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

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Published Aug 6, 2010
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Vol. 88 No. 8 (2010): Issue Aug 2010

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Sihem Chaouachi
Emira Ben Hamida
Ines Ennine
Meriem Chaabouni
Rachida Sfar
Habiba Chaabouni
Zahra Marrakchi

Abstract

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 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.

Keywords:

Pallister-Killian syndrome, Fryns syndrome, diaphragmatic hernia, isochromosome 12p mosaicism, cleft palate, sacral appendage,

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References

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