Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage
Chaouachi, S.; Ben Hamida, E.; Ennine, I.; Chaabouni, M.; Sfar, R.; Chaabouni, H.; Marrakchi, Z.
La Tunisie Medicale 88(8): 614-616
2010
ISSN/ISBN: 0041-4131 PMID: 20711972 Document Number: 645029
Reppor of a rare congenital abnormalities. 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 studies and showed mosaic 47, XY+i (12p). Presence of diaphragmatic hernia makes this syndrome, prenatally letal, similar to the Fryns syndrome and then requires skin biopsy and fibroblast chromosome examination for cytogenetic diagnosis.
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