Results 81 to 90 of about 1,289,318 (184)
Case Reports in Surgery, Volume 2026, Issue 1, 2026.Case A 23‐month‐old girl with Morquio A syndrome (mucopolysaccharidosis IVA [MPS IVA]) scheduled for atlantoaxial stabilization surgery sustained a cervical spinal cord injury with tetraplegic symptoms following a low‐energy fall. Computed tomography (CT) images showed forward translation of C1 over C2 and magnetic resonance imaging (MRI) revealed ...
Verneri Kryssi +5 more
wiley +1 more source
Crescentic glomerulonephritis associated with nail-patella syndrome in a 13-year-old girl
, 2008 Nail-patella syndrome (NPS), also known as hereditary osteoonychodysplasia, is a rare autosomal dominant pleiotropic disorder, defined by the association of nail dysplasia, skeletal abnormalities and renal lesions.(1) Skeletal features include absent or ...
GUERGOEZE, Metin K. +7 more
core +1 more source
34722 Nail-patella syndrome: An early dermatologic diagnosis [PDF]
, 2022 Presentation: A 3-month-old female presented with congenital onychodystrophy of both upper extremities and unilateral postaxial polydactyly of her left lower extremity.
Kennelly, Kelly +2 more
core +1 more source
Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.Background Osteogenesis imperfecta (OI) is a rare collagen disorder causing brittle bones. Tibial tubercle fractures are uncommon in children, comprising < 2.7% of pediatric fractures, and bilateral injuries in OI are exceptionally rare. No prior reports detail bilateral tibial tubercle fractures with concurrent bilateral compartment syndrome.
Tuckerman Jones +9 more
wiley +1 more source
Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.Background Patellar tendon rupture is a rare lesion that usually occurs in adult patients with predisposing factors. The condition is even rarer in pediatric populations and presents either as a sleeve fracture of the patella’s inferior pole or as an avulsion of the tibial tubercle.
Elvin Gurbanov +5 more
wiley +1 more source
Proteasome inhibition alleviates proteinuria in Lmx1b knock-in mice with dysfunctional LIM domains
Nature CommunicationsMutations in the transcription factor LMX1B have been identified as the cause of the autosomal-dominant disease nail-patella syndrome. It manifests in small or absent patellae and dysplastic or missing toe- and fingernails, but the prognosis of the ...
Joshua Hermens +11 more
doaj +1 more source
Congenital Anomalies of the Knee—Hypoplasia of the Meniscus: A Case Report
Case Reports in Orthopedics, Volume 2026, Issue 1, 2026.Background Congenital anomalies involving the meniscus and anterior cruciate ligament (ACL) are rare and often discovered incidentally. Discoid meniscus is the most frequently reported congenital variant, whereas medial meniscal hypoplasia and ACL agenesis remain exceptionally uncommon.
Arianna Paa +6 more
wiley +1 more source
A case of ectopic cilia in nail-patella syndrome
, 2012 Both ectopic cilia and nail-patella syndrome (NPS) are rare entities. To our knowledge we report the first case of the two anomalies coexisting in one patient.
Kipioti, Athina +3 more
core +1 more source
A child with nail-patella syndrome including nephropathy, autism, and epilepsy [PDF]
, 2004 Nail-Patella syndrome is characterized by dysplasia or absence of nailbeds and patellae, abnormalities of the elbow such as subluxation of the radial head, hornlike overgrowths of the iliac bones, and in some cases, nephropathy.
Yagi, Kazuro +5 more
core +1 more source
Hypertrophic Osteopathy Associated With Intrathoracic Masses in 5 Dogs and Review of the Literature
Veterinary Medicine International, Volume 2026, Issue 1, 2026.This study describes the clinical and radiographical findings of hypertrophic osteopathy in 5 female mature adult dogs with pulmonary and mediastinal masses. Besides, the literature review from the past to today provides information about the disease.
Mehmet Alper Cetinkaya +5 more
wiley +1 more source