Cleidocranial Dysplasia: Report of 3 Cases and Literature Review

Background Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome that is characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. It is caused by mutations of the transcription factor RUNX2, which is known as a majo...

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Bibliographic Details
Published in:Clinical Pediatrics 2009-03, Vol.48 (2), p.194-198
Main Authors: Shen, Zheng, Zou, Chao Chun, Yang, Rong Wang, Zhao, Zheng Yan
Format: Article
Language:English
Subjects:
Bone dysplasia
Bone mineral density
Cbfa-1 protein
Child
Child, Preschool
Children
China
Clavicle - abnormalities
Clavicle - diagnostic imaging
Cleidocranial Dysplasia - diagnosis
Cleidocranial Dysplasia - genetics
Cranial sutures
Craniofacial syndromes
Female
Genetic Counseling
Humans
Hypoplasia
Literature reviews
Male
Parietal Bone - abnormalities
Parietal Bone - diagnostic imaging
Radiography
Skeleton
Supernumerary
Teeth
Thyroid
Thyroid gland
Thyroxine
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Summary:Background Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome that is characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. It is caused by mutations of the transcription factor RUNX2, which is known as a major regulator of bone differentiation. Objective To report on 3 Chinese pediatric cases of CCD with an emphasis on the clinical presentation and diagnostic modalities. Case Summary 3 Chinese children were admitted to our hospital because of short stature. All the children had hypoplastic clavicles, absent calvarium, open fontanel, and messy palmprint. Screening laboratory test results for bone mineral density, free thyroxine, and thyroid stimulating hormone were all normal. One child had mental retardation. Two were hereditary, and 1 was sporadic. Conclusion These results showed that CCD should be suspected in patients with short stature and poor clavicles, calvarium, or teeth. Timely recognition and hereditary tendency counseling is required and useful.
ISSN:0009-9228
1938-2707
DOI:10.1177/0009922808323107