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

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

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1
Department of Radiology, Hannover Medical School, Hannover, Germany.

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.

KEYWORDS:

CCD; Cleidocranial dysplasia; Scheuthauer Marie-Sainton Syndrome; hypoplastic clavicle

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