Síndrome de Ellis Van Creveld: caso clínico / Ellis Van Creveld syndrome: case report
Acta odontol. venez
; 52(1)2014. ilus
Article
in Spanish
| LILACS
| ID: lil-777807
Responsible library:
VE1.1
RESUMEN
El Síndrome de Ellis Van Creveld es poco frecuente, hereditario de carácter autosómico recesivo no habiendo predilección por sexo. Se caracteriza por acortamiento acromesomélico, polidactilia postaxial bilateral de manos, condrodisplasia de huesos largos y displasia ectodérmica de uñas y dientes. El conocimiento de la misma es imperativo para un diagnóstico temprano y manejo multidisciplinario oportuno que permita una mejor calidad de vida de estos pacientes.
ABSTRACT
The Ellis Van Creveld syndrome is rare, hereditary autosomal recessive, without no sex predilection. It is characterized by short-limbed dwarfism, bilateral postaxial hand polydactyl, chondrodysplasia of long bones and ectodermic dysplasia affecting fingernails and teeth. The knowledge of it is essential for early diagnosis and appropriate multidisciplinary management that allows a better quality of life for these patients.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Ellis-Van Creveld Syndrome
/
Dwarfism
/
Genes, Recessive
Type of study:
Screening study
Aspects:
Patient-preference
Limits:
Child
/
Child, preschool
/
Female
/
Humans
Language:
Spanish
Journal:
Acta odontol. venez
Journal subject:
Medicina Bucal
/
Dentistry
/
Sa£de Bucal
Year:
2014
Document type:
Article
Affiliation country:
Argentina
Institution/Affiliation country:
Universidad Nacional del Nordeste/AR