Albers-Schönberg disease


osteopetrosis

 [os″te-o-pĕ-tro´sis] a rare hereditary, congenital condition in which there are bandlike areas of condensed bone at the epiphyseal lines of long bones and condensation of the edges of smaller bones. Fractures occur frequently and deformities of the head, chest, or spine develop. There is no treatment and the prognosis is unfavorable. There may be obliteration of the marrow spaces, causing anemia. Called also Albers-Schönberg disease and marble bones.

os·te·o·pe·tro·sis

(os'tē-ō-pe-trō'sis), [MIM*166600] Excessive formation of dense trabecular bone and calcified cartilage, especially in long bones, leading to obliteration of marrow spaces and to anemia with myeloid metaplasia and hepatosplenomegaly beginning in infancy, to bone fragility, and to progressive deafness and blindness; autosomal dominant inheritance. There are also autosomal recessive forms, which may be mild [MIM*259710], severe [MIM*259700], or lethal [MIM*259720], and sometimes involve a renal tubular defect [MIM*259730]. A milder, autosomal dominant form has onset in childhood and no neurologic sequelae. Synonym(s): Albers-Schönberg disease, marble bone disease, marble bones [osteo- + G. petra, stone, + -osis, condition]
An autosomal recessive form [MIM259700] of early onset osteopetrosis with failure to thrive, bone fragility, multiple fractures, osteomyelitis and other infections, proptosis, blindness, deafness and hydrocephalus due to bony overgrowth of cranial foramina; replacement of bone marrow evokes extramedullary haematopoiesis in the liver and spleen, causing hepatosplenomegaly
Autosomal dominant form is MIM 166600
Lab Increased acid and alkaline phosphatases, decreased Ca2+, pancytopenia, defective T cell functions

os·te·o·pe·tro·sis

(os'tē-ō-pĕ-trō'sis) Excessive formation of dense trabecular bone and calcified cartilage, especially in long bones, leading to obliteration of marrow spaces and to anemia, with myeloid metaplasia and hepatosplenomegaly, beginning in infancy and with progressive deafness and blindness.
Synonym(s): Albers-Schönberg disease. [osteo- + G. petra, stone, + -osis, condition]

Albers-Schonberg disease

See OSTEOPETROSIS.

Albers-Schönberg,

Heinrich Ernst, German radiologist, 1865-1921. Albers-Schönberg disease - excessive formation of dense trabecular bone and calcified cartilage. Synonym(s): osteopetrosis

os·te·o·pe·tro·sis

(os'tē-ō-pĕ-trō'sis) [MIM*166600] Excessive formation of dense trabecular bone and calcified cartilage, especially in long bones, leading to obliteration of marrow spaces and to anemia with myeloid metaplasia and hepatosplenomegaly beginning in infancy. [osteo- + G. petra, stone, + -osis, condition]