J Korean Soc Neonatol.
2012 Aug;19(3):146-153. 10.5385/jksn.2012.19.3.146.
Two Cases of Hallermann-Streiff Syndrome Diagnosed in Early Neonatal Period
- Affiliations
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- 1Department of Pediatrics, Collage of Medicine, Chonnam University, Gwangju, Korea. yychoi@chonnam.ac.kr
- KMID: 2188354
- DOI: http://doi.org/10.5385/jksn.2012.19.3.146
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.
