title: [The Simpson-Golabi-Behmel syndrome. The stages of a diagnostic procedure].
abstract: We report on an Italian patient with growth excess, course face and normal psychomotor development, who had a diagnosis of Simpson-Golabi-Behmel. The clinical difference between this syndrome and lysosomal diseases and other syndromes with overgrowth is discussed.
authors.affiliation: II Divisione Pediatrica, Istituto G. Gaslini, Genova.
authors.forename: M
authors.initials: M
authors.lastname: Di Rocco
authors.forename: E
authors.initials: E
authors.lastname: Lignana
authors.forename: M
authors.initials: M
authors.lastname: Faraci
authors.forename: L
authors.initials: L
authors.lastname: Leveratto
authors.forename: C
authors.initials: C
authors.lastname: Borrone
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D005145:Face / Q000002:abnormalities*; D008040:Genetic Linkage; D005877:Gigantism / Q000175:diagnosis* / Q000235:genetics; D006130:Growth Disorders / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D016464:Lysosomal Storage Diseases / Q000175:diagnosis; D008297:Male; D013577:Syndrome; D014960:X Chromosome
vernacular_title: Sindrome di Simpson-Golabi-Behmel. Tappe di un iter diagnostico.