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  • A rare chromosomal anomaly syndrome with a highly variable phenotype. Principle characteristics are intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.
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