Síndrome de Seckel, dos casos en una familia colombiana / Seckel syndrome: report of two cases in a Colombian family
Rev. chil. pediatr
; 81(5): 432-436, oct. 2010. ilus, tab
Article
in Es
| LILACS
| ID: lil-577528
Responsible library:
CL1.1
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.
RESUMEN
El síndrome de Seckel es una enfermedad genética de herencia autosómica recesiva de baja ocurrencia, caracterizado por la asociación de talla baja, retardo mental y facies especial, se han reportado cerca de 10 familias con dos o más miembros afectados. Nosotros reportamos dos hermanas hijas de padres no consanguíneas, la madre presenta labio fisurado bilateral. Se describen las características más importantes del síndrome y se hace una revisión de la literatura.
Key words
Full text:
1
Index:
LILACS
Main subject:
Abnormalities, Multiple
/
Dwarfism
/
Microcephaly
Limits:
Female
/
Humans
/
Newborn
Country/Region as subject:
America do sul
/
Colombia
Language:
Es
Journal:
Rev. chil. pediatr
Journal subject:
PEDIATRIA
Year:
2010
Type:
Article