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
- 2012.3
- 수록면
- 31 - 35 (5page)
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초록· 키워드
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Noonan syndrome is characterized by short stature, typical facial dysmorphology, and congenital heart defects. The main facial features of Noonan syndrome are hypertelorism with down-slanting palpebral fissures, ptosis, and low-set posteriorly-rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hypertrophic cardiomyopathy. Other associated features are webbed neck, chest deformity, mild intellectual deficit, cryptorchidism, poor feeding in infancy, bleeding tendency, and lymphatic dysplasias. The patient is a 10-year-old boy. He had experienced repeated febrile convulsions. He had typical facial features, a short stature, chest deformity, cryptorchidism, vesicoureteral reflux, and mental retardation. His language and motor development were delayed. When he went to school, it was difficult for him to pay attention, follow directions, and organize tasks. He also displayed behavior such as squirming, leaving his seat in class, and running around inappropriately. Clinical observation is important for the diagnosis, so we report a patient who was diagnosed with Noonan syndrome, mental retardation, and attention-deficit hyperactivity disorder.
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서론
증례
고찰
References
참고문헌 (27)
참고문헌 신청
Noonan JA / 1963 / Associated noncardiac malformation in children with congenital heart disease / J Pediatr 63:468
Opitz JM / 1965 / Noonan’s syndrome in girls: a genocopy of the Ullrich-Turner syndrome / J Pediatr 67:968
Allanson JE / 1987 / Noonan syndrome / J Med Genet 24:9~13
Jamieson CR / 1994 / Mapping a gene for Noonan syndrome to the long arm of chromosome 12 / Nat Genet 8:357~360
Tartaglia M / 2001 / Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome / Nat Genet 29:465~468
Opitz JM / 1965 / Noonan’s syndrome in girls: a genocopy of the Ullrich-Turner syndrome / J Pediatr 67:968
Allanson JE / 1987 / Noonan syndrome / J Med Genet 24:9~13
Jamieson CR / 1994 / Mapping a gene for Noonan syndrome to the long arm of chromosome 12 / Nat Genet 8:357~360
Tartaglia M / 2001 / Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome / Nat Genet 29:465~468
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UCI(KEPA) : I410-ECN-0101-2014-516-000733653