All issues > Volume 51(6); 2008

Case Report

Korean J Pediatr. 2008;51(6):646-649. Published online June 15, 2008.

A case of Hallermann-Streiff syndrome with aphakia

Myung Chul MC Lee¹, Im Jeong IJ Choi¹, Jin Wha JW Jung¹

¹Department of Pediatrics, Maryknoll Medical Center, Busan, Korea

Correspondence Im Jeong IJ Choi ,Email: whiteij@hanmail.net

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.

Keywords :Hallermann-Streiff syndrome, Aphakia, Bird-like face