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Simpson-Golabi-Behmel syndrome

王朝百科·作者佚名  2011-05-24
窄屏简体版  字體: |||超大  

Simpson-Golabi-Behmel syndrome(SGBS), also calledBulldog syndromeorSara Agers Syndrome, is a rare geneticsyndromewith widely variable expression, causing craniofacial and other abnormalities.

It is inherited in an X-linked recessive fashion, meaning that generally only males are affected, but females are carriers.

PresentationAffected individuals typically have pre- or postnatal overgrowth leading to coarse ("bulldog-like") faces with protruding jaw and tongue, widened nasal bridge, and upturned nasal tip. They often are quite tall. Intelligence is usually normal, although mental retardation does occur. They often have abnormalities of the extremities, such as broad, short hands and feet, occasionally with polydactyly. Other abnormalities may include pectus excavatum, ventricular septal defect (or other congenital heart defects), Meckel diverticulum, intestinal malrotation, and congenital diaphragmatic hernia.

People with this syndrome may have an increased risk of tumors, such as neuroblastoma or Wilms tumor.

SGBS is somewhat similar to another overgrowth syndrome called Beckwith-Wiedemann syndrome, probably because both syndromes affect insulin-like growth factor 2 (IGF2).

ReferenceGarganta CL, Bodurtha JN (1992). [Expression error: Missing operand for > "Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature"]. Am J Med Genet 44 (2): 129–135. doi:10.1002/ajmg.1320440202. PMID 1456279.

External linkSimpson-Golabi-Behmel syndrome at NIH's Office of Rare Diseases GeneReview/NCBI/NIH/UW entry on Simpson-Golabi-Behmel Syndrome

 
 
 
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