Fraser-cryptophthalmos syndrome with colonic atresia

Indian J Pediatr. 2008 Feb;75(2):189-91. doi: 10.1007/s12098-008-0030-9.

Abstract

Fraser cryptophthalmos syndrome is a severe genetic disorder comprising of cryptophthalmos, syndactyly and genitourinary abnormalities. Gastrointestinal malformations are also increasingly being described. We describe a neonate with this syndrome having colonic atresia leading to cecal rupture and pneumoperitoneum.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / surgery
  • Colon / abnormalities*
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / surgery
  • Eye Abnormalities / diagnosis*
  • Humans
  • Hypospadias / diagnosis
  • Infant, Newborn
  • Intestinal Atresia / diagnosis*
  • Intestinal Atresia / surgery
  • Limb Deformities, Congenital / diagnosis*
  • Limb Deformities, Congenital / surgery
  • Male
  • Syndactyly / diagnosis
  • Syndrome
  • Treatment Outcome