지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 94 - 97 (4page)
이용수
초록· 키워드
오류제보하기
Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-likeplates of skin that cover the entire body. This disease is caused by mutations in the adenosine triphosphate-bindingcassette transporter protein A12 gene, and the pattern of inheritance is autosomal recessive. Prenatal sonographicdiagnosis of HI has not been frequently reported. Here, we report a case of HI detected at 28 weeks of gestationand discuss with the sonographic findings and a brief review of literature. The diagnosis was reached mainly basedon 2-dimensional and 3-dimensional ultrasound findings. Three-dimensional ultrasound applications help recognizefacial morphology, and thus, greatly contributes to prenatal diagnoses.
목차
등록된 정보가 없습니다.
참고문헌 (16)
참고문헌 신청
Oji V / 2010 / Revised nomenclature and classification of inherited ichthyoses : results of the First Ichthyosis Consensus Conference in Sorèze 2009 / J Am Acad Dermatol 63:607~641
Shibata A / 2015 / Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan / Pediatr Int 57:516~522
Plocoste V / 1992 / The Harlequin Baby syndrome. A new case / J Gynecol Obstet Biol Reprod (Paris) 21:247~250
Basgul AY / 2011 / Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D, and 4D ultrasonography / Clin Exp Obstet Gynecol 38:283~285
Akiyama M / 1999 / The pathogenesis of severe congenital ichthyosis of the neonate / J Dermatol Sci 21:96~104
Shibata A / 2015 / Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan / Pediatr Int 57:516~522
Plocoste V / 1992 / The Harlequin Baby syndrome. A new case / J Gynecol Obstet Biol Reprod (Paris) 21:247~250
Basgul AY / 2011 / Prenatal diagnosis of congenital harlequin ichthyosis with 2D, 3D, and 4D ultrasonography / Clin Exp Obstet Gynecol 38:283~285
Akiyama M / 1999 / The pathogenesis of severe congenital ichthyosis of the neonate / J Dermatol Sci 21:96~104
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