.
The Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, "coarse" face, postaxial polydactyly, midline defects, and psychomotor development ranging from normal to mildly retarded. We report on an additional sporadic patient with novel manifestations, contributing to a more thorough delineation of this syndrome.
Gurrieri
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Istituto di Genetica Medica, Facoltà di Medicina e Chirurgia A. Gemelli, U.C.S.C., Roma, Italy.
Cappa
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Neri
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D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002311:Cardiomyopathy, Dilated / Q000235:genetics; D005145:Face / Q000002:abnormalities; D008040:Genetic Linkage; D006130:Growth Disorders / Q000235:genetics; D006548:Hernia, Diaphragmatic / Q000235:genetics; D006801:Humans; D008297:Male; D009558:Nipples / Q000002:abnormalities; D013577:Syndrome; D014960:X Chromosome