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Case Report
  |     |   J Korean Soc Neonatol._19_3_146_153.pdf
J Korean Soc Neonatol. August;19(3):146-153.
Published online 2012 December 24   doi: https://doi.org/10.5385/jksn.2012.19.3.146
Copyright ⓒ 2012 The Korean Society of Neonatology Neonatal Medicine
Two Cases of Hallermann-Streiff Syndrome Diagnosed in Early Neonatal Period
Young Earl Choi, M.D., Joon Sik Choi, M.D., Young Nam Kim, M.D., Eun Song Song, M.D., and Young Youn Choi, M.D.
Department of Pediatrics, Collage of Medicine, Chonnam University, Gwangju, Korea
Corresponding Author: Young Youn Choi, M.D., Ph.D. , Tel: +82-62-220-6646 , Fax: +82-62-222-6103 , Email: 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.
Keywords: Hallermann-Streiff syndrome, Congenital cataract, Microphthalmia, Hypotrichosis
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