Article
Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage.
La Tunisie medicale - 1 Aug 2010
Chaouachi Sihem, Ben Hamida Emira, Ennine Ines, Chaabouni Meriem, Sfar Rachida, Chaabouni Habiba, Marrakchi Zahra
Abstract excerpt
AIM: Reppor of a rare congenital abnormalities. OBSERVATION: We report a rare case of Pallister-Killian syndrome in a 33 weeks gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia and sacral appendage. These additional manifestations are not among the Pallister-Killian syndrome's features. The diagnosis was made in antenatal period by cytogenetic...
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