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Transient Generalized Osteosclerosis in a Newborn Mimicking Congenital Osteopetrosis with Negative Comprehensive Genetic Workup: A Case Report.
J Pediatr Clin Pract
March 2024
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
We present a newborn with transient generalized osteosclerosis and negative genetic workup. The etiology of this condition is unknown. Given overlapping radiologic signs with severe forms of osteopetrosis, familiarity with this condition is crucial for correct diagnosis and management.
View Article and Find Full Text PDFOsteopetrosis and related osteoclast disorders in adults: A review and knowledge gaps On behalf of the European calcified tissue society and ERN BOND.
Eur J Med Genet
June 2024
Reference Center for Rare Bone Diseases and Department of Rheumatology, Hôpital Lariboisière, APHP, Université Paris Cité, Paris, France; INSERM UMR1132 BIOSCAR, Paris, France. Electronic address:
Osteopetrosis refers to a group of related rare bone diseases characterized by a high bone mass due to impaired bone resorption by osteoclasts. Despite the high bone mass, skeletal strength is compromised and the risk of fracture is high, particularly in the long bones. Osteopetrosis was classically categorized by inheritance pattern into autosomal recessive forms (ARO), which are severe and diagnosed within the first years of life, an intermediate form and an autosomal dominant (ADO) form; the latter with variable clinical severity and typically diagnosed during adolescence or in young adulthood.
View Article and Find Full Text PDFInfantile osteopetrosis with delayed development, organomegaly and wandering eyes: case report.
Paediatr Int Child Health
August 2024
Department of Paediatrics, St John's Medical College Hospital, Bangalore, India.
Osteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants and milder forms in older children. The clinical presentation includes failure to thrive, severe pallor, optic atrophy and hepatosplenomegaly.
View Article and Find Full Text PDFOsteopetrosis in the pediatric patient: what the radiologist needs to know.
Pediatr Radiol
June 2024
Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Riley Hospital for Children, 705 Riley Hospital Drive, Room 1053, Indianapolis, IN, 46202, USA.
Osteopetrosis describes several types of rare sclerosing bone dysplasias of varying clinical and radiographic severity. The classic autosomal dominant subtype emerges most often in adolescence but can present from infancy through adulthood. The autosomal recessive osteopetrosis, or "malignant infantile osteopetrosis," presents in infancy with a grimmer prognosis, though the autosomal dominant forms (often mislabeled as "benign") actually can have life-threatening consequences as well.
View Article and Find Full Text PDFGeneration of an induced pluripotent stem cell line (SYSUSCi004-A) from a patient with Infantile Malignant Osteopetrosis.
Stem Cell Res
April 2024
Shenzhen Qianhai Shekou Free Trade Zone Hospital, Shenzhen, Guangdong, China; Center for Stem Cells Translational Medicine, Shenzhen Qianhai Shekou Free Trade Zone Hospital, Shenzhen, Guangdong, China. Electronic address:
Infantile Malignant Osteopetrosis (IMO) is a rare, severe autosomal recessive form of osteopetrosis. Here, the peripheral blood mononuclear cells (PBMCs) extracted from a patient with IMO carrying a compound heterozygous mutation in T cell immune regulator 1, ATPase H + transporting V0 subunit a3 (TCIRG1) gene (c.242delC; c.
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