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锁骨颅骨发育不全症(CCD)致新生儿呼吸窘迫综合征:一例报告

Cleidocranial dysplasia (CCD) causing respiratory distress syndrome in a newborn infant. A case report.

作者信息

Ringe Kristina Imeen, Schirg Eckart, Galanski Michael

机构信息

Department of Radiology, Hannover Medical School, Hannover, Germany.

出版信息

J Radiol Case Rep. 2010;4(4):9-12. doi: 10.3941/jrcr.v4i4.396. Epub 2010 Apr 1.

Abstract

Cleidocranial dysplasia (CCD), also known as Scheuthauer Marie-Sainton Syndrome, is a rare autosomal dominant inherited disorder, characterized by general retardation in bone ossification, hypoplastic clavicles and various craniofacial and dental abnormalities. Early diagnosis of CCD can be difficult, because the majority of craniofacial abnormalities become obvious only during adolescence. We present a rare case of CCD with neonatal manifestation and would like to promote the awareness of this rare disorder and the importance of early diagnosis.

摘要

锁骨颅骨发育不全(CCD),也称为朔陶尔·玛丽-桑通综合征,是一种罕见的常染色体显性遗传性疾病,其特征为骨化普遍迟缓、锁骨发育不全以及各种颅面和牙齿异常。CCD的早期诊断可能具有挑战性,因为大多数颅面异常仅在青春期才变得明显。我们报告了1例罕见的新生儿期表现的CCD病例,旨在提高对这种罕见疾病的认识以及早期诊断的重要性。

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本文引用的文献

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A natural history of cleidocranial dysplasia.锁骨颅骨发育不全的自然病史。
Am J Med Genet. 2001 Nov 15;104(1):1-6. doi: 10.1002/ajmg.10024.
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Early prenatal ultrasound diagnosis of cleidocranial dysplasia.
Ultrasound Obstet Gynecol. 2000 Feb;15(2):154-6. doi: 10.1046/j.1469-0705.2000.00041.x.
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Cleidocranial dysostosis in infancy.婴儿期锁骨颅骨发育不全
Pediatr Radiol. 1981;11(2):114-6. doi: 10.1007/BF00971793.

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