| Pallister-Killian syndrome with additional manifestations of cleft palate and sacral appendage. | |
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MedLine Citation:
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PMID: 20711972 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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Sihem Chaouachi; Emira Ben Hamida; Ines Ennine; Meriem Chaabouni; Rachida Sfar; Habiba Chaabouni; Zahra Marrakchi |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: La Tunisie médicale Volume: 88 ISSN: 0041-4131 ISO Abbreviation: Tunis Med Publication Date: 2010 Aug |
Date Detail:
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Created Date: 2010-08-16 Completed Date: 2010-10-25 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0413766 Medline TA: Tunis Med Country: Tunisia |
Other Details:
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Languages: eng Pagination: 614-6 Citation Subset: IM |
Affiliation:
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Service de Néonatologie--Hôpital Charles Nicolle, Tunisia. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Apgar Score Chromosome Aberrations* Cleft Palate / genetics* Fatal Outcome Hernia, Diaphragmatic / congenital* Humans Infant, Newborn Infant, Premature Infant, Premature, Diseases / genetics* Karyotyping Male Mosaicism Phenotype Sacrum / abnormalities* Syndrome |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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