title: Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome.
abstract: 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.
authors.affiliation: Istituto di Genetica Medica, Facoltà di Medicina e Chirurgia A. Gemelli, U.C.S.C., Roma, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Gurrieri
authors.forename: M
authors.initials: M
authors.lastname: Cappa
authors.forename: G
authors.initials: G
authors.lastname: Neri
mesh_terms: 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