Osteopoikilosis
Exostoses, Multiple Hereditary
Epidemiological, clinical and radiological aspects of osteopoikilosis. (1/6)
Osteopoikilosis is a rare condition showing characteristic sclerotic lesions on radiographic examination, which are diagnostic for the trait. We report four patients presenting with various complaints and 49 members of their families who later were found to have osteopoikilosis. The mean age of all 53 was 27.5 years and the male:female ratio was 33:20. Most had lesions in the small tubular bones. We studied the epidemiological, clinical and radiological features of these patients and from the pedigrees conclude that the disease is inherited as an autosomal dominant. (+info)Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. (2/6)
This report presents the detection of a heterozygous deletion at chromosome 12q14 in three unrelated patients with a similar phenotype consisting of mild mental retardation, failure to thrive in infancy, proportionate short stature and osteopoikilosis as the most characteristic features. In each case, this interstitial deletion was found using molecular karyotyping. The deletion occurred as a de novo event and varied between 3.44 and 6 megabases (Mb) in size with a 3.44 Mb common deleted region. The deleted interval was not flanked by low-copy repeats or segmental duplications. It contains 13 RefSeq genes, including LEMD3, which was previously shown to be the causal gene for osteopoikilosis. The observation of osteopoikilosis lesions should facilitate recognition of this new microdeletion syndrome among children with failure to thrive, short stature and learning disabilities. (+info)A cause for concern? Osteopoikilosis found incidentally in the emergency department: a case report. (3/6)
Osteopoikilosis is a rare, inherited bone disorder, which is usually found incidentally on x ray. It may be mistaken for other, more serious disorders such as bony metastases, causing undue distress to the doctor and patient. (+info)Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis. (4/6)
(+info)Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family. (5/6)
(+info)A rare benign disorder mimicking metastasis on radiographic examination: a case report of osteopoikilosis. (6/6)
(+info)Osteopoikilosis is a rare, benign skeletal dysplasia characterized by multiple small, dense spots of sclerotic bone (osteosclerosis) in the spongy part (trabecular) of the bones. These spots are most commonly found in the short tubular bones of the hands and feet, as well as the long bones such as the femur and tibia. The condition is usually asymptomatic and discovered incidentally on X-ray or CT scan. It is typically present at birth or appears in early childhood, and it affects both sexes equally. Osteopoikilosis can be associated with other bone disorders, such as melorheostosis and Buschke-Ollendorff syndrome.
Multiple hereditary exostoses (MHE) is a genetic condition characterized by the growth of multiple benign tumors known as osteochondromas. These tumors typically develop at the ends of long bones near the growth plates and can cause various skeletal deformities, limitations in mobility, and other health issues.
MHE is usually inherited in an autosomal dominant pattern, meaning that a child has a 50% chance of inheriting the condition if one parent has it. However, some cases may result from spontaneous mutations. The condition typically becomes apparent during childhood or adolescence and can affect both sexes equally.
The primary diagnostic feature of MHE is the presence of multiple osteochondromas, which are made up of bone and cartilage. These growths can cause a range of symptoms, including pain, swelling, decreased mobility, and an increased risk of fractures. In some cases, they may also lead to complications such as nerve compression or vascular damage.
Treatment for MHE typically involves surgical removal of the osteochondromas, particularly if they are causing significant symptoms or complications. Regular monitoring is also important to detect any new growths and assess their potential impact on health. In addition, physical therapy and other supportive measures may be recommended to help manage symptoms and maintain mobility.
Human chromosome pair 12 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.
Chromosomes come in pairs, with one chromosome inherited from each parent. In humans, there are 23 pairs of chromosomes, for a total of 46 chromosomes in each cell. Chromosome pair 12 is the 12th pair of autosomal chromosomes, meaning they are not sex chromosomes (X or Y).
Chromosome 12 is a medium-sized chromosome and contains an estimated 130 million base pairs of DNA. It contains around 1,200 genes that provide instructions for making proteins and regulating various cellular processes. Some of the genes located on chromosome 12 include those involved in metabolism, development, and response to environmental stimuli.
Abnormalities in chromosome 12 can lead to genetic disorders, such as partial trisomy 12q, which is characterized by an extra copy of the long arm of chromosome 12, and Jacobsen syndrome, which is caused by a deletion of the distal end of the long arm of chromosome 12.