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BMJ Case Rep ; 20122012 Aug 08.
Article in English | MEDLINE | ID: mdl-22878985

ABSTRACT

Cleidocranial dysplasia (CCD) is a rare skeletal dysplasia characterised by a defect in ossification. Frequently reported clinical findings are delayed closure of the fontanelles and cranial sutures, hypoplastic clavicles, dental abnormalities and short stature. Our patient suffered from complete absence of ossification of both parietal bones. This is a rare and severe defect that has been reported in only a few patients with CCD.


Subject(s)
Cleidocranial Dysplasia/diagnosis , Parietal Bone/pathology , Cleidocranial Dysplasia/genetics , Cleidocranial Dysplasia/pathology , Codon, Nonsense , Core Binding Factor Alpha 1 Subunit/genetics , Female , Head Protective Devices , Humans , Imaging, Three-Dimensional , Infant , Infant, Newborn , Pregnancy
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