Related Experiment Videos
[Hajdu-Cheney Syndrome: a case of acroosteolysis]
I Cunha1, M J Saavedra, M Alexandre Oliveira
1Interna do Internato Complementar de Reumatologia do Servico de Reumatologia do Hosipitais da Universidade de Coimbra, Portugal. mariainescunha@gmail.com
Abstract:
Acroosteolysis is a rare clinical manifestation characterized by bone resorption of the terminal phalanges. It can occur in association with the variety of systemic diseases or be idiopathic. The authors describe a case of 47-year-old woman with acroosteolysis of distal phalanges since childhood, congenital amaurosis, premature loss of teeth and mal perforans. Because of the rate and exuberant manifestations found, with no etiological cause identified, the authors diagnosed Hajdu-Cheney Syndrome. Hajdu-Cheney is a rare, autosomal dominant disorder, with sporadic cases, apparently representing new mutations. Based on this case the authors review the differential diagnoses of acroosteolysis and the clinical manifestation of the Hajdu-Cheney syndrome
Related Concept Videos
Cushing Syndrome II: Pathophysiology
Cholecystitis
Acute Pancreatitis II: Pathophysiology
Huntington Disease l: Introduction
Bone Disorders
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...
Lethal Alleles
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...