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Cleidocranial Dysplasia

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Atlas of Genetic Diagnosis and Counseling
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Abstract

Cleidocranial dysplasia is a generalized skeletal dysplasia affecting not only the clavicles but almost the entire skeletal system. It is characterized by aplasia or hypoplasia of the clavicles, enlarged calvaria with frontal bossing, multiple Wormian bones, delayed tooth eruption, supernumerary unerupted teeth, distal phalanges with abnormally pointed tufts, hypoplasia of the pelvis, and numerous other abnormalities (Jensen 1990).

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Chen, H. (2017). Cleidocranial Dysplasia. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_44

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_44

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