A case of Hallermann-Streiff syndrome with aphakia.
10.3345/kjp.2008.51.6.646
- Author:
Myung Chul LEE
1
;
Im Jeong CHOI
;
Jin Wha JUNG
Author Information
1. Department of Pediatrics, Maryknoll Medical Center, Busan, Korea. whiteij@hanmail.net
- Publication Type:Case Report
- Keywords:
Hallermann-Streiff syndrome;
Aphakia;
Bird-like face
- MeSH:
Aphakia;
Atrophy;
Child;
Dwarfism;
Female;
Hallermann's Syndrome;
Humans;
Hypotrichosis;
Korea;
Microphthalmos;
Rare Diseases;
Skin
- From:Korean Journal of Pediatrics
2008;51(6):646-649
- CountryRepublic of Korea
- Language:English
-
Abstract:
Hallermann-Streiff syndrome is a rare disease. Approximately 150 cases have been reported, including 6 cases in Korea. The authors experienced a case of Hallermann-Streiff syndrome in a 6-year-old female with aphakia. The syndrome is characterized by a bird-like face, dental abnormalities, hypotrichosis, atrophy of the skin, bilateral microphthalmia, and proportionate dwarfism. A brief review of the literature was conducted.