Cleidocranial dysplasia (CCD) causing respiratory distress syndrome in a newborn infant. A case report.
نویسندگان
چکیده
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.
منابع مشابه
Familial Cleidocranial Dysplasia in a Neonate: A Case Report
Background: Cleidocranial dysplasia (CCD) is a rare inherited skeletal dysplasia, with an incidence of 1 case per 1000,000 individuals. It is a form of predominantly autosomal dominant inheritance and is associated with a mutation in runt related transcription factor-2 gene mapped on chromosome 6p21. This disease primarily affects the bones formed by intramembranous ossification and is characte...
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ورودعنوان ژورنال:
- Journal of radiology case reports
دوره 4 4 شماره
صفحات -
تاریخ انتشار 2010