title: Cleidocranial dysplasia: a case report.
abstract: Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease. CCD is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt-related transcription factor 2(RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental abnormalities, short stature, a wide pubic symphysis, and a variety of other skeletal changes. A major finding of CCD is hypoplasia or aplasia of clavicular bones resulting in the ability of the patient to approximate the shoulders. Delayed closure of the anterior fontanelle and of metopic sutures causes frontal bossing. We report a case of CCD in a 3.5-year-old boy who referred to our clinic because of an unclosed anterior fontanelle and emphasize the importance of clinical findings in CCD.
authors.affiliation: Karadeniz Technical University, School of Medicine, Department of Pediatric Endocrinology, Trabzon, Türkiye. gulaykg@yahoo.com
authors.forename: Gülay
authors.initials: G
authors.lastname: Karagüzel
authors.forename: Filiz Azar
authors.initials: FA
authors.lastname: Aktürk
authors.forename: Emelgül
authors.initials: E
authors.lastname: Okur
authors.forename: Halit Reşit
authors.initials: HR
authors.lastname: Gümele
authors.forename: Yusuf
authors.initials: Y
authors.lastname: Gedik
authors.forename: Ayşenur
authors.initials: A
authors.lastname: Okten
mesh_terms: D000365:Age Determination by Skeleton; D001842:Bone and Bones / Q000002:abnormalities; D002675:Child, Preschool; D002973:Cleidocranial Dysplasia / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D050659:Core Binding Factor Alpha 1 Subunit / Q000235:genetics; D060905:Coxa Vara / Q000000981:diagnostic imaging; D003393:Cranial Sutures / Q000002:abnormalities; D006801:Humans; D007593:Joint Instability / Q000000981:diagnostic imaging / Q000209:etiology; D008297:Male; D011631:Pubic Symphysis / Q000000981:diagnostic imaging
chemical_list: D050659:Core Binding Factor Alpha 1 Subunit