Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.

Abstract

Chondrodysplasia punctata (CDP) is a heterogenous group of skeletal dysplasias characterized by aberrant bone mineralization, manifesting radiologically as epiphyseal stippling. Among this group, brachytelephalangic dysplasia, a benign form of CDP (CDPX1), is probably under-reported. It is an X-linked recessive disorder and is characterized by a flat nasal… (More)
DOI: 10.1097/MCD.0b013e32835439cd

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Cite this paper

@article{Gupta2012BrachytelephalangicCP, title={Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.}, author={Neerja Gupta and Manju Ghosh and Rashmi Tambe Shukla and Ganesh Prasad Das and Madhulika Kabra}, journal={Clinical dysmorphology}, year={2012}, volume={21 3}, pages={113-7} }