Cornelia de Lange’s syndrome is an occasional familial syndrome characterized by severe mental retardation, peculiar facies (low hairline, heavy confluent eyebrows, small upturned nose, micrognathia, wide and down-turned upper lip), delayed skeletal maturation, and small hands and feet. Cutaneous syndactyly of the feet, proximal insertion of the thumbs, and clinodactyly are often present. In severe cases, any of the upper extremity bones can be absent. The elbows present flexion deformities or contractures with or without luxation. Hiatus hernia, intestinal malrotation, eye anomalies, cryptorchism, hypospadias, congenital heart disease, hirsutism, and cutis marmorata are other features which have been mentioned.
KeywordsCongenital Heart Disease Hiatus Hernia Intestinal Malrotation High Arched Palate Pectus Carinatum
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