648 results match your criteria: "Nail-Patella Syndrome"
The role of persistent right umbilical vein in the diagnosis of fetal genetic syndromes.
J Obstet Gynaecol Res
January 2025
Department of Maternal Fetal Medicine, Health Science University, Zeynep Kamil Women and Children's Diseases Training and Research Hospital, Istanbul, Turkey.
Introduction: Persistent right umbilical vein (PRUV) is an embryonic vascular abnormality. Recent studies suggested that the perinatal outcome was good and the risk of aneuploidy was low in isolated forms. Our purpose in this study was to assess the relation of PRUV with genetic abnormalities and demonstrate concomitant malformations and perinatal outcomes of these fetuses.
View Article and Find Full Text PDFEvidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study.
Sci Rep
December 2024
Department of Pain and Palliative Care, Hôpital Necker-Enfants Malades, AP-HP, 149 rue de Sèvres, Paris, France.
Article Synopsis
Radiological manifestations of nail-patella syndrome in a 56-year-old female: A case report.
Radiol Case Rep
October 2024
Department of Radiology, National Academy of Medical Sciences, Bir Hospital, Kathmandu, Nepal.
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 bilateral knee pain, where initial radiographic findings of hypoplastic patellae prompted further investigation, revealing characteristic skeletal anomalies consistent with NPS. This case underscores the importance of recognizing radiological clues and conducting thorough clinical evaluation to diagnose rare genetic conditions such as NPS.
View Article and Find Full Text PDFA Modified 4-in-1 Stanisavljevic Procedure for Treating Obligatory or Congenital Patellar Dislocations in Children: A Surgical Technique.
HSS J
August 2024
Department of Pediatric Orthopedics, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Article Synopsis
- * The study discusses a surgical method involving extensive quadriceps realignment and optional techniques to effectively treat these dislocations, following principles established in 1976 to minimize tissue damage.
- * Over 24 patients treated with this method from 2002 to 2021 showed successful outcomes, with improvements in stability and functionality, allowing many to participate in sports, and resulting in a favorable average pedi-IKDC score post-surgery.
Overlooked nail-patella syndrome: Proteinuria identified during regular health check-ups at 3 years of age.
Pediatr Int
July 2024
Department of Pediatrics, Hirosaki University Hospital, Hirosaki, Japan.
A Family With Nail-Patella Syndrome Caused by a Germline Mosaic Deletion of .
Ann Lab Med
November 2024
Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
[Translated article] Congenital and Hereditary Nail Disease.
Actas Dermosifiliogr
September 2024
Departamento de Dermatología, Consulta Castellana 179, Madrid, España.
Article Synopsis
- - Nail disorders in newborns can occur on their own or be a sign of broader health issues or genetic skin disorders, making their examination quite complex.
- - The review discusses various nail changes that happen in newborns, including conditions like Beau's lines and onychoschizia, and stresses the importance of recognizing these changes for identifying serious underlying conditions.
- - It also emphasizes the significance of certain hereditary diseases linked to nail abnormalities, such as nail-patella syndrome and congenital dyskeratosis, and explains how to differentiate between these conditions for accurate diagnosis.
Congenital nail abnormalities.
Hand Surg Rehabil
April 2024
Department of Pediatric Orthopedics, Armand Trousseau Hospital - Sorbonne University, 26 Avenue du Dr Arnold Netter, 75012 Paris, France. Electronic address:
Article Synopsis
- Most cases resolve naturally with growth and don’t need treatment, so doctors should reassure parents instead.
- Common conditions include syndactyly and thumb duplication, with treatment mostly involving surgery; however, nail problems can also indicate systemic diseases, warranting careful evaluation.
ST-segment elevation myocardial infarction in Nail-Patella syndrome with anomalous coronary anatomy and aneurysms: a case report.
Eur Heart J Case Rep
May 2024
Department of Cardiovascular Medicine, Ascension Macomb Medical Center, 11800 Twelve Mile Rd, Warren, MI 48093, USA.
Article Synopsis
- Nail-Patella syndrome (NPS) is a genetic condition causing various skeletal abnormalities and is often associated with renal issues due to changes in collagen.
- A 62-year-old woman with a long history of NPS presented with chest pain and was found to have severe coronary artery blockage and aneurysms, leading to successful stent placement.
- This case is noteworthy as it’s the first documented instance of coronary vascular anomalies in an NPS patient, suggesting that healthcare providers may need to consider additional vascular issues when treating individuals with this syndrome.
Exome sequencing of 1190 non-syndromic clubfoot cases reveals as a novel disease gene.
J Med Genet
June 2024
Department of Neurology, Washington University in Saint Louis School of Medicine, Saint Louis, Missouri, USA
Article Synopsis
- Clubfoot is a common congenital condition characterized by a rigid inward and downward foot position, with its causes remaining largely unclear despite some known genetic factors.
- Researchers analyzed exome sequence data from 1190 cases of non-syndromic clubfoot along with their family members, focusing on uncovering rare genetic variants associated with the condition across different ethnicities.
- The study identified rare variants in 29 genes linked to clubfoot cases, including previously unrecognized genes, and revealed that a small percentage of cases had variants associated with known diseases, expanding the understanding of the genetic basis of clubfoot.
Multidisciplinary approach in diagnosis and treatment of Fong disease.
J Surg Case Rep
April 2024
Department of Orthopedics and Traumatology, Medical University Sofia, Sofia 1431, Bulgaria.
Article Synopsis
- - Nail-patella syndrome, or Fong disease, is a rare genetic disorder that primarily affects nail and bone development, leading to issues like abnormal fingernails and knee instability due to patellar problems.
- - Despite a lot of focus on the clinical and imaging aspects of knee issues related to the syndrome, there's a lack of detailed studies on comprehensive diagnostic strategies.
- - The text discusses an unusual case of Fong disease with specific genetic features and highlights the importance of a careful clinical evaluation and well-planned surgical treatment for better management of the condition.
Nail-patella syndrome with nephropathy in a de novo LMX1B mutation: triangular lunula of the thumb and lack of finger creases as clues.
Pediatr Nephrol
September 2024
Department of Pediatrics, National Hospital Organization Saitama Hospital, Wako, Saitama, Japan.
Article Synopsis
- * Each person's experience with NPS can differ significantly, making diagnosis challenging, especially since kidney biopsies may not provide clear results.
- * A case study of a 6-year-old girl highlighted that genetic testing revealed her condition despite a kidney biopsy showing nonspecific results, emphasizing the need for awareness about certain physical signs to improve diagnosis and avoid unnecessary procedures.
Case report: A novel R246L mutation in the LMX1B homeodomain causes isolated nephropathy in a large Chinese family.
Medicine (Baltimore)
March 2024
Puyang Oilfield General Hospital, Puyang, China.
Article Synopsis
- Genetic factors play a crucial role in chronic kidney disease (CKD) and end-stage renal disease (ESRD), with advancements in genetic testing identifying hereditary conditions linked to mutations like LMX1B.
- A 13-year-old girl diagnosed with nephrotic syndrome developed ESRD and tests revealed a specific mutation in the LMX1B gene; her family's history showed multiple relatives with similar kidney issues.
- The study indicates that the newly identified missense mutation (c.737G > T, p.Arg246Leu) may lead to isolated nephropathy, highlighting a significant genetic link in this family's kidney disease.
A deletion variant in LMX1B causing nail-patella syndrome in Japanese twins.
Hum Genome Var
February 2024
Department of Pediatrics, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Nail-patella syndrome (NPS) is a hereditary disease caused by pathogenic variants in LMX1B and characterized by nail, limb, and renal symptoms. This study revealed a likely pathogenic LMX1B variant, NM_002316.4: c.
View Article and Find Full Text PDFThe first presentation of a case of nail-patella syndrome newly diagnosed at the onset of rheumatoid arthritis: a case report.
BMC Musculoskelet Disord
February 2024
Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Faculty of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, 2-5-1 Shikata-Cho, Kita-Ku, Okayama, 700-8558, Japan.
Article Synopsis
- Nail-patella syndrome (NPS) is a rare genetic condition marked by issues with nails, knee dislocation, and the presence of iliac horns, and this report documents its first diagnosis coinciding with rheumatoid arthritis (RA).
- A 74-year-old man, who had a previous knee dislocation and other joint pain, was diagnosed with both RA and NPS after imaging and tests showed typical symptoms of both conditions.
- The patient was treated successfully with methotrexate and a Janus kinase (JAK) inhibitor, leading to remission and underscoring the importance of recognizing NPS in similar clinical contexts.
The limb dorsoventral axis: Lmx1b's role in development, pathology, evolution, and regeneration.
Dev Dyn
September 2024
Department of Cellular and Molecular Signalling, Instituto de Biotecnología y Biomedicina de Cantabria (IBBTEC), CSIC-SODERCAN-University of Cantabria), Santander, Spain.
Article Synopsis
- - The study highlights the importance of dorsoventral patterning in limb anatomy, which has not been as thoroughly researched as other developmental axes and involves key extensor and flexor muscles.
- - It discusses how the transcription factor Lmx1b is crucial for determining dorsal limb characteristics and its role in conditions like Nail-Patella syndrome, bringing attention to genetic and molecular implications.
- - The review also explores the connection between dorsoventral polarity and digit tip regeneration, aiming to encourage further investigation into this vital yet underrated aspect of limb function and evolution.
A Case of Symmetrical Bilateral Bifocal Femur Fracture with Bilateral Patella Fracture - A Case Report!
J Orthop Case Rep
December 2023
Department of Orthopaedic, Sancheti Institute of Orthopaedics and Rehabilitation, Pune, Maharashtra, India.
Article Synopsis
- Bilateral bifocal femur fractures, often caused by high-velocity trauma like falls or accidents, can lead to serious health issues such as shock or fat embolism.
- A case study of a 47-year-old man who fell from 35 feet showed he suffered multiple fractures, but after timely medical intervention, he stabilized and underwent surgery.
- The conclusion emphasizes the importance of thorough evaluation for other injuries and suggests that single-stage surgical treatment is beneficial for reducing recovery time and overall costs.
Dilated Cardiomyopathy and Nail-Patella Syndrome: A Case Report.
Cureus
November 2023
Internal Medicine, Michigan State University College of Human Medicine, East Lansing, USA.
Article Synopsis
- - Nail-patella syndrome (NPS) is a rare genetic disorder characterized by skeletal deformities and various other health issues, such as renal failure and heart problems.
- - A 17-year-old male patient exhibited multiple skeletal abnormalities, advanced renal failure, hypothyroidism, and dilated cardiomyopathy, leading to a clinical diagnosis of NPS supported by imaging and biopsy findings.
- - The association of dilated cardiomyopathy with NPS is not well-documented, highlighting the importance of a thorough evaluation due to the disorder's diverse systemic effects.
"Knee-Ding" a Diagnosis: A Case of Nail Patella Syndrome.
Cureus
November 2023
Graduate Medical Education, Internal Medicine, Community Memorial Hospital, Ventura, USA.
Article Synopsis
- - Nail Patella Syndrome (NPS) is a rare genetic disorder characterized by specific symptoms like abnormal fingernails, iliac horns, and limb issues, particularly affecting the development of the kneecaps, leading to instability and dislocations.
- - A case study of a 54-year-old woman highlights her lifelong struggle with NPS, showing how early intervention could have prevented her knee surgery at age 18 due to childhood injuries.
- - The report stresses the importance of recognizing NPS symptoms early, including mood disorders and physical signs, to reduce the risk of knee problems and the potential need for surgical treatments later in life.
Congenital Absence of Patella: A Case Report.
Cureus
November 2023
Pediatrics, Dr. D.Y. Patil Medical College, Hospital & Research Centre, Pune, IND.
Article Synopsis
- Congenital absence of patella is a rare orthopedic condition where the kneecap is underdeveloped or completely absent, often linked to other genetic syndromes.
- A case is presented involving an 18-month-old girl who was unable to stand or walk without support and had hyperextended knees, but no other abnormalities.
- The patient underwent active and resisted physiotherapy, which improved her condition significantly.
Nail-Patella Syndrome: A Case Series From Northern India.
Cureus
October 2023
Department of Orthopaedics, Government Medical College, Haldwani, Haldwani, IND.
Article Synopsis
- - Nail-patella syndrome (NPS) is a rare genetic disorder characterized by a specific combination of physical anomalies, including underdeveloped or missing fingernails, absent kneecaps, iliac horns, and elbow deformities.
- - The report discusses three cases of NPS that were diagnosed incidentally during medical examinations, with one involving a young girl who was receiving treatment for an unrelated abdominal issue, and her father also displaying similar symptoms.
- - Increased awareness and understanding of NPS are crucial for improving accurate diagnoses and contributing to the medical knowledge surrounding this condition.
Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report.
Mol Genet Genomic Med
January 2024
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, China.
Article Synopsis
- Congenital talipes equinovarus (CTEV) is a complex foot deformity influenced by genetic and environmental factors, often linked to disorders like nail-patella syndrome caused by mutations in the LMX1B gene.
- This study focused on a fetus diagnosed with CTEV via ultrasound, whose father had related symptoms, by analyzing the genetic variants through whole-exome sequencing.
- A novel harmful variant in the LMX1B gene was identified in both the fetus and father, suggesting a genetic link to the CTEV condition, providing new insights for genetic counseling.
De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype.
Clin Genet
February 2024
Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.
Article Synopsis
- Critical genes like LMX1B are crucial for embryonic development, specifically influencing the growth of limbs, eyes, and kidneys; mutations can lead to Nail-Patella syndrome.
- While most known genetic variants are found in the LMX1B coding sequence, about 5%-10% of individuals with Nail-Patella syndrome do not show any identifiable mutations in this area.
- This study highlights a family with four members affected by a de novo deletion in an upstream region that influences the LMX1B gene, showing symptoms primarily in nails and limbs, suggesting a milder form of the syndrome compared to the classic presentation that also includes eye and kidney issues.
Total Knee Arthroplasty Using Computer-Assisted Navigation in a Patient with Nail-Patella Syndrome: A Case Report.
JBJS Case Connect
July 2023
Orlando Orthopaedic Center, University of Central Florida College of Medicine, Orlando, Florida.
Article Synopsis
- * A patient with NPS underwent a computer-assisted total knee arthroplasty (TKA), facing some unique anatomical challenges during the surgery.
- * Although the patient developed complications like arthrofibrosis that required further intervention, they ultimately had a positive recovery, highlighting the importance of surgical precision in treating patients with NPS.