A Case of X-linked Dominant Chondrodysplasia Punctata / 대한피부과학회지
Korean Journal of Dermatology
;
: 1294-1297, 2007.
Article
in Korean
| WPRIM
| ID: wpr-68499
ABSTRACT
X-linked dominant chondrodysplasia punctata is a rare congenital disorder characterized by transient punctate epiphyseal calcifications and ichthyotic skin changes, usually resolving during early infancy. We experienced a baby girl born with a thickened and diffusely red integument with adherent scales following the lines of Blaschko and punctata calcification, flat nose. We report a case of condrodysplasia punctata, X-linked dominant type which was confirmed with gene study.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Skin
/
Weights and Measures
/
Nose
/
Chondrodysplasia Punctata
/
Ichthyosis
/
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Limits:
Female
/
Humans
Language:
Korean
Journal:
Korean Journal of Dermatology
Year:
2007
Type:
Article
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