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

AbstractAIM:
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.
AuthorsSihem Chaouachi, Emira Ben Hamida, Ines Ennine, Meriem Chaabouni, Rachida Sfar, Habiba Chaabouni, Zahra Marrakchi
JournalLa Tunisie meĢdicale (Tunis Med) Vol. 88 Issue 8 Pg. 614-6 (Aug 2010) ISSN: 0041-4131 [Print] Tunisia
PMID20711972 (Publication Type: Case Reports, Journal Article)
Topics
  • Abnormalities, Multiple (genetics)
  • Apgar Score
  • Chromosome Aberrations
  • Cleft Palate (genetics)
  • Fatal Outcome
  • Hernias, Diaphragmatic, Congenital
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Infant, Premature, Diseases (genetics)
  • Karyotyping
  • Male
  • Mosaicism
  • Phenotype
  • Sacrum (abnormalities)
  • Syndrome

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