Infantile or Malignant osteopetrosis is a rare congenital disorder of bone resorption. It is caused by failure of osteoclasts to reabsorb immature bone. Severe infantile or malignant osteopetrosis present at birth or develops within the first few months of life. We are reporting here a case of two siblings with malignant osteopetrosis. Prominent clinical features included marked pallor, noisy r...

Osteopetrosis is a rare genetic condition of reduced osteoclastic bone resorption which causes defective bone remodeling and skeletal sclerosis during growth, having effects on many organs and tissues. Mutation of T-cell immune regulator 1 (TCRG1) gene is the most common genetic defect leading to osteopetrosis, with poor prognosis. The autosomal recessive form presents in the infantile period (...

Osteopetrosis represents a heterogeneous group of rare, hereditary bone dysplasias that share the hallmark of increased bone density caused by osteoclast dysfunction. It can manifest through a spectrum of symptoms and severity, from neonatal onset with life-threatening complications ("malignant" autosomal recessive osteopetrosis) to two more benign conditions with the incidental radiographic fi...

OBJECTIVE The purpose of this study was to determine if the generalized osteosclerosis seen on skeletal radiographs of patients with osteopetrosis is associated with an increase in bone density. SUBJECTS AND METHODS Five children (three girls, two boys, 6-12 years old) with autosomal dominant osteopetrosis who had sustained a fracture with minimal trauma had the density and area of cortical b...

Introduction: Maxillary osteomyelitis is a rare phenomenon. If it occurs, evaluation for underlying disease especially osteopetrosis must be considered. Osteomyelitis occurs as a complication in 10% of the cases of osteopetrosis. Case report: This is a case report of maxillary osteomyelitis presented in a 15-year old boy with osteopetrosis. In this case, the disease represented mainly with faci...

Introduction: Maxillary osteomyelitis is a rare phenomenon. If it occurs, evaluation for underlying disease especially osteopetrosis must be considered. Osteomyelitis occurs as a complication in 10% of the cases of osteopetrosis. Case report: This is a case report of maxillary osteomyelitis presented in a 15-year old boy with osteopetrosis.  In this case, the disease represented mainly with ...

Osteopetrosis is a rare genetic condition of reduced osteoclastic bone resorption which causes defective bone remodeling and skeletal sclerosis during growth, having effects on many organs and tissues. Mutation of T-cell immune regulator 1 (TCRG1) gene is the most common genetic defect leading to osteopetrosis, with poor prognosis. The autosomal recessive form presents in the infantile period (...

BACKGROUND Osteopetrosis is a rare genetic disorder characterized by increased bone density due to a defective osteoclast's bone resorption. Three clinical forms can be identified based on severity, age of onset and inheritance: the dominant benign form (ADO), the intermediate form (IRO) and the recessive severe form (ARO). Several genes have been involved in the pathogenesis of these different...

Osteopetrosis (OP) variably referred to as ‘Marble bone disease’ or ‘Albers Schonberg disease’ was first described by a German radiologist in 1904. It is a group of genetically and clinically heterogeneous disorders characterized by increased skeletal density. Clinical severity varies from asymptomatic adults to a life-threatening condition in infants. Autosomal recessive osteopetrosis has an i...