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Mymensingh Med J 2018 Apr;27(2):424-428

Dr Richa Modgil, Senior Lecturer, Department of Oral Medicine and Radiology, Eklavya Dental College & Hospital, Kotputli, Jaipur, Rajasthan, India.

Cleidocranial dysplasia is a developmental anomaly of the skeleton and the teeth. This condition may be inherited and be transmitted as dominant characteristics in either gender, or may appear spontaneously. It presents with skeletal defects of several bones, such as partial or complete absence of clavicles, late closure of the fontanels, presence of open skull sutures and multiple wormian bones. Read More

Am J Med Genet A 2015 Jun 21;167(6):1386-90. Epub 2015 Apr 21.

CHU Nantes, Service de Génétique Médicale, Nantes, France.

Loss-of-function mutations of RUNX2 are responsible for cleidocranial dysplasia, an autosomal dominant disorder characterized by delayed closure of cranial sutures, aplastic or hypoplastic clavicles, moderate short stature and supernumerary teeth. By contrast, an increased gene dosage is expected for duplication of the entire RUNX2 sequence and thus, a phenotype different from cleidocranial dysplasia. To date, two cousins with a duplication including the entire RUNX2 sequence in addition to MIR586, CLIC5 and the 5' half of SUPT3H have been reported. Read More

J Craniofac Surg 2013 Jan;24(1):126-9

Department of Surgery, and †Genetics; ‡Pediatrics, Comer Children's Hospital, University of Chicago Medical Center, Chicago, IL 60637, USA.

The RUNX2 transcription factor regulates osteoblast differentiation. Its absence, as with cleidocranial dysplasia, results in deficient bone formation. However, its excess seems to follow a dose response of over ossification. Read More

J Biol Chem 2013 Feb 7;288(8):5291-302. Epub 2013 Jan 7.

Mayo Clinic, Rochester, Minnesota 55905, USA.

Runx2 and Axin2 regulate craniofacial development and skeletal maintenance. Runx2 is essential for calvarial bone development, as Runx2 haploinsufficiency causes cleidocranial dysplasia. In contrast, Axin2-deficient mice develop craniosynostosis because of high β-catenin activity. Read More

J Vasc Interv Neurol 2008 Oct;1(4):125

Zeenat Qureshi Stroke Research Center, University of Minnesota, Minneapolis, MN (SMC) and the department of Radiology, University of Minnesota, Minneapolis, MN (AM).

A 29-year-old woman presented with a near-syncopal event, followed by right-sided weakness and numbness as well as dysarthria. The symptoms resolved over several hours. The patient had a history of migraine and cleidocranial dysostosis. Read More

Eur J Orthod 2003 Apr;25(2):139-48

Developmental Biology Programme, Institute of Biotechnology, and Department of Pedodontics and Orthodontics, Institute of Dentistry, University of Helsinki, Finland.

The development and growth of the skull is a co-ordinated process involving many different tissues that interact with each other to form a complex end result. When normal development is disrupted, debilitating pathological conditions, such as craniosynostosis (premature calvarial suture fusion) and cleidocranial dysplasia (delayed suture closure), can result. It is known that mutations in the fibroblast growth factor receptors 1, 2, and 3(FGFR1, 2, and 3), as well as the transcription factors MSX2 and TWIST cause craniosynostosis, and that mutations in the transcription factor RUNX2 (CBFA1) cause cleidocranial dysplasia. Read More

SADJ 2002 Aug;57(8):343-4

Am J Med Genet 2001 ;106(4):258-71

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Normal skeletal development requires coordinated temporal and spatial gene expression patterns that specify the functions of various cell types. Transcription factors by definition coordinate this process and are themselves subject to hierarchical levels of regulation. Together they determine the context-dependent function of each transcription factor. Read More

Eur J Oral Sci 1999 Aug;107(4):265-75

Department of Pedodontics and Orthodontics, Institute of Dentistry, University of Helsinki, Finland.

To study the possible role of apoptosis in calvarial bone and suture development, terminal deoxynucleotidyl transferase-mediated nick-end labeling (TUNEL) was performed on whole mount and sectioned calvariae from mice aged between E14 and P6. We also analyzed by in situ hybridization the expression of Msx2, Bmp4 and Bmp7 genes, which are known to act in conserved signaling pathways leading to apoptosis. We found TUNEL-positive cells from E16 onwards in the calvarial bones, intervening sutures and fontanelles. Read More

Ned Tijdschr Tandheelkd 1996 Jan;103(1):9-10

Afdeling Mond- en Kaakchirurgie, Academisch Ziekenhuis St. Radboud te Nijmegen, postbus 9101, 6500 HB Nijmegen.

In this article an introduction into craniofacial surgery in children is given based on the case histories of two patients (cleido-cranial dysplasia and cranio-synostosis). Read More

Radiol Clin North Am 1991 Mar;29(2):195-218

Department of Radiology, Presbyterian-University Hospital, Pittsburgh, Pennsylvania.

Congenital anomalies of the pediatric skull are caused by a diverse group of disorders. For the purposes of this discussion, these entities can be classified according to the radiographic appearance of the skull, which may be similar in a variety of different diseases. Enlarged parietal foramina, sinus pericranii, aplasia cutis congenita, anterior fontanelle dermoid, cephaloceles, and craniolacunia are all examples of loceles, and craniolacunia are all examples of calvarial defects. Read More

Bilt Udruz Ortodonata Jugosl 1990 ;23(2):97-105

Clinical orofacial symptoms of the following genetic syndromes are described: Apert, Cornelia de Lange, Crouzon, Mongolism, Cleidocranial dysostosis, Oral-facial-digital, Treacher-Collins, and Van der Woude. Characteristic cases are illustrated. Read More

Rev Orthop Dento Faciale 1990 ;24(4):439-63

Neurol Clin 1985 Feb;3(1):117-45

This article reviews the abnormalities of the skull that occur in children. The disorders are listed in tables to organize a logical complete classification useful for differential diagnosis. Normal skull development and anatomy, including benign variations, are discussed as a frame of reference so that the reader will better understand the various disorders. Read More

Turk Tip Cemiy Mecm 1972 Nov;38(11):481-8

Dent Pract Dent Rec 1970 Dec;21(4):137-48

J Am Osteopath Assoc 1970 Sep;70(1):78-100

Pediatria (Bucur) 1969 Jan-Feb;18(1):23-32

Arch Julius Klaus Stift Vererbungsforsch Sozialanthropol Rassenhyg 1969 ;44(3-4):suppl 14-27

J Pediatr 1967 Apr;70(4):636-47

Singapore Med J 1963 Dec;3:142-6

Conn State Med J 1955 Jun;19(6):464-8