Dose matters: haploinsufficiency in osteogenesis imperfecta.

The clinical recognition, diagnosis and treatment of osteogenesis imperfecta: a case report and literature review.

The typical clinical symptoms, skeletal imaging features, and genetic test results of this patient ultimately confirmed the diagnosis of osteogenesis imperfecta and a multidisciplinary comprehensive individualized treatment plan was formulated and implemented for the patient, effectively alleviating clinical symptoms and improving the prognosis of the disease.

Osteogenesis Imperfecta from Historical Nosology to Gene-directed Therapy: A Critical Narrative Review of Mechanism, Evidence and Translational Uncertainty

Evaluating critically how historical nosology, molecular pathology and emerging gene-directed interventions relate to one another is evaluated, and to determine which conclusions the accessible evidence can currently sustain are evaluated.

A novel variant in MAFB in a patient with hereditary multicentric carpo-tarsal osteolysis

Osteopetrorickets and calcium homeostasis in children with osteopetrosis: an endocrinological single-center study

Background Osteopetrosis is a rare inherited disorder caused by impaired osteoclast number or function, leading to increased bone density, fractures, neurologic complications, and disturbances in calcium-phosphate homeostasis. This study aimed to describe the endocrine manifestations of childhood osteopetrosis, particularly osteopetrorickets, and to evaluate treatment responses and post-transplant calcium disorders. Methods We retrospectively reviewed 17 children diagnosed with osteopetrosis at a single tertiary center between 2015 and 2025. Clinical, biochemical, radiologic, genetic, and treatment data were analyzed. Results The median age at diagnosis was 14 months (range, 15 days–130 months), and short stature was observed in 13 of 17 patients (76.4%). Ophthalmologic abnormalities were present in 10 patients (58.8%), hearing loss in 7 patients (41.1%), and hepatosplenomegaly in 7 patients (41.1%). TCIRG1 was the most frequent mutation, followed by CLCN7, TNFSF11, TNFRSF11A, and CA2. Osteopetrorickets was identified in 13 of 17 patients (76.4%); among these patients, hypocalcemia occurred in 11 of 13, hypophosphatemia in 8 of 13, and vitamin D deficiency in 4 of 13. Generalized osteosclerosis was observed in all patients, whereas classic osteopetrosis-associated radiographic findings, including bone-in-bone appearance, sandwich vertebrae, and Erlenmeyer flask deformity, were identified only in a subset of patients. Hematopoietic stem cell transplantation was performed in 11 of 13 patients with osteopetrorickets. Four of these 11 patients died during the early post-transplant period. Among patients with osteopetrorickets who underwent hematopoietic stem cell transplantation (HSCT) (n=11), seven surviving patients achieved complete resolution of rickets (7/11, 63.6%), allowing discontinuation of replacement therapy within 15 days to 8 months. Post-transplant hypercalcemia developed in 4 of 13 transplant recipients (30.8%). Conclusions Osteopetrorickets is a frequent and clinically significant complication of pediatric osteopetrosis. Early recognition of mineral disturbances, genotype-based treatment planning, and close surveillance for rebound hypercalcemia after transplantation are essential to improve outcomes.

OSTEOGÊNESE IMPERFEITA ASSOCIADA À DENTINOGÊNESE IMPERFEITA: RELATO DE CASO

Osteogenesis imperfecta, also known as "brittle bone disease," is a hereditary condition resulting from alterations in the formation or quantity of type I collagen. This article aims to describe the dental care provided to a child with osteogenesis imperfecta associated with dentinogenesis imperfecta. A 3-year-old male patient presented to the pediatric clinic with a chief complaint of "toothache." Physical examination revealed short stature, motor impairment, and marked bowing deformities of the lower limbs. Intraoral examination showed geographic tongue, carious lesions on primary molars, and teeth with altered coloration (blue-gray hues) and a translucent appearance, consistent with a diagnosis of dentinogenesis imperfecta. Radiographic examination revealed bulbous crowns and cervical constriction at the cemento-enamel junction. The treatment plan included restoring the carious teeth and applying infrared laser photobiomodulation at 1 J. This case demonstrates the importance of multidisciplinary follow-up and long-term planning, reinforcing the dentist's role in promoting oral health and quality of life for patients with osteogenesis imperfecta. Dental alterations not only compromise aesthetics and function but can also negatively affect these individuals' quality of life and self-esteem. Therefore, dental care must be preventive, conservative, and tailored to the patient's specific needs.

Turner syndrome complicating osteogenesis imperfecta, thyroiditis and ankylosing spondylitis: a case report

Turner syndrome (TS) is a chromosomal disorder characterized by monosomy of the X chromosome (45,X0) or structural aberrations in one of the X chromosomes in individuals with a female phenotype. Osteogenesis imperfecta (OI), commonly known as brittle bone disease, results from genetic abnormalities that lead to altered metabolism, reduced quantity, or structural defects in type I collagen, ultimately causing abnormal bone architecture, recurrent fractures, and progressive skeletal deformities. We report a 27-year-old Chinese woman with TS (45,X0) and a history of osteoporosis and uveitis who presented with 11 years of low back pain and one month of bilateral ankle swelling. She had previously undergone spinal fixation and bilateral hip replacement. Examination revealed blue sclerae, height 132 cm, and weight 26 kg. Laboratory findings showed elevated erythrocyte sedimentation rate (ESR, 52 mm/hour) and C-reactive protein (CRP, 75.9 mg/L), positive HLA-B27, and elevated thyroid antibodies. Imaging revealed sacroiliitis on computed tomography and enthesitis on ankle magnetic resonance imaging (MRI). Genetic testing identified a heterozygous collagen type I α 1 chain (COL1A1) mutation and an Xp22.33-q28 deletion. She met the modified New York criteria for ankylosing spondylitis (AS). Treatment with adalimumab led to clinical improvement with decreased erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) after one month. This case highlights the rare co-occurrence of TS, OI, and AS, emphasizing the importance of genetic and rheumatologic evaluation in complex presentations. We recommend annual clinical assessment for inflammatory back pain and, when clinically indicated, sacroiliac imaging (such as MRI or X-ray) to facilitate early diagnosis and management of concurrent rheumatologic conditions.