A Case of Rhizomelic Chondrodysplasia Punctata
Journal of the Korean Pediatric Society
;
: 1312-1316, 1994.
Artículo
en Coreano
| WPRIM
| ID: wpr-68624
ABSTRACT
Chondrodysplasia punctata is a rare congenital disorder of bone, occuring in infants, which is characterized by radiographic manifestation of premature deposition of punctate calcific densitiy in epiphyseal areas, preformed in cartilage. We experienced a case of rhizomelic type-chondrodysplsia punctata in a two day old female who showed short stature, symmetric shortening of proximal limbs, cataract, icthyositic skin lesion and characteristic coronal clefts in lumbar vertebral bodies on X-ray.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Piel
/
Catarata
/
Cartílago
/
Condrodisplasia Punctata
/
Condrodisplasia Punctata Rizomélica
/
Extremidades
/
Enfermedades y Anomalías Neonatales Congénitas y Hereditarias
Límite:
Femenino
/
Humanos
/
Lactante
Idioma:
Coreano
Revista:
Journal of the Korean Pediatric Society
Año:
1994
Tipo del documento:
Artículo
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