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- W2324255562 abstract "Cornelia de Lange Syndrome and Congenital Umbilical Hernia Cornelia de Lange syndrome, also known as Brachmann-de Lange syndrome, is a genetic disorder present from birth. This syndrome likely affects 1 in 10,000 to 50,000 newborns. CDLS is an inherited condition caused by one of several possible abnormalities in the genes. Mutations in the NIPBL, SMC1A, and SMC3 genes can cause Cornelia de Lange syndrome. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Additional signs and symptoms of Cornelia de Lange syndrome can include excessive body hair (hirsutism), microcephaly, hearing loss, short stature, and soruns with the digestive tract. Seizures, heart defects, eye soruns, skeletal abnormalities and behavior soruns also have been reported in people with this condition. This is the first case in our knowledge Cornelia de Lange syndrome assosicated with congenital umbilical hernia." @default.
- W2324255562 created "2016-06-24" @default.
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- W2324255562 date "2013-09-26" @default.
- W2324255562 modified "2023-10-16" @default.
- W2324255562 title "Cornelia de Lange Syndrome and Congenital Umbilical Hernia" @default.
- W2324255562 doi "https://doi.org/10.5222/j.child.2013.040" @default.
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