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About 8 results

ALLMedicine™ Absent Patella Center

Research & Reviews  4 results

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 25th, 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

Apr 30th, 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...

Isolated unilateral absent patella and contralateral small patella.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3794225
BMJ Case Reports; Duygun F, Sertkaya O et. al.

Sep 4th, 2013 - Isolated bilateral absent patella is seen very rarely. It is generally encountered as a part of nail-patella syndrome. An 18-year-old male patient presented with left absent patella and right small patella.

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

Jan 31st, 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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Clinicaltrials.gov  4 results

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 25th, 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

Apr 30th, 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...

Isolated unilateral absent patella and contralateral small patella.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3794225
BMJ Case Reports; Duygun F, Sertkaya O et. al.

Sep 4th, 2013 - Isolated bilateral absent patella is seen very rarely. It is generally encountered as a part of nail-patella syndrome. An 18-year-old male patient presented with left absent patella and right small patella.

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

Jan 31st, 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...

see more →