A Case of Trichorhinophalangeal Syndrome / 대한피부과학회지
Korean Journal of Dermatology
;
: 920-925, 1994.
Article
in Korean
| WPRIM
| ID: wpr-96748
ABSTRACT
Trichorhinophalangeal syndiome, a rare genetic disease, is characterzed by the triad of slow growing, brittle hair with early loss, a pear-shaped nose with bulbous tip and long philtrum, and coneshaped phalangeal epiphyses wiith resultant shortening and. deformity of hands and feet. A 24-year-old female visited our department for the evaluation of lalopecia. She had had sparse, thin, and brittle hair since birth. She also complained of short fingers ar d a pear-shaped nose with bulbous tip. The X-ray findings of her hands and feet showed cone-shaped epiphyses with shortening of the phalangeal bones. There was no family history of hair, nasal, or palnkoplantar phalangeal abnormality. Chromosomal study did not reveel any abnormal finding. Shortened phalangeal bones of her index and middle fingers were slightly improved by lengthening procedure with iIlizarov apparatus.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Congenital Abnormalities
/
Nose
/
Parturition
/
Epiphyses
/
Fingers
/
Foot
/
Hair
/
Hand
/
Lip
Limits:
Female
/
Humans
Language:
Korean
Journal:
Korean Journal of Dermatology
Year:
1994
Type:
Article
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