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Síndrome de Seckel, Dos Casos en una Familia Colombiana

DOI: 10.4067/S0370-41062010000500007

Keywords: short stature, seckel syndrome, inheritance pattern, mycrocephalia.

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Abstract:

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.

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