Ellis-van Creveld syndrome with facial hemiatrophy.
Indian J Dermatol Venereol Leprol
;
2010 May-Jun; 76(3): 266-269
Article
Dans Anglais
| IMSEAR
| ID: sea-140611
ABSTRACT
Ellis-van Creveld (EVC) syndrome is a rare autosomal recessive congenital disorder characterized by chondrodysplasia and polydactyly, ectodermal dysplasia and congenital defects of the heart. We present here a case of a 16-year-old short-limbed dwarf with skeletal deformities and bilateral postaxial polydactyly, dysplastic nails and teeth, also having left-sided facial hemiatrophy. The diagnosis of EVC syndrome was made on the basis of clinical and radiological features. To the best of our knowledge, this is the first report of EVC syndrome with facial hemiatrophy in the medical literature from India.
Texte intégral:
Disponible
Indice:
IMSEAR (Asie du Sud-Est)
langue:
Anglais
Texte intégral:
Indian J Dermatol Venereol Leprol
Année:
2010
Type:
Article
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