Research & Literature

Nail patella syndrome: Knee symptoms and surgical outcomes. A questionnaire-based survey.

Tigchelaar S, Lenting A, Bongers EM, van Kampen A

Orthopaedics & traumatology, surgery & research : OTSR 2015; (101(8)):959-62.

Nail-patella syndrome: report of 11 pediatric cases.

Figueroa-Silva O, Vicente A, Agudo A, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2016; (30(9)):1614-7 doi:10.1111/jdv.13683.

Treatment of patellar instability in a case of hereditary onycho-osteodysplasia (nail-patella syndrome) with medial patellofemoral ligament reconstruction: A case report.

Gong Y, Yang C, Liu Y, et al.

Experimental and therapeutic medicine 2016; (11(6)):2361-2364 doi:10.3892/etm.2016.3180.

[Nail-patella syndrome and glaucoma: A case report].

Nicolle P, Baudouin C, Brasnu E

Journal francais d'ophtalmologie 2017; (40(2)):e51-e53 doi:10.1016/j.jfo.2015.11.019.

Nail-patella syndrome.

Witzgall R

Pflugers Archiv : European journal of physiology 2017; (469(7-8)):927-936 doi:10.1007/s00424-017-2013-z.

AJKD Atlas of Renal Pathology: Nail-Patella Syndrome-Associated Nephropathy.

Najafian B, Smith K, Lusco MA, et al.

American journal of kidney diseases : the official journal of the National Kidney Foundation 2017; (70(4)):e19-e20 doi:10.1053/j.ajkd.2017.08.001.

Nail-patella syndrome: clinical clues for making the diagnosis.

Price A, Cervantes J, Lindsey S, et al.

Cutis 2018; (101(2)):126-129.

Letter to the editor in reponse to Louboutin, Wascher, and Neyret in management of patellar problems in skeletally mature patients with nail-patella syndrome. KSSTA 2017 Oct;25(10):3012-3016. https://doi.org/10.1007/s00167-016-4044-y. Epub 2016 Feb 12.

Koëter S, Tigchelaar S, Bongers E

Knee surgery, sports traumatology, arthroscopy : official journal of the ESSKA 2021; (29(3)):1006-1007 doi:10.1007/s00167-018-4911-9.

Novel missense mutation affecting the LIM-A domain of LMX1B in a family with Nail-Patella syndrome.

Claverie-Martin F, Trindade A, Garcia-Gonzalez NC, Callejon AC

Intractable & rare diseases research 2019; (8(1)):14-19 doi:10.5582/irdr.2018.01131.

A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome.

Yan X, Lin J, Wang Y, et al.

BMC medical genetics 2019; (20(1)):71 doi:10.1186/s12881-019-0801-3.

Internal Carotid Artery Aplasia in a Patient With Nail-Patella Syndrome.

Kraus J, Jahngir MU, Singh B, Qureshi AI

Vascular and endovascular surgery 2020; (54(2)):175-181 doi:10.1177/1538574419888345.

Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis.

Lei L, Oh G, Sutherland S, et al.

Pediatric nephrology (Berlin, Germany) 2020; (35(9)):1647-1657 doi:10.1007/s00467-020-04564-w.

Clinical and genetic characterization of nephropathy in patients with nail-patella syndrome.

Harita Y, Urae S, Akashio R, et al.

European journal of human genetics : EJHG 2020; (28(10)):1414-1421 doi:10.1038/s41431-020-0655-3.

A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings.

Tognetti L, Baldassarri M, Fava F, et al.

Pediatric dermatology 2020; (37(6)):1205-1206 doi:10.1111/pde.14337.

Plateau iris syndrome and angle-closure glaucoma in a patient with nail-patella syndrome.

Gardin MA, Khor CC, Silva L, et al.

American journal of ophthalmology case reports 2020; (20()):100886 doi:10.1016/j.ajoc.2020.100886.

Nail-Patella syndrome with early onset end-stage renal disease in a child with a novel heterozygous missense mutation in the LMX1B homeodomain: A case report.

Carinelli S, Blanco OA, Perdomo-Ramirez A, Claverie-Martin F

Biomedical reports 2020; (13(5)):49 doi:10.3892/br.2020.1356.

[Prenatal diagnosis and pedigree analysis of a case of Nail-patella syndrome].

Cui Y, Liu J, Gu M, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020; (37(11)):1257-1260 doi:10.3760/cma.j.cn511374-20191218-00645.

Angiotensin-converting enzyme inhibitors in patients with Alport syndrome: can all patients benefit?

Rheault MN

Kidney international 2020; (98(6)):1400-1402 doi:10.1016/j.kint.2020.07.011.

A rare disorder causing chronic joint pain in an adolescent.

Millard N

JAAPA : official journal of the American Academy of Physician Assistants 2021; (34(2)):32-34 doi:10.1097/01.JAA.0000731500.86110.b4.

LMX1B-associated nephropathy that showed myelin figures on electron microscopy.

Shimohata H, Miyake Y, Yoshida Y, et al.

CEN case reports 2021; (10(4)):588-591 doi:10.1007/s13730-021-00612-y.

Total Knee Arthroplasty for Osteoarthritis in a Patient with Nail Patella Syndrome - A Case Report.

Serrano AF, Serrano PM

International medical case reports journal 2021; (14()):871-876 doi:10.2147/IMCRJ.S345262.

Nail-Patella Syndrome: Optical Coherence Tomography Angiography Findings.

Zuberi HZ, Angirekula A, Akram MR, Kooner KS

Case reports in ophthalmology 2022; (13(1)):227-233 doi:10.1159/000523984.

Case Report: Inversion of LMX1B - A Novel Cause of Nail-Patella Syndrome in a Swedish Family and a Longtime Follow-Up.

Lindelöf H, Horemuzova E, Voss U, et al.

Frontiers in endocrinology 2022; (13()):862908 doi:10.3389/fendo.2022.862908.

Nail-Patella Syndrome and Glaucoma: A Case Report and Review of the Literature.

Pallozzi Lavorante N, Iester M, Bonzano C, et al.

Case reports in ophthalmology 2022; (13(3)):984-990 doi:10.1159/000527234.

Total Knee Arthroplasty Without Reduction of the Patella for Genu Valgum With Permanent Dislocation of the Patella: A Case of Nail Patella Syndrome.

Ishibashi T, Tomita T, Tamaki M, et al.

Arthroplasty today 2023; (20()):101099 doi:10.1016/j.artd.2023.101099.

A deletion variant in LMX1B causing nail-patella syndrome in Japanese twins.

Kishio N, Iwama K, Nakanishi S, et al.

Human genome variation 2024; (11(1)):10 doi:10.1038/s41439-024-00266-z.

Management of a Meniscus Tear in a Patient With Nail-Patella Syndrome: A Case Report.

Grossi J, Garber L, Olexa M, et al.

Cureus 2025; (17(2)):e79461 doi:10.7759/cureus.79461.

Orthopedic manifestations and management of nail-patella syndrome: a narrative review.

Beaugé A, Sbampato V, Vazquez O, et al.

Frontiers in pediatrics 2026; (14()):1744875 doi:10.3389/fped.2026.1744875.