Clinical and Experimental Pediatrics

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Original Article

Byoung Hong Ahn, Song Nyeon Choi, Young Wook Kim, Ki Bok Kim

Clin Exp Pediatr. 1990;33(2):234-240. Published online February 28, 1990

We have experienced a case of Cornelia de Lange syndrome in a 3-year-old boy. The patient showed most of the typical clinical features of the syndrome: microcephaly, bushy eyebrows and synophys, antimongolian slant, small nose and anteverted nostrils, thin protruding lips with downturning of the comer, micrognathia, low set ears, generalized hirsuitism, and growth redardation. The patient also had skeletal abnormalities of hands. Chromosomal...

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