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Tunis Med. 2010 Aug;88(8):614-6.

Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage.

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  • 1Service de Néonatologie--Hôpital Charles Nicolle, Tunisia.



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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