Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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무수정체안을 동반한 Hallermann-Streiff 증후군 1예

A case of Hallermann-Streiff syndrome with aphakia

  • 이명철 (메리놀병원 소아청소년과) ;
  • 최임정 (메리놀병원 소아청소년과) ;
  • 정진화 (메리놀병원 소아청소년과)
  • 투고 : 2007.12.12
  • 심사 : 2008.04.04
  • 발행 : 2008.06.15
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초록

Hallermann-Streiff 증후군은 새 모양의 두개 기형, 치아 이상, 털 감소증, 피부위축, 선천성 백내장, 양측 소안구증, 비례적 왜소증 등의 7가지 특징을 동반한다. 소하악증이나 후두 연화증으로 인한 상기도 폐쇄가 문제가 되며, 이로 인한 수면 무호흡증이나, 호흡기 감염, 폐성심, 섭식 곤란 등이 자주 나타난다. 전 세계적으로도 150례 정도가 보고되어 있는 드문 질환으로써, 이에 저자들이 경험한 무수정체를 동반한 Hallermann-Strieff 증후군 1례를 보고하는 바이다.

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.

키워드

참고문헌

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피인용 문헌

  1. Two Cases of Hallermann-Streiff Syndrome Diagnosed in Early Neonatal Period vol.19, pp.3, 2008, https://doi.org/10.5385/jksn.2012.19.3.146
  2. Hallermann–Streiff syndrome with cutaneous manifestations vol.54, pp.9, 2015, https://doi.org/10.1111/ijd.12172
  3. Pediatric difficult intubation in a rare genetic disorder made easy with Airtraq laryngoscope vol.10, pp.3, 2008, https://doi.org/10.4103/0259-1162.191120
  4. A familial study of Hallermann–Streiff–François syndrome vol.10, pp.None, 2017, https://doi.org/10.2147/imcrj.s114115
  5. Diagnosis, Early Care, and Treatment of Hallermann-Streiff Syndrome: A Review of the Literature vol.50, pp.5, 2008, https://doi.org/10.3928/19382359-20210415-01