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_ TABLE 37-1 Common Congenital
Malformations in Infants with Omphalocele
and a Normal Karyotype

Central nervous system
• Spinal defects
• Anencephaly
• CraniosynostosisCardiovascular system
• Ventricular septal defect
• Atrial septal defect
• Tetralogy of Fallot
• Coarctation of aorta
• Persistent pulmonary hypertension of

Genitourinary system
• Renalagenesis
• Hypospadias

• Skeletal dysplasia
• Arthrogryposis
• Diaphragmatic hernia
• Cystic hygroma

_ TABLE 37-2 Syndromes Associated with Omphalocele
Syndrome Other Common ClinicalFeatures Etiology
Beckwith-Wiedemann Macroglossia, linear fissure in ear lobule, Sporadic, BWS gene
syndrome (BWS) visceromegaly, neonatal hypoglycemia, at 11p15.5
hemihypertrophy, cryptorchidismCarpenter syndrome Brachycephaly, hypoplastic maxilla/mandible, Autosomal recessive
corneal opacity, syndactyly, camptodactyly,
cardiac defects, cryptorchidism, postaxial

CHARGEassociation Colobomas, heart defects, atresia of choanae, Autosomal dominant
retarded growth and development, genital
anomalies, ear anomalies
Cloacal exstrophy Persistence of cloaca, omphalocele,hydromyelia, Unknown
sequence cryptorchidism, pelvic kidneys, multicystic

Fibrochondrogenesis Short stature, megalocornea, hypoplastic nose, Autosomal recessive
cleft palate, vertebralhypoplasia, rhizomelic
shortening of limbs, hypoplastic nails

Fryns syndrome Diaphragmatic defects, distal digital hypoplasia, Autosomal recessive
pulmonary hypoplasia, Dandy-Walker
malformation,agenesis of corpus callosum,
Meckel-Gruber Occipital encephalocele, polydactyly, cleft lip Autosomal recessive
syndrome and/or palate, microphthalmia, ambiguous
genitalia, IUGR, microcephaly,cryptorchidism,
cardiac defects
OEIS complex Omphalocele, exstrophy of bladder, imperforate Unknown
anus, spinal defects
Pentalogy of cantrell Defects in the closing of the supraumbilical...
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