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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
- 2007.1
- 수록면
- 174 - 177 (4page)
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초록· 키워드
오류제보하기
Anhidrotic ectodermal dysplasia is a rare genetic disorder characterized by absence or diminished numbers of structures derived from the ectoderm, and it is reported to be inherited as an x-linked recessive trait. It is recognized clinicaly by anhidrosis, hypo-trichosis, anodontia or reduced numbers of teth with deformed shape and characteristic facial features. In addition, otolaryn-gological manifestations include atrophic rhinitis, sensorineural hearing loss, and conductive hearing los and satyr ear, among n be followed to make a reasonable future plans for the pediatric patient. A 2-month-old infant was refered with symptoms of intermittent nasal obstruction and crust formation in both nasal cavities. The nasal endoscope demonstrated atrophic changes of nasal mucosa and radiologic study showed an unerupted conical shaped tooth. The diagnosis of anhidrotic ectodermal dysplasia was confirmed with the finger impresion test that revealed deficiency of sweat pores. We report a case of anhidrotic ectodermal dysplasia with a review of the literature. ;50 :174-7)
목차
등록된 정보가 없습니다.
참고문헌 (20)
참고문헌 신청
/ / A report of two cases. Am. J Dis Child 1929 : 766 ~ 90
/ / An ENT presentation in infancy. J Otolaryngol 1988 : 458 ~ 9
/ / Clouston HR. The major forms of hereditary ectodermal dysplasia. Can Med Asoc J 1939 : 1 ~ 7
/ / Cooper KE. Gene effect in cariers of anhidrotic ectodermal dysplasia. J Med Genet 1966 : 169 ~ 76
/ / Danks DM. Hypohidrotic ectodermal dysplasia. A study of sweat pores in the X-linked form and in a family with probable autosomal recesive inheritance. J Pediatr 1971 : 46
/ / An ENT presentation in infancy. J Otolaryngol 1988 : 458 ~ 9
/ / Clouston HR. The major forms of hereditary ectodermal dysplasia. Can Med Asoc J 1939 : 1 ~ 7
/ / Cooper KE. Gene effect in cariers of anhidrotic ectodermal dysplasia. J Med Genet 1966 : 169 ~ 76
/ / Danks DM. Hypohidrotic ectodermal dysplasia. A study of sweat pores in the X-linked form and in a family with probable autosomal recesive inheritance. J Pediatr 1971 : 46
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