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Revista chilena de pediatría

versión impresa ISSN 0370-4106


PACHAJOA, HARRY; SALDARRIAGA, WILMAR  y  ISAZA, CAROLINA. Syndrome. Report of Two Cases in a Colombian Family. Rev. chil. pediatr. [online]. 2010, vol.81, n.5, pp. 432-436. ISSN 0370-4106.

Seckel syndrome is an infrequent autosomic recessive genetic disorder. It is characterized by short stature, mental retardation and a typical facies. Nearly 10 families have been reported with two or more affected members.This paper reports two sisters, daughters of non-related parents. The mother presented bilateral fissurate lip. The main traits of this syndrome are highlighted through a literature review.

Palabras clave : Short stature; Seckel syndrome; inheritance pattern; mycrocephalia.

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