[Simpson-Golabi-Behmel syndrome. A new overgrowth syndrome with increased risk of tumor development].
Simpson-Golabi-Behmel's syndrome is characterized by pre- and postnatal overgrowth, coarse face, visceromegali, congenital anomalies such as heart defects, diaphragmatic hernia and gastrointestinal malformations. Etiology is X-linked inheritance, the causative gene (GPC3) has recently been discovered. Female carriers may have mild symptoms. We report on an eight year old boy with characteristic anomalies and moderately retarded psychomotor development. Differentiating Simpson-Golabi-Behmel's syndrome and other overgrowth syndromes, such as Beckwith-Wiedemann's and Sotos' syndrome can be difficult. Clinical overlap and differences between these three conditions are discussed. The diagnosis of Simpson-Golabi-Behmel's syndrome is important because of increased risk for cardiac arrhytmias and for development of embryonal tumors such as neuroblastoma and Wilms' tumor in early childhood.
Weidle
B
B
Barneklinikken Regionsykehuset i Trondheim.
Orstavik
K H
KH
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D003937:Diagnosis, Differential; D004431:Ear, External / Q000002:abnormalities; D005145:Face / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009056:Mouth Abnormalities / Q000175:diagnosis / Q000235:genetics; D009373:Neoplasms, Germ Cell and Embryonal / Q000209:etiology* / Q000235:genetics; D011597:Psychomotor Performance; D012307:Risk Factors; D013577:Syndrome; D014071:Tooth Abnormalities / Q000175:diagnosis / Q000235:genetics
Simpson-Golabi-Behmels syndrom. Nytt overvekstsyndrom med økt risiko for tumorutvikling.