Displasia condroectodérmica (Síndrome de Ellis-van Creveld): relato de dois casos / Chondroectodermal dysplasia (Ellis-van Creveld Syndrome): report of two cases
Rev. bras. ortop
;
38(6): 357-361, jun. 2003. ilus
Article
in Portuguese
| LILACS
| ID: lil-360798
ABSTRACT
The authors report two patients with chondroectodermal dysplasia, also called Ellis-van Creveld Syndrome. This rare, inherited disease of autossomal-recessive trait was diagnosed in two brothers. Both presented clinically with dwarfism, postaxial hand polydactyly, fingernail dysplasia, shortened limbs, heart and teeth problems, and other associated deformities. One of the children evolved to death from cardiac arrest, and the other is sound at 5 years of age. The main purpose of the orthopedic approach in this syndrome is to improve the function and appearance of affected hands.
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Index:
LILACS (Americas)
Main subject:
Ellis-Van Creveld Syndrome
Limits:
Child, preschool
/
Female
/
Humans
/
Male
/
Infant, Newborn
Language:
Portuguese
Journal:
Rev. bras. ortop
Journal subject:
Orthopedics
Year:
2003
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Instituto de Ortopedia e Traumatologia/BR
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