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 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.


METHODS
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.


CONCLUSIONS
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.
Shen
Zheng
Z
Department of Medicine, the Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China.
Zou
Chao Chun
CC
Yang
Rong Wang
RW
Zhao
Zheng Yan
ZY
D002648:Child; D002675:Child, Preschool; D002681:China; D002968:Clavicle / Q000002:abnormalities / Q000000981:diagnostic imaging; D002973:Cleidocranial Dysplasia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D010294:Parietal Bone / Q000002:abnormalities / Q000000981:diagnostic imaging; D011859:Radiography