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발달 장애를 동반한 Schinzel-Giedion 증후군-증례보고-

Schinzel-Giedion Syndrome and Psychomotor Retardation-A case report-

김세주|김귀상|윤준식|심규훈
대한재활의학회 (Korean Academy Of Rehabilitation Medicine)|2004.08|Annals of Rehabilitation Medicine|제28권 제4호|pp. 379-382

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참고문헌

주제분류재활의학

초록

Abstract

We reported a girl diagnosed Schinzel-Giedion syndrome with severe psychomotor retardation and malformation that was characterized by mid face retraction, scoliosis, skull anomaly, wide cranial fontanels, brain cortical atropy, atrial septal defect, and hydronephrosis. Urinary tract infection, respiratory tract infection, and seizure were common. The neurodevelopment therapy was not effective and developmental stage was not improved. Spasticity was the only findings which was improved.

참고문헌 (10)

  1. "Schinzel-Giedion syndrome", 27, pp.42~47 (1990)
  2. "A further case of a new syndrome including midface retraction,hypertrichosis,and skeletal anomalies", 16, pp.483~486 (1979)
  3. "Schizel-Giedion syndrome:", 25, pp.294~298 (2003)
  4. "Further clinical and sensorial delineation of Schinzel-Giedion syndrome", 109, pp.211~217 (2002)
  5. "New findings of Schinzel-Giedion syndrome:A case with a malignant sacrococcygeal teratoma", 47, pp.852~856 (1993)
  6. "Schinzel-Giedion syndrome:Autopsy report and additional clinical manifestation", 53, pp.374~377 (1994)
  7. "Schinzel- Giedion syndrome:Evidence for a neurogenerative process", 82, pp.344~347 (1999)
  8. "A syndrome of severe midface retraction,multiple skull anomalies,clubfeet and cardiac and renal malformations in sibs", 1, pp.361~375 (1978)
  9. "A case of Schinzel-Giedion syndrome complicated with progressive severe gingival hyperplasia and progressive brain atrophy", 43, pp.181~184 (2001)
  10. "Schinzel-Giedion syndrome", 8, pp.237~241 (2001)

관련 논문AI추천

Schinzel-Giedion 증후군 1례김순겸, 유기환, 이주원, 임형은, 정민지, 홍영숙대한소아신장학회 · Childhood Kidney Diseases2004 · 제8권 제1호발달지연을 동반한 뇌량 무형성증 1례 -증례 보고-신동훈, 신희석, 윤철호, 이은신, 조진홍대한재활의학회 · Annals of Rehabilitation Medicine2003 · 제27권 제6호The First Korean Case of De Novo Proximal 4p Deletion Syndrome in a Child With Developmental DelayByung Ryul Jeon, Chang-Seok Ki, Mi-Ae Jang, Soyoung Park, You Kyoung Lee대한진단검사의학회 · Annals of Laboratory Medicine2020 · 제40권 제5호A Case of Schinzel-Giedion Syndrome박경희, 변신연, 황상현대한신생아학회 · Neonatal medicine2013 · 제20권 제1호First Korean Case of SATB2-Associated 2q32-q33 Microdeletion Syndrome신새암, 이경아, Nae Yu대한진단검사의학회 · Annals of Laboratory Medicine2015 · 제35권 제2호정신운동발달지연을 동반한 염색체이상외 다발성기형질환 9예문한구, 박용훈, 하정옥영남대학교 의과대학 · Journal of Yeungnam Medical Science1986 · 제3권 제1호

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