Ann Dermatol.  1995 Oct;7(4):358-360. 10.5021/ad.1995.7.4.358.

Hypomelia-Hypotrichosis-Facial Hemangioma Syndrome

• Lew W
• Kim DK
• Cho NJ
• Kim YC
• Park HW

• KMID: 2361370
• DOI: http://doi.org/10.5021/ad.1995.7.4.358

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.

Keyword

Hypomelia; Hypotrichosis; Hemangioma

MeSH Terms

Congenital Abnormalities
Elbow Joint
Female
Hair
Hemangioma*
Humans
Hypotrichosis
Lower Extremity
Synostosis
Upper Extremity