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. http://dx.doi.org/10.4067/S0370-41062010000500007.
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.