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

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

Kristina Imeen Ringe, Eckart Schirg, Michael Galanski

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


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

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DOI: https://doi.org/10.3941/jrcr.v4i4.396