[The Simpson-Golabi-Behmel syndrome. The stages of a diagnostic procedure].
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.
Di Rocco
M
M
II Divisione Pediatrica, Istituto G. Gaslini, Genova.
Lignana
E
E
Faraci
M
M
Leveratto
L
L
Borrone
C
C
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
Sindrome di Simpson-Golabi-Behmel. Tappe di un iter diagnostico.