Omphalocele occurs in 1 / 4, 000 births and is associated with a high rate of mortality ( 25 % ) and severe malformations, such as cardiac anomalies ( 50 % ) and neural tube defect ( 40 % ).
22.
And after Drs Beckwith and Wiedemann described a syndrome of low blood sugar, omphalocele abdominal malformation and macroglossia ( enlarged tongue ), Drs Winter and Curry and colleagues discovered how the syndrome, which had been named Beckwith-Wiedemann Syndrome, could be diagnosed prenatally ( before the baby was born ).
Other entities associated with an imperforate anus are trisomies 18 and 21, the cat-eye syndrome ( partial trisomy or tetrasomy of a maternally derived number 22 chromosome ), Baller-Gerold syndrome, Currarino syndrome, caudal regression syndrome, FG syndrome, Johanson-Blizzard syndrome, McKusick-Kaufman syndrome, Pallister-Hall syndrome, short rib-polydactyly syndrome type 1, Townes-Brocks syndrome, 13q deletion syndrome, urorectal septum malformation sequence, and the OEIS complex ( omphalocele, exstrophy of the cloaca, imperforate anus, spinal defects ).
