Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage.
OBJECTIVE
Reppor of a rare congenital abnormalities.


METHODS
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.
Chaouachi
Sihem
S
Service de Néonatologie--Hôpital Charles Nicolle, Tunisia.
Ben Hamida
Emira
E
Ennine
Ines
I
Chaabouni
Meriem
M
Sfar
Rachida
R
Chaabouni
Habiba
H
Marrakchi
Zahra
Z
D000015:Abnormalities, Multiple / Q000235:genetics*; D001034:Apgar Score; D002869:Chromosome Aberrations; D002972:Cleft Palate / Q000235:genetics*; D017809:Fatal Outcome; D065630:Hernias, Diaphragmatic, Congenital; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D012447:Sacrum / Q000002:abnormalities*; D013577:Syndrome