Case Reports in Dentistry / 2013 / Article / Tab 1

Case Report

Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report

Table 1

Summary of the key clinical manifestations, onset, severity, treatment, prognosis, and recurrence risks of the main types of osteopetrosis.

Autosomal recessive osteopetrosis (ARO)
Osteopetrosis subtypeX-linked osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency (OLEDAID)Intermediate osteopetrosis (IRO)Autosomal dominant osteopetrosis (Alber’s Schönberg disease)
ClassicNeuropathicARO with RTA

Genetic basisTCIRGCLCN7, OSTM1Carbonic anhydrase IIIKBKG (NEMO)CLCN7, PLEKHM1CLCN7

Skeletal manifestations                     Increased bone density, diffuse and focal sclerosis of varying severity
                    Modelling defects at metaphyses
                    Pathologic fractures
                    Dental abnormalities: tooth eruption defects and dental caries

Other manifestationsPancytopenia, extramedullary hematopoiesis, hepatosplenomegaly, cranial nerve compression (II, VII, and VIII), hydrocephalus, and hypocalcemiaAs for classic ARO, but primary neurodegeneration, including retinal atrophyRenal tubular acidosis, developmental delay, intracranial calcification, cranial nerve compression, and rare bone marrow impairement Anhidrotic ectodermal dysplasia, lymphedema, and immunodeficiency resulting in overwhelming infectionAnaemia and extramedullary hematopoiesis, occasional optic nerve compressionModerate haematological failure, cranial nerve compression

OnsetPerinatalPerinatalInfancyInfancyChildhoodLate childhood or adolescence

SeveritySevereSevereModerateSevereMild to moderateMild to moderate, occasionally

May benefit from HSCT

Fatal in Infancy
Fatal in Infancy
Fatal in early childhood
VariableNormal life expectancy

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