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Simpson-Golabi-Behmel syndrome
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(Simpson dysmorphism, Golabi-Rosen syndrome)
Very rare: < 1/1.000.000. X-linked transmission
type 1: (on Xq26). Exaggerated viscera growth pre- and postnatal visceral growth, associated with facial dysmorphism and various visceral or skeletal malformations. Due to a defect of the GPC 3 gene which codes for glypican, which controls the growth of the organs of mesodermal origin. Phenotypically close to Beckwitt-Wiedemann syndrome: hypotonia, macroglossia, hyperinsulinism, risk of nephroblastoma. But also: macrocephaly with thick features (short and broad nose, hypertelorism), cardiac defects (30%: malformation or conduction disorders), short neck, retrognathism or prominent mandible, costal anomalies, hepatosplenomegaly, inguinal and umbilical hernias, supernumerary nipples. Large hands and feet, syndactyly. A case of anterior laryngeal web has been reported. Significant mortality in perinatal and early childhood due to the cardiac anomalies. Malformations of the palate (from bifid uvula to cleft palate), sometimes laryngeal diastema. Swallowing disorders.
type 2: (on Xp22). Fetoplacental anasarca, generally lethal.
Anesthetic implications:
risk of difficult intubation. Laryngeal anomalies.
References :
- Agarwal M, Sharma R, Panda A, Gupta A.
Laryngeal web associated with Simpson-Golabi-Behmel syndrome in a child.
Anaesthesia and Intensive Care 2009; 37 ; 671-2.
Updated: September 2018