Pyknodysostosis (Osteopetrosis Acro-Osteolytica)

Pyknodysostosis (Osteopetrosis Acro-Osteolytica)

ABSTRACT: Objective: To present a case of pyknodysostosis (PKND), a rare genetic cause of skeletal dysplasia that often goes undiagnosed even in patients with classic features. Methods: We report a case of PKND that went undiagnosed over many years despite classic features. We performed physical ex...

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Bibliographic Details
Main Authors: Gregory S. Schmidt, MD, John P. Schacht, DO, Treyce S. Knee, MD, Mohamed K.M. Shakir, MD, Thanh D. Hoang, DO
Format: Article
Language:English
Published: Elsevier 2020-09-01
Series:AACE Clinical Case Reports
Online Access:http://www.sciencedirect.com/science/article/pii/S2376060520306210

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http://www.sciencedirect.com/science/article/pii/S2376060520306210

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