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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
- 2016.1
- 수록면
- 162 - 167 (6page)
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초록· 키워드
오류제보하기
Axial mesodermal dysplasia complex (AMDC) arises in variable combinations of craniocaudal anomalies such as musculoskeletal deformities, neuroschisis, or rhombencephalic developmental disorders. To the best of our knowledge, the co-existence of AMDC with associated musculoskeletal anomalies, medullary neuroschisis with mirror movements, and cranial nerve anomalies has not yet been reported. Here, we report the case of a 4-year-old boy whose clinical features were suggestive of Goldenhar syndrome and Poland syndrome with Sprengel deformity. Moreover, he showed mirror movements in his hands suspected of rhombencephalic malformation, and infranuclear-type facial nerve palsy of the left side of his face, the opposite side to the facial anomalies of Goldenhar syndrome. After conducting radiological studies, he was diagnosed with medullary neuroschisis without pontine malformations and Klippel-Feil syndrome with rib anomalies. Based on these findings, we propose that clinical AMDC can be accompanied by a wide variety of musculoskeletal defects and variable degrees of central nervous system malformations. Therefore, in addition to detailed physical and neurological examinations, imaging studies should be considered in AMDC.
목차
등록된 정보가 없습니다.
참고문헌 (10)
참고문헌 신청
Stewart FJ / 1993 / Axial mesodermal dysplasia spectrum / Am J Med Genet 45:426~429
Bergmann C / 2003 / Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC) / Am J Med Genet A 121:151~155
Dias MS / 1992 / The embryogenesis of complex dysraphic malformations: a disorder of gastrulation? / Pediatr Neurosurg 18:229~253
Royal SA / 2002 / Investigations into the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel-Feil syndrome / AJNR Am J Neuroradiol 23:724~729
Preis S / 1996 / Goldenhar, Mobius and hypoglossiahypodactyly anomalies in a patient: syndrome or association? / Eur J Pediatr 155:385~389
Bergmann C / 2003 / Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC) / Am J Med Genet A 121:151~155
Dias MS / 1992 / The embryogenesis of complex dysraphic malformations: a disorder of gastrulation? / Pediatr Neurosurg 18:229~253
Royal SA / 2002 / Investigations into the association between cervicomedullary neuroschisis and mirror movements in patients with Klippel-Feil syndrome / AJNR Am J Neuroradiol 23:724~729
Preis S / 1996 / Goldenhar, Mobius and hypoglossiahypodactyly anomalies in a patient: syndrome or association? / Eur J Pediatr 155:385~389
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