Two Cases of Hallermann-Streiff Syndrome Diagnosed in Early Neonatal Period.

Choi,  Young Earl; Choi,  Joon Sik; Kim,  Young Nam; Song,  Eun Song; Choi,  Young Youn

doi:2012.19.3.146

Neonatal Med > Volume 19(3); 2012 > Article

Case Report

Journal of the Korean Society of Neonatology 2012;19(3):146-153.
DOI: https://doi.org/10.5385/jksn.2012.19.3.146 Published online December 24, 2012.

Two Cases of Hallermann-Streiff Syndrome Diagnosed in Early Neonatal Period.

Young Earl Choi, Joon Sik Choi, Young Nam Kim, Eun Song Song, Young Youn Choi

Department of Pediatrics, Collage of Medicine, Chonnam University, Gwangju, Korea. yychoi@chonnam.ac.kr

Abstract

Hallermann-Streiff syndrome is a very rare congenital disorder, which is primarily characterized by the head and face abnormalities. Approximately 180 cases have been reported worldwide, including 8 cases in Korea since it was first described by Hallermann in 1893. Patients exhibit a bird-like face, hypotrichosis, atrophy of skin, dental abnormalities, proportionate nanism, and various ophthalmic disorders, including congenital cataracts and bilateral micropthalmia. As a result of many life-threatening complications, such as respiratory and cardiac difficulties, many patients die during infancy. We report here two cases of HSS diagnosed immediately after birth with literature reviews. They showed two additional characteristics, including chubby cheeks and antenatal ultrasonographic findings, which have not been mentioned in previous reports.

Key Words: Hallermann-Streiff syndrome; Congenital cataract; Microphthalmia; Hypotrichosis