Congenital anomalies are commonly associated with exomphalos minor.
OBJECTIVE
The objective of this study is to define the incidence of chromosomal and congenital anomalies in neonates with exomphalos major and minor.


BACKGROUND
Incidence of major congenital anomalies varies from 35% to 81% in exomphalos. It is unclear whether these malformations are more common with exomphalos major.


METHODS
The case notes of 82 antenatal diagnoses of exomphalos, made between January 1998 and December 2004, were retrospectively reviewed. Exomphalos major was defined as a defect 5 cm or greater and exomphalos minor a defect less than 5 cm in diameter.


RESULTS
There were 72 live births, 6 still births, and 4 terminations of pregnancy. There was no statistical significance between exomphalos major and minor regarding mode of delivery, gestational age at birth, birth weight, major cardiac anomalies (21% vs 23%), and renal and external genitalia abnormalities (11% vs 18%). Chromosomal anomalies, syndromes, and dysmorphism were common in exomphalos minor 17 (39%, P = .0001). Congenital malformations of the gastrointestinal tract (14% vs 27%), central nervous system (0 vs 21%), and Wilms' tumor (0 vs 5%) occurred commonly in exomphalos minor. Limb abnormalities (25% vs 5%), ectopia cordis (11% vs 0), and bladder exstrophy (7% vs 0) occurred predominantly in exomphalos major. Mean follow-up was 34 months. Three neonates with exomphalos major died. Overall mortality was 4%.


CONCLUSIONS
Chromosomal anomalies and syndromes occur more commonly in exomphalos minor. Exomphalos minor and major seem to have a predilection for associated anomalies of specific organ systems. This predisposition may help in counseling parents, planning investigations, and organization of multidisciplinary management strategy.
Department of Paediatric Surgery, Cambridge University Hospitals NHS Foundation Trust, Addenbrooke's Hospital, CB2 2QQ Cambridge, UK.
Ruth
R
Groves
Laxmi
L
Sunderajan
Abdul Rauf
AR
Khan
Dakshesh
D
Parikh
Jeffrey
J
Brain
Madan
M
Samuel
D000015:Abnormalities, Multiple / Q000453:epidemiology*; D025063:Chromosome Disorders / Q000453:epidemiology*; D005260:Female; D006554:Hernia, Umbilical / Q000453:epidemiology* / Q000473:pathology*; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies