Medicine:Familial osteodysplasia, Anderson type
| Familial osteodysplasia, Anderson type | |
|---|---|
| Specialty | Medical genetics |
| Types | It is a type of osteodysplasia, and it doesn't have any subtypes itself. |
| Prevention | None |
| Prognosis | Good |
| Frequency | very rare, only 6 cases have been reported in medical literature. |
Familial osteodysplasia, Anderson type is a rare genetic disorder which is characterized by cranio-facial dysmorphisms and multiple skeletal anomalies. Hyperuricemia, hypertension and high erythrocyte sedimentation rates have also been reported.[1] Approximately 6 cases have been reported in medical literature.[2] This disorder is thought to be inherited in an autosomal recessive manner.[3]
Description
People with this disorder often show the following symptoms:[4]
Craniofacial
- Underdevelopment of midface
- Flat, broad nasal bridge
- Thin, prognathic mandible
- Pointy chin
- Malocclusion
- Underdeveloped teeth
Skeletal
- Scoliosis
- Thinning of the calvaria
- Pointy spinous processes
- Clinodactyly
- Phalangeal dysplasia
Additional symptoms include hyperuricemia, high erythrocyte sedimentation rates and hypertension.
Etimology
This condition was first discovered in 1972 by L G Anderson et al. and J S Buchignani et al. described the case of 5 siblings and their dad, 4 out of the 5 siblings had recurrent mandibular fractures and cranio-facial dysmorphisms, such as prominent earlobes. These 4 siblings also had hyperuricemia and 3 out of those 4 siblings had hypertension. Their father had hyperuricemia and hypertension but was otherwise unaffected. The siblings were the result of consanguineous Irish parents.[5][6]
References
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Familial osteodysplasia, Anderson type" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2769.
- ↑ "OMIM Entry - % 259250 - OSTEODYSPLASIA, FAMILIAL, ANDERSON TYPE" (in en-us). https://omim.org/entry/259250#2.
- ↑ Anderson, Larry G.; Cook, Albert J.; Coccaro, Peter J.; Coro, Carlos J.; Bosma, James F. (1972-06-26). "Familial Osteodysplasia". JAMA 220 (13): 1687–1693. doi:10.1001/jama.1972.03200130021004. ISSN 0098-7484. https://doi.org/10.1001/jama.1972.03200130021004.
- ↑ "Osteodysplasia familial Anderson type - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/4136/osteodysplasia-familial-anderson-type.
- ↑ Anderson, L. G.; Cook, A. J.; Coccaro, P. J.; Coro, C. J.; Bosma, J. F. (1972-06-26). "Familial osteodysplasia". JAMA 220 (13): 1687–1693. ISSN 0098-7484. PMID 5067603. https://pubmed.ncbi.nlm.nih.gov/5067603/.
- ↑ Buchignani, J. S.; Cook, A. J.; Anderson, L. G. (November 1972). "Roentgenographic findings in familial osteodysplasia". The American Journal of Roentgenology, Radium Therapy, and Nuclear Medicine 116 (3): 602–608. doi:10.2214/ajr.116.3.602. ISSN 0002-9580. PMID 4641184. https://pubmed.ncbi.nlm.nih.gov/4641184/.
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