Resumo

PACHAJOA, Harry; SALDARRIAGA, Wilmar  e  ISAZA, Carolina. 18p-syndrome: Presentation of two cases with alobar holoprosencenphaly. Colomb. Med. [online]. 2010, vol.41, n.4, pp.367-372. ISSN 1657-9534.

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.

Palavras-chave : Syndrome by deletion of short arm of chromosome 18; (18p-) syndrome; Alobar holoprosencephaly.

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