Síndrome de ectrodactilia, displasia ectodérmica y fisura de labio/paladar, informe de un caso con expresividad variable / Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity
Arch. argent. pediatr
;
110(5): e95-e98, oct. 2012. ilus
Article
in Spanish
| LILACS
| ID: lil-657482
RESUMEN
El síndrome ectrodactilia, displasia ectodérmica y fisura de labio/paladar es una entidad poco frecuente, asociada a la mutación de genes que codifican la proteína p63. Presentamos un caso de un paciente con ectrodactilia en el pie derecho asociada a labio y paladar fisurados, sin otras alteraciones evidentes, con antecedente familiar de labio con paladar fisurado y muerte en el período perinatal. El manejo de cada caso de este síndrome debe ser específico y multidisciplinario.
ABSTRACT
The ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome is a rare entity associated with mutations in the genes that express the protein p63. We present a case of a patient with right foot ectrodactyly associated with cleft lip and palate, without other evident anomalies. The patient has a positive familiar history for cleft lift and palate and mortality during the perinatal period. The management of each case must be specific and multidisciplinary.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Ectodermal Dysplasia
/
Cleft Lip
/
Cleft Palate
/
Limb Deformities, Congenital
Limits:
Humans
/
Male
/
Infant, Newborn
Language:
Spanish
Journal:
Arch. argent. pediatr
Journal subject:
Pediatrics
Year:
2012
Type:
Article
Affiliation country:
Colombia
Institution/Affiliation country:
Universidad Icesi/CO
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