Osteopetrosis

Synonyms
Albers-Schönberg disease
Subtypes
Osteopetrosis intermediate form OPTA2
Osteopetrosis intermediate form OPTB6
Osteopetrosis intermediate form osteoclast-poor
Osteopetrosis late-onset form type 1
Osteopetrosis late-onset form type 2
Osteopetrosis moderate form with defective leucocyte adhesion
Osteopetrosis with infantile neuroaxonal dysplasia
Osteopetrosis with renal tubular acidosis
May Cause
Absent paranasal sinus
Acro-osteolysis
Acro-osteosclerosis
Anemia
Arterial occlusion
Basilar invagination
Bone-in-bone vertebra
Bone-within-a-bone appearance
Bowed bones
Broad tubular bones
Calvarial hyperostosis
Choanal atresia
Choanal stenosis
Clavicular lesion in an infant or child
Cone-shaped epiphysis
Congenital coxa vara
Congenital hepatomegaly
Congenital macrocephaly
Congenital splenomegaly
Congenital vertebral abnormality
Congenital widespread osteosclerosis
Congenitally abnormal pelvis
Cortical bone thickening
Coxa valga
Coxa vara
Cranial nerve paresis or paralysis
Craniosynostosis
Craniotubular dysplasia
Deafness
Defective dentition
Delayed dentition
Delayed tooth eruption
Dense or thick skull
Dense subchondral zone of vertebra
Dense temporal bone lesion
Densely sclerotic vertebra
Dental defect
Diffusely dense calvarium
Diffusely dense skull base
Epiphyseal necrosis
Erlenmeyer flask deformity
Exophthalmos
External auditory canal stenosis
External ear malformation
Extraorbital extracranial lesion extending to the orbit
Flaring of ribs
Fragmented, irregular, or sclerotic carpal or tarsal bones
Frontal bossing
Hydrocephalus
Hydrops fetalis
Hyperphosphatasemia
Hyperphosphatemia
Hypertelorism
Hypocalcemia
Hypophosphatemia
Hypoplastic paranasal sinus
Hypoplastic terminal phalanges
Ichthyosis
Increased risk of neoplasm
Inner ear anomaly
Large anterior canal of a vertebral body
Lethal skeletal dysplasia
Macrocephaly
Malformed orbit
Middle ear anomaly
Multiple fractures
Multiple opaque jaw lesions
Multiple sclerotic foci in an infant or child
Narrowed superior orbital fissure
Orbital wall sclerosis
Osteosclerosis
Otosclerosis
Pathologic fracture
Polyostotic bone lesions in an infant or young child
Pseudoarthrosis
Pseudofracture
Radiolucent metaphyseal bands
Retinopathy
Rib lesion in a child
Rickets
Sclerosing bone dysplasia
Sclerosis of the orbital roof
Small optic canal
Small orbit
Splenomegaly
Split cortex
Symmetrical anterior rib flaring
T1-hypointense diffuse vertebral body abnormality
Thick ribs
Thick skull
Thick tubular hand bones
Thrombocytopenia
Transverse dense metaphyseal bands
Underdeveloped mastoid
Underdevelopment of mastoids
Unilateral exophthalmos
Wide diametaphysis
Wide metaphysis
Widespread osteosclerosis
Widespread osteosclerosis of medullary and cortical bone
May Be Caused by
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Osteopetrosis - hypogammaglobulinemia