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Clinical Pediatrics
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Cleidocranial Dysplasia: Report of 3 Cases and Literature Review

Zheng Shen, MD

Department of Medicine, the Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China

Chao Chun Zou, PhD

Department of Medicine, the Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China

Rong Wang Yang, MD

Department of Medicine, the Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China

Zheng Yan Zhao, MD

Department of Medicine, the Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China, zou108cc{at}yahoo.com

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.

Key Words: cleidocranial dysplasia • autosomal dominant • bone • RUNX2 • children • China

This version was published on March 1, 2009

Clinical Pediatrics, Vol. 48, No. 2, 194-198 (2009)
DOI: 10.1177/0009922808323107
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