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Vara Deformity and Subluxed Humeral Heads: An Unusual Sign in Pseudohypoparathyroidism.
Cureus
January 2024
Radiology, Nemours Children's Health System, Orlando, USA.
Pseudohypoparathyroidism is a rare disorder characterized by end-organ resistance to intact parathyroid hormone (PTH) and concomitant laboratory findings of hypocalcemia and hyperphosphatemia. Radiologic evidence of the disease may manifest as a variety of bone abnormalities. This case describes an 11-year-old female with a history of repaired bilateral slipped capital femoral epiphysis who presented with a limited range of motion of the bilateral upper extremities.
View Article and Find Full Text PDFPrimary hyperphosphatemic tumoral calcinosis: a case report.
Osteoporos Int
January 2022
Department of Orthopedics, Guangzhou Red Cross Hospital, Jinan University, Guangzhou, China.
Tumoral calcinosis (TC) is a rare disease characterized by periarticular soft tissue calcification. Some cases were reported in Africa and the Middle East. We report an 11-year-old Chinese girl presenting with recurrent multiple subcutaneous masses around the right elbow and hip regions.
View Article and Find Full Text PDFBilateral Transcervical Femur Neck Fracture in a Case of Pseudohypoparathyroidism: A Rare Case Report and Review of Literature.
J Orthop Case Rep
October 2020
Department of Orthopedics, Seth Gordhandas Sunderdas Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India.
Introduction: Pseudohypoparathyroidism (PHP) is an uncommon metabolic bone disorder characterized by biochemical hypocalcemia, hyperphosphatemia and raised parathyroid hormone (PTH), and target tissue unresponsiveness to the biological actions of PTH. In addition, many patients with PHP exhibit a distinctive constellation of developmental and skeletal defects.
Case Report: An 11-year-old girl was brought to emergency pediatric department for the assessment of fever with generalized tonic-clonic seizure (GTCS) with inability to walk.
Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis.
Turk J Pediatr
January 2020
Department of Pediatric, School of Medicine, The University of Jordan, Jordan, Amman.
Albaramki J, Dmour H, Shboul M, Bonnard C, Venkatesh B, Odeh R. Recessive mutation in GALNT3 causes hyperphosphatemic familial tumoral calcinosis associated with chronic recurrent multifocal osteomyelitis. Turk J Pediatr 2019; 61: 130-133.
View Article and Find Full Text PDFHyperphosphatemia in an 11-year-old girl with acute myeloid leukemia: Answers.
Pediatr Nephrol
April 2019
Amsterdam UMC, Department of Pediatric Oncology, Vrije Universiteit Amsterdam, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.
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