Tag

chromosome 5p13.2 deletion

18
Mar

5p13.2 Deletion (Cornelia de Lange Syndrome)

5p13.2 Deletion (Cornelia de Lange Syndrome) Cornelia de Lange syndrome (CdLS) is a well-known disorder. In typical cases this condition is characterized by severe prenatal hypoplasia (and postnatal growth delay), microcephaly, facial dysmorphism and multiple abnormalities of the extremities. The most common internal defects are diaphragmatic hernia and intestinal malrotation....
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