Results 61 to 70 of about 1,512 (149)

Imaging of nail-patella syndrome.

Hong Kong medical journal = Xianggang yi xue za zhi, 2005
Nail-patella syndrome is a rare disorder, which is inherited as an autosomal dominant trait. This condition is also known as hereditary osteo-onychodysplasia or Fong's syndrome. Posterior iliac horns are commonly found in this syndrome and are considered pathognomonic.
Tuncbilek N., Karakas H.M., Okten O.O.
openaire   +2 more sources

Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology

Clinical Genetics, Volume 108, Issue 4, Page 379-392, October 2025.
The proposed updated classification of humeroradial synostosis is based on the molecular pathways of the genes involved: (1) chondrogenesis and osteogenesis; (2) limb development and patterning; (3) genome regulation. Thus, pathologies belonging to the same molecular type may have overlapping clinical phenotypes, helping to structure the diagnostic ...
Fiona Leduc, Clémence Vanlerberghe, Fabienne Escande, Perrine Brunelle, Florence Petit, Anne Dieux   +5 more
wiley   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B ‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

4in1 Procedure in Treating Congenital Dislocation of Patella in Children

Orthopaedic Surgery, Volume 17, Issue 9, Page 2647-2652, September 2025.
Congenital dislocation of patella (CDP) is a rare condition. The 4in1 procedure includes lateral release, correction of quadriceps, Roux‐Goldthwait procedure, and medial patello‐femoral ligament (MPFL) reconstruction. Early diagnosis and the 4in1 procedure optimize patellar stability and knee function, preventing long‐term complications.
Meng‐jie Chen, Yi‐Chen Wang, Qi‐Chao Ma, Qin Zhang, Ting‐ting Li, Fang‐Chun Jin, Yi Luo   +6 more
wiley   +1 more source

Triangular Lunulae in Papillon–Lefèvre Syndrome: A Case Report

Clinical Case Reports
Triangular lunulae, typically associated with Nail–Patella Syndrome, may also present in other syndromes, as seen in this case. Papillon–Lefèvre syndrome is a rare genodermatosis linked to significant morbidity.
Zarak Khan Shiraz, Fahad Faizullah, Qaisar Ali Khan, Irfan Ullah, Mehran Khan, Bader Semakieh, Zain Ul Islam, Ravina Verma   +7 more
doaj   +1 more source

Nail-Patella Syndrome [PDF]

Proceedings of the Royal Society of Medicine, 1963
J A Fixsen, D R Sweetnam
openaire   +3 more sources

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

Isolated loss of inferior pubic ramus: a case report

Journal of Medical Case Reports, 2008
Introduction It has been stated that regulation of the development of the iliac bone is different from that of the ischium and pubis. There are well-known clinical syndromes concerned with hypoplasia of ischiopubic bone, such as small patella syndrome ...
Saber Aly
doaj   +1 more source

Type III collagen disorders: A case report and review of literature

Indian Journal of Pathology and Microbiology, 2016
Collagen type III is a normal component of interstitium and blood vessels. Collagenofibrotic glomerulopathy (CG) and nail patella syndrome (NPS) are the diseases of abnormal type III collagen deposition.
A Anitha, Mahesha Vankalakunti, Vishwanath Siddini, Kishore Babu, Ravishankar Bonu, Sudarshan Ballal   +5 more
doaj   +1 more source

Abstracts From PVRI 2026 Dublin

Pulmonary Circulation, Volume 16, Issue 2, June 2026.
wiley   +1 more source