Severe hemolytic in Basenji dogs secondary to pyruvate kinase deficiency was corrected by marrow transplantation from hematologically normal littermates. These dogs have now been followed for more than 5.5 yr. Essentially normal hematopoiesis has persisted, and the dogs remain in good health without cirrhosis or osteosclerosis. Furthermore, hepatic iron overload present before transplantation h...

Pyknodysostosis is an autosomal-recessive disorder of osteoclast dysfunction causing osteosclerosis, with associated maxillofacial anomalies. Multidetector CT with multiplanar and 3D reconstruction illustrated the pathologic findings in this case. Abnormalities included multiple retained deciduous teeth, unerupted teeth with associated follicles, an irregularly expanded alveolus and body of the...

Pycnodysostosis is an uncommon autosomal recessive sclerosing bone disorder which is characterized by short stature and generalized diffuse osteosclerosis. Patients usually have a large head with separated sutures, open fontanels, aplasia of frontal sinuses, obtuse mandibular gonial angle, and acroosteolysis of the distal phalanges. This case report showed a 25-year-old female with features pat...

Osteopetrosis is one cause of osteosclerosis and may result in such serious oral complications as osteomyelitis and exposed necrotic bone. Dentists should be aware of patients with the disease because of its effect on osteoclast function, which results in impaired wound healing. The purpose of this paper is to review the causes, pathogenesis and differential diagnosis of osteopetrosis and to pr...

Osteopetrosis, or Albers-Schönberg disease, is a rare hereditary disease characterized by osteoclast dysfunction and consequent diminished bone resorption and disturbed bone building and remodeling, resulting in abnormally dense and brittle bones. Bone marrow failure, pathologic fractures, and neurologic deficits are common. Osteopetrosis is diagnosed on radiographs. Patients have generalized o...

Pycnodysostosis is a rare systemic bone disease whose cardinal features are generalized osteosclerosis and dwarfism. Characteristic skeletal defomities ensue, such as failure of closure of cranial sutures, obliquity of the mandibular angle, and defects of the terminal phalanges. This disease is suspected to be congenital heredity. In this report, a case of pycnodysostosis of a 20-year-old man w...