Cargando…

Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl

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 disease is caused by heterozygous pathogenic vari...

Descripción completa

Detalles Bibliográficos
Autores principales:	Hou, Ling, Du, Yue, Wu, Yubin, Zeng, Yue, Zhao, Chengguang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8236592/ https://www.ncbi.nlm.nih.gov/pubmed/34195159 http://dx.doi.org/10.3389/fped.2021.638630

Ejemplares similares

Novel TBC1D8B Variant in a 6-Month-Old Boy With Steroid-Sensitive Nephrotic Syndrome: A Case Report
por: Hou, Ling, et al.
Publicado: (2021)

Leucoma of the Vulva
Publicado: (1901)

Tattooing of the Cornea with Platinum Chloride Solution for Leucoma
por: Banaji, B. P.
Publicado: (1929)

Optical coherence tomography angiography in herpetic leucoma
por: Almeida, Inês, et al.
Publicado: (2022)

Case report: Thyroid storm in a three-year-old girl presenting with febrile status epilepticus and hypoglycemia
por: Aoki, Yusuke, et al.
Publicado: (2023)

Fever of Unknown Origin in a 17-Year-Old Girl
por: Okuducu, Yanki K, et al.
Publicado: (2020)

Nail-patella syndrome
por: Kundu, Zile Singh, et al.
Publicado: (2018)

Study on the relationship between nephrotic syndrome and atopic diseases in childhood
por: Zheng, Yue, et al.
Publicado: (2022)

Sarcoidosis with Arteriovenous Malformation in a 15-Year-Old Girl – The Rarest of the Rare
por: Qaiser, Iman, et al.
Publicado: (2015)

Recurrent Febrile Urinary Tract Infections in a Five-Year-Old Girl
por: AbdelAziz, Hesham H, et al.
Publicado: (2021)

Patellar Sleeve Fracture in an Eight-Year-Old Girl
por: Boushnak, Mohammad O, et al.
Publicado: (2020)

Group A Streptococcal Pyomyositis in a Previously Healthy Six-year-old Girl
por: Tawfik, Daniel, et al.
Publicado: (2018)

Acalculous Cholecystitis in a Seven-Year-Old Girl With Epstein-Barr Virus Infection
por: Rein, Jeffrey, et al.
Publicado: (2021)

Pediatric Lupus Presenting as Pulmonary Hypertension, Myocarditis, and Massive Pericardial Effusion in an 11-Year-Old Girl: A Case Report and Literature Review
por: Chen, Yu-Jhen, et al.
Publicado: (2022)

Case Report: Ultrasound-Guided Percutaneous Microwave Ablation of Focal Nodular Hyperplasia in a 9-Year-Old Girl
por: Yao, Zhiguang, et al.
Publicado: (2021)

A 12-year-old Somalian girl presented with chronic kidney disease and died as a result of female genital mutilation- A case report
por: Hussein, Ahmed Issak, et al.
Publicado: (2023)

Artificial Pupil in a Case of Leucoma Complicated with Partial Staphyloma of the Cornea
por: Odevaine, F.
Publicado: (1880)

Yolk Sac Tumor in an Eight-Year-Old Girl: A Case Report and Literature Review
por: Chen, Li Hsun, et al.
Publicado: (2019)

Case Report: DRESS Syndrome Induced by Two Antituberculosis Drugs in an 8-Year-Old Girl
por: Urbonas, Vaidotas, et al.
Publicado: (2022)

12-Year-Old Girl Diagnosed With Li-Fraumeni Syndrome and Concomitant Adrenocortical Carcinoma (ACC)
por: Donato, Umberto M, et al.
Publicado: (2022)

Case report: Unilateral pulmonary artery agenesis and Kommerell's diverticulum in 1-year old girl
por: Miseviciene, Valdone, et al.
Publicado: (2023)

Kidney disease in nail–patella syndrome
por: Lemley, Kevin V.
Publicado: (2008)

Retrospective Diagnosis of Nail-patella Syndrome
por: Virani, Zaheer A., et al.
Publicado: (2021)

A 3-Year-Old Girl with Recurrent Infections and Autoimmunity due to a STAT1 Gain-of-Function Mutation: The Expanding Clinical Presentation of Primary Immunodeficiencies
por: Aldave Becerra, Juan Carlos, et al.
Publicado: (2017)

Osteomyelitis of the Patella in a 10-Year-Old Girl: A Case Report and Review of the Literature
por: Sperl, Matthias, et al.
Publicado: (2017)

Robotic repair of congenital vesicovaginal fistula masquerading as a ureterocele in a 10-year-old girl
por: Wong, Yuenshan Sammi, et al.
Publicado: (2018)

Case Report: Locking Plate for Cubitus Varus Correction in a 7-Year-Old Girl With Osteogenesis Imperfecta
por: Hong, Pan, et al.
Publicado: (2022)

Case report: Leukemia cutis as the first manifestation of chronic neutrophilic leukemia in a 6-year-old girl
por: Zhou, Ya Bin, et al.
Publicado: (2022)

A hypoplastic patella fracture in nail patella syndrome: a case report
por: Neill, Shane C O, et al.
Publicado: (2012)

17-Month-Old Girl With Severe, Prolonged Lethargy and Somnolence
por: Lure, Allison C, et al.
Publicado: (2021)

Case Report: Intermittent Chest Pain With Cough, Fever, and Pericardial Effusion Over the Course of 1 Year in an 11-Year-Old Girl
por: Chen, Jing, et al.
Publicado: (2022)

Odontogenic Cutaneous Sinus Tract in a 10-Year-Old Girl: A Case Report of a Rare Entity
por: Hanaki, Shojiro, et al.
Publicado: (2023)

Case report: Miliary tuberculosis complicated by pediatric acute respiratory distress syndrome in a 12-year-old girl
por: Zhu, Jiarui, et al.
Publicado: (2023)

How are podocytes affected in nail–patella syndrome?
por: Witzgall, Ralph
Publicado: (2008)

Clinico-Genetic Study of Nail-Patella Syndrome
por: Lee, Beom Hee, et al.
Publicado: (2009)

Arthropathy and proteinuria: nail-patella syndrome revisited
por: Albishri, Jamal
Publicado: (2014)

Bilateral Knee Septic Arthritis in a Seven-Month-Old Girl
por: Boeisa, Ahmad N, et al.
Publicado: (2023)

Case Report: Ascending Aortic Pseudo-Aneurysm Following Ventricular Septal Defect Repair in a 4-Year-Old Girl
por: Li, Xinya, et al.
Publicado: (2021)

Fulminant Infective Endocarditis Due to Kingella Kingae and Several Complications in a 6-Year-Old Girl: A Case Report
por: Joye, Raphael, et al.
Publicado: (2021)

The complete mitochondrial genome of a satin moth: Leucoma chrysoscela (Lepidoptera: Erebidae, Lymantriinae)
por: Li, Jing, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_mum9r9v3ri8ct9aahqva0ntpiq