A mild autosomal recessive form of osteopetrosis

Abstract

We report on four individuals in one kindred with relative or absolute short stature; increased upper/lower segment ratio with decreased arm span; mandibular prognathism and dental abnormalities; fractures following minimal trauma; mild to moderate anemia with extramedullary hematopoiesis; and radiographic changes of osteopetrosis, including sclerosis of the cranial base, generally increased bone density, sclerosis of the vertebral end plates, and transverse bands and poor diaphyseal modelling of the long bones. There is intrafamilial variability of clinical and radiographic findings in individuals with this mild, autosomal recessive form of osteopetrosis. We summarize ten families from the literature, which include 18 cases of mild recessive osteopetrosis. The manifestations of many are similar to those of the individuals reported here. Two other types of recessive osteopetrosis have been reported previously: osteopetrosis associated with renal tubular acidosis, and severe osteopetrosis with hepatosplenomegaly, pancytopenia, and early death. Autosomal dominant osteopetrosis is variable but usually mild. Pedigree analysis is currently the only reliable method of determining the pattern of inheritance in mild osteopetrosis.

Osteomyelitis of the Mandible in a Patient with Osteopetrosis. Case Report and Review of the Literature

“…There are three clinically distinct forms of autosomal recessive osteopetrosis (ARO) [32]. The most common ARO (also called the malignant type) [33], has severe manifestations, and presents in the infantile age group, presumably due to mutations either in the TCIRG1 gene which encode for the a3 subunit of the vacuolar H(?…”

“…Of the 18 affected family members in 11 families with this form reported so far, many children were asymptomatic with only radiographical disease. In many of these cases, there was parental consanguinity [31,32].…”

Clinical considerations for prosthodontic rehabilitation of intermediate form of osteopetrosis: A report of two cases

“…The rudimentary tooth was not extracted as chances of infection after extraction and fracture of jaw bone during extraction are common. 6 Removable prosthesis without any soft liner was given to the patient as soft liners need replacement at required time intervals to maintain their effectiveness and infection free state. But it is difficult for such patients to frequently visit hospital because of bone pains and increased tendency of fracture of long bones.…”

“…2 A rare "intermediate form" presents during childhood with some signs and symptoms of malignant osteopetrosis. 6 Affected individuals have a short stature, and are often asymptomatic at birth, but frequently exhibit fractures by the end of their 1st decade of life.…”

Multimodality Imaging of Osteopetrosis

“…[1][2][3][4][5] Plain radiography and sectional imaging in particular magnetic resonance imaging (MRI) plays important role in the diagnosis of the osteopetrosis and its subtypes. 6,7,8 CASE REPORT: A seven year old male child from a family of lower socio-economic group with a history of abdominal distension and fever since three months and a clinical diagnosis of thalassemia major referred for further investigation to the department of Radiology of Vydehi hospital.…”