Síndrome de Seckel, Dos Casos en una Familia Colombiana
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 p...
- Autores:
-
Pachajoa Londoño, Harry Mauricio
Isaza, Carolina
Saldarriaga, Wilmar
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2010
- Institución:
- Universidad ICESI
- Repositorio:
- Repositorio ICESI
- Idioma:
- spa
- OAI Identifier:
- oai:repository.icesi.edu.co:10906/81247
- Acceso en línea:
- https://doi.org/10.4067/S0370-41062010000500007
http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0370-41062010000500007&lng=en&nrm=iso&tlng=en
http://www.scielo.cl/pdf/rcp/v81n5/art07.pdf
http://hdl.handle.net/10906/81247
- Palabra clave:
- Enfermedades congénitas
Microcefalia
Enanismo
Labio fisurado
Síndrome
- Rights
- openAccess
- License
- https://creativecommons.org/licenses/by-nc-nd/4.0/
| Summary: | 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. |
|---|