Absence deformity of leg-cataract syndrome
| Absence deformity of leg-cataract syndrome | |
|---|---|
 | |
| Specialty | Medical genetics |
| Complications | Vision impairment |
| Causes | Genetic mutation |
| Prevention | none |
| Prognosis | Medium, nearing bad |
| Frequency | very rare, only 2 cases have been described |
| Deaths | - |
Absence deformity of leg-cataract syndrome is a very rare genetic limb malformation which is characterized by unilateral absence deformity, scoliosis, low stature, and optic nerve dysplasia-associated congenital cataract.[1] It has been described in two distantly related kin of Amish descent.[2][3]
References
[edit]- ^ "Orphanet: Absence deformity of leg cataract syndrome". www.orpha.net. Retrieved 2022-06-10.
- ^ "OMIM Entry - % 246000 - LEG, ABSENCE DEFORMITY OF, WITH CONGENITAL CATARACT". omim.org. Retrieved 2022-06-10.
- ^ McKusick, V. A.; Weilbaecher, R. G.; Gragg, G. W. (1968-04-08). "Recessive inheritance of a congenital malformation syndrome: unilateral absence deformity of leg and congenital cataracts". JAMA. 204 (2): 113–118. doi:10.1001/jama.1968.03140150017004. ISSN 0098-7484. PMID 5694533.
External links
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