Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome.
10.5021/ad.1995.7.4.358
- Author:
Wook LEW
;
Dong Kun KIM
;
Nam Joon CHO
;
You Chan KIM
;
Hui Wan PARK
- Publication Type:Case Report
- Keywords:
Hypomelia;
Hypotrichosis;
Hemangioma
- MeSH:
Congenital Abnormalities;
Elbow Joint;
Female;
Hair;
Hemangioma*;
Humans;
Hypotrichosis;
Lower Extremity;
Synostosis;
Upper Extremity
- From:Annals of Dermatology
1995;7(4):358-360
- CountryRepublic of Korea
- Language:English
-
Abstract:
We report a mild variant of hypomelia-hypotrichosis-facial hemangioma syndrome in a 3 month-old female. The patient showed major features of the previously reported cases including flexion deformities of both upper extremities, sparse light colored hair, mid-facial hemangioma and a characteristic facial appearance. Roentgenogram showed radio-humeral synostosis at both elbow joints by which shortening of upper limbs could be anticipated. However, intra- and extrauterine growth retardation were not remarkable and the lower limbs were not affected.
