18p- syndrome: Presentation of two cases with alobar holoprosencenphaly
Abstract
Introduction: The syndrome by deletion of the short arm of chromosome 18 is an infrequent syndrome, and its phenotypical variability makes it difficult to recognize. Its most frequently observed clinical characteristics include mental retardation, growth retardation, craniofacial malformations, including long ears, microcephaly and short neck; other less frequent associated malformations include holoprosencephaly. Case report: We present two patients with deletion of the short arm of chromosome 18, one presented a de novo mutation and the other was produced by a balanced translocation 6p/18p of maternal origin. Both patients presented alobar holoprosencephaly and cebocephaly, low-frequency clinical characteristics in this syndrome. Discussion: alobar holoprosencephaly is a malformation appearing in 10% of patients with deletion of the short arm of chromosome 18; we review the probable physiopathology of holoprosencephaly in this syndrome.Authors
Downloads
Download data is not yet available.
Published
2011-01-26
Submitted
2011-01-26
|
917 |
How to Cite
Pachajoa, H., Saldarriaga, W., & Isaza, C. (2011). 18p- syndrome: Presentation of two cases with alobar holoprosencenphaly. Colombia Médica, 41(4), 367-372. https://doi.org/10.25100/cm.v41i4.729
Issue
Section
Case Report
The copy rights of the articles published in Colombia Médica belong to the Universidad del Valle. The contents of the articles that appear in the Journal are exclusively the responsibility of the authors and do not necessarily reflect the opinions of the Editorial Committee of the Journal. It is allowed to reproduce the material published in Colombia Médica without prior authorization for non-commercial use
