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About 10 results

ALLMedicine™ Absent Patella Center

Research & Reviews  4 results

Arthrogryposis 
https://emedicine.medscape.com/article/941917-print

Jan 6th, 2020 - Practice Essentials The term arthrogryposis, or arthrogryposis multiplex congenita (AMC), refers to a group of nonprogressive conditions characterized by multiple joint contractures found throughout the body at birth.[1] The designation is current...

Nail-patella syndrome: report of 11 pediatric cases.
https://doi.org/10.1111/jdv.13683
Journal of the European Academy of Dermatology and Venere... Figueroa-Silva O, Vicente A et. al.

Apr 26th, 2016 - Nail-patella syndrome (NPS) is an inherited disease produced by mutations in the LMX1B gene. It is characterized by fingernail dysplasia, hypoplastic or absent patella, dysplasia of the elbows and iliac horns on X-ray. It is useful to know this sy...

Aniridia absent patella
https://rarediseases.info.nih.gov/diseases/685/aniridia-absent-patella

May 1st, 2014 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1069 Definition A rare syndrome described in three members of a family (a boy, his father, and his paternal grandm...

Absent patella
https://rarediseases.info.nih.gov/diseases/8709/absent-patella

Feb 1st, 2012 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 86789 Definition Isolated patella aplasia-hypoplasia is an extremely rare genetic condition characterized by conge...

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