Clinical features, genetic analysis, and efficacy evaluation of hematopoietic stem cell transplantation in a case of osteopetrosis caused by compound heterozygous variations in the TNFRSF11A gene: a case study.

Abstract excerpt

Osteopetrosis is an uncommon inherited skeletal condition arising from impaired osteoclast activity, with its autosomal recessive forms being linked to mutations in the TNFRSF11A gene. This study reports on a three-year-old Chinese girl presenting with recurrent fractures, short stature, and macrocephaly. Radiological examinations revealed diffusely elevated bone mineral density and constricted medullary spaces....

Topics

• Humans
• Osteopetrosis
• Female
• Hematopoietic Stem Cell Transplantation
• Receptor Activator of Nuclear Factor-kappa B