title: A rare presentation of cleidocranial dysplasia.
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.
authors.affiliation: Department of Paediatrics, Medical Center Leeuwarden, Leeuwarden, The Netherlands.
authors.forename: Ilse
authors.initials: I
authors.lastname: Broeks
authors.forename: Irma E
authors.initials: IE
authors.lastname: Veenstra-Knol
authors.forename: Arvid W A
authors.initials: AW
authors.lastname: Kamps
mesh_terms: D002973:Cleidocranial Dysplasia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D018389:Codon, Nonsense; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics; D005260:Female; D006260:Head Protective Devices; D006801:Humans; D021621:Imaging, Three-Dimensional; D007223:Infant; D007231:Infant, Newborn; D010294:Parietal Bone / Q000473:pathology*; D011247:Pregnancy
chemical_list: D018389:Codon, Nonsense; D050659:Core Binding Factor Alpha 1 Subunit; C493709:RUNX2 protein, human