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PYKNODYSOSTOSIS (OSTEOPETROSIS ACRO-OSTEOLYTICA).
AACE Clin Case Rep
June 2020
Division of Endocrinology, Department of Medicine, Bethesda, Maryland.
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 examination, imaging studies, and genetic testing on the patient.
Short stature and bone structure abnormalities in two siblings. Pycnodysostosis (also known as osteopetrosis acro-osteolytica).
Skeletal Radiol
September 2018
Department of Pediatric Medical Imaging, "Queen Fabiola" Children's University Hospital, Université Libre de Bruxelles, 15 Av. J. J. Crocq, 1020, Brussels, Belgium.
A challenging paediatric pathological femur fracture in pyknodysostosis (osteopetrosis acro-osteolytica): lessons learnt.
BMJ Case Rep
November 2014
Department of Trauma & Orthopaedics, Alder Hey Children's Hospital, Liverpool, Merseyside, UK.
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