Zobrazeno 1 - 10
of 90
pro vyhledávání: '"Iliac horns"'
Publikováno v:
Radiology Case Reports, Vol 19, Iss 10, Pp 4327-4330 (2024)
Nail-patella syndrome (NPS) is a rare autosomal dominant pleiotropic disorder characterized by dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns and dysplasia of the elbows. We present a case of a 56-year-old female presenting with
Externí odkaz:
https://doaj.org/article/1323889eb5454275b145bcdbf080d021
Akademický článek
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Akademický článek
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Publikováno v:
Dermatology Practical & Conceptual, Vol 9, Iss 4 (2019)
Externí odkaz:
https://doaj.org/article/a79f89e9a916402598431f1f663cdca6
Publikováno v:
BMJ Case Rep
We describe here an interesting case of a 7-day-old male infant brought with parental concerns of inability to extend both knees. Clinical evaluation revealed dysplastic fingernails, bilateral abnormal patellae, triangular lunules in conjunction with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::536a7fb1f2c292e2b59b2ed5dcec0272
https://pubmed.ncbi.nlm.nih.gov/33692073
https://pubmed.ncbi.nlm.nih.gov/33692073
Publikováno v:
Vascular and Endovascular Surgery. 54:175-181
Nail-patella syndrome (NPS) is a rare disorder characterized by abnormal development of ectodermal and mesodermal tissues. Classically, NPS presents as a triad of nail dysplasia, dysplastic patellae, and bony exostoses of the ilia known as “iliac h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::760bf76f0dd4926eec1c22beba52e51c
https://doi.org/10.1177/1538574419888345
https://doi.org/10.1177/1538574419888345
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Frontiers in Pediatrics
Frontiers in Pediatrics
Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic tetrad of absent or hypoplastic finger and toe nails, absent or hypoplastic patella, skeletal deformities involving the elbow joints, and iliac horns. This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4570df7b60ea5da0c0ad85fde803bf39
https://www.frontiersin.org/articles/10.3389/fped.2021.638630/full
https://www.frontiersin.org/articles/10.3389/fped.2021.638630/full
Publikováno v:
Dermatology online journal. 26(7)
Nail-patella syndrome (NPS) is a hereditary disorder characterized by fingernail changes, elbow dysplasia, hypoplastic patellae, and presence of iliac horns. Clinical presentation can be subtle, and the spectrum of presentation often makes NPS a chal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::673394ca8d8b644d9bb9aa3ae1959437
https://pubmed.ncbi.nlm.nih.gov/32898401
https://pubmed.ncbi.nlm.nih.gov/32898401
Publikováno v:
Türk Radyoloji Dergisi/Turkish Journal of Radiology. :94-96
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::33f53f1e63a77b3e8487fd1322146a1e
https://doi.org/10.5152/turkjradiol.2016.422
https://doi.org/10.5152/turkjradiol.2016.422
Publikováno v:
Challenging Cases in Dermatology Volume 2 ISBN: 9783030218546
A female newborn presented with erythematous papules and nodule together with gum hyperplasia and knee contracture. The distinctive clinical presentation, along with the characteristic histological, radiological and molecular findings confirmed the d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::375dc382965c54c966e80fd932afba49
https://doi.org/10.1007/978-3-030-21855-3_38
https://doi.org/10.1007/978-3-030-21855-3_38
