Fraser-cryptophthalmos syndrome with colonic atresia.
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.
Narang
Manish
M
Department of Pediatrics, University College of Medical Sciences and Guru Tegh Bahadur Hospital, Dilshad Garden, Delhi, India.
Kumar
Manish
M
Shah
Dheeraj
D
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D003106:Colon / Q000002:abnormalities*; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000601:surgery; D005124:Eye Abnormalities / Q000175:diagnosis*; D006801:Humans; D007021:Hypospadias / Q000175:diagnosis; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000175:diagnosis* / Q000601:surgery; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000601:surgery; D008297:Male; D013576:Syndactyly / Q000175:diagnosis; D013577:Syndrome; D016896:Treatment Outcome