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논문 리스트

2012
조기 신생아기에 진단된 Hallermann-Streiff 증후군 2례 Two Cases of Hallermann-Streiff Syndrome Diagnosed in Early Neonatal Period
대한신생아학회
논문정보
Publisher
대한신생아학회지
Issue Date
2012-08-31
Keywords
-
Citation
-
Source
-
Journal Title
-
Volume
19
Number
3
Start Page
146
End Page
153
DOI
ISSN
12261513
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.

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