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Brachytelephalangic chondrodysplasia punctata: A difficult diagnosis

We report on a child with the brachytelephalangic type of chondrodysplasia punctata, a very rare form of the disease. At birth, the patient was originally diagnosed with the Conradi-Hunermann type, a more common and severe type. A pediatric radiologist questioned the diagnosis and followed up with t...

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Dades bibliogràfiques
Publicat a:Radiol Case Rep
Autors principals: Sanfilippo, Andrea, Bartoletti, Stefano
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2015
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4898183/
https://ncbi.nlm.nih.gov/pubmed/27307841
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2484/rcr.v5i1.308
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