| Banki syndrome | |
|---|---|
| Other names | Fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis) |
Banki syndrome is a rare disorder in which two or more bones are fused. The symptoms may include: abnormality of the long bone of hand; short fingers or toes; permanent curving of the pinkie finger; fusion of wrist bones. The disorder has been reported in three generations of a single Hungarian family. [1] [2] First described by Z. Banki in a 1965 paper, [3] it has been noted as being similar to Liebenberg syndrome, featuring lunatotriquetral fusion of the lunate bone with the triquetral bone, clinodactyly of the fingers, overall short metacarpals, and thin diaphysis of the longer bones, but unlike Liebenberg, no elbow dysplasia is observed. [4] [5]
Sources
This article incorporates
public domain material from
Banki Syndrome.
National Institutes of Health.References
- ^ "Banki syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-03-20.
- ^ McKusick, Victor Almon; Osler, William (1983). Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes. Johns Hopkins University Press. p. 60. ISBN 9780801827440.
- ^ Banki, Z (1965). "Kombination erblicher Gelenk- und Knochenanomalien an der Hand Zwei neue Röntgenzeichen" [Combination of hereditary joint and bone abnormalities in the hand with two new x-ray signs]. RöFo: Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin (in German). 103 (11): 598–604. doi: 10.1055/s-0029-1227792. S2CID 73398723. Retrieved April 17, 2021.
- ^ Castriota-Scanderbeg, Alessandro; Dallapiccola, Bruno (2006). Abnormal Skeletal Phenotypes: From Simple Signs to Complex Diagnoses. Physica-Verlag. p. 435. ISBN 9783540303619.
- ^ Tiberio G, Digilio MC, Graziani M, Testa F, Giannotti A (2000). "Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family". Journal of Medical Genetics. 37 (7): 548–551. doi: 10.1136/jmg.37.7.548. PMC 1734641. PMID 10970192.
 | This genetic disorder article is a stub. You can help Wikipedia by expanding it. |
| Banki syndrome | |
|---|---|
| Other names | Fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis) |
Banki syndrome is a rare disorder in which two or more bones are fused. The symptoms may include: abnormality of the long bone of hand; short fingers or toes; permanent curving of the pinkie finger; fusion of wrist bones. The disorder has been reported in three generations of a single Hungarian family. [1] [2] First described by Z. Banki in a 1965 paper, [3] it has been noted as being similar to Liebenberg syndrome, featuring lunatotriquetral fusion of the lunate bone with the triquetral bone, clinodactyly of the fingers, overall short metacarpals, and thin diaphysis of the longer bones, but unlike Liebenberg, no elbow dysplasia is observed. [4] [5]
Sources
This article incorporates
public domain material from
Banki Syndrome.
National Institutes of Health.References
- ^ "Banki syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2021-03-20.
- ^ McKusick, Victor Almon; Osler, William (1983). Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive, and X-linked Phenotypes. Johns Hopkins University Press. p. 60. ISBN 9780801827440.
- ^ Banki, Z (1965). "Kombination erblicher Gelenk- und Knochenanomalien an der Hand Zwei neue Röntgenzeichen" [Combination of hereditary joint and bone abnormalities in the hand with two new x-ray signs]. RöFo: Fortschritte auf dem Gebiete der Röntgenstrahlen und der Nuklearmedizin (in German). 103 (11): 598–604. doi: 10.1055/s-0029-1227792. S2CID 73398723. Retrieved April 17, 2021.
- ^ Castriota-Scanderbeg, Alessandro; Dallapiccola, Bruno (2006). Abnormal Skeletal Phenotypes: From Simple Signs to Complex Diagnoses. Physica-Verlag. p. 435. ISBN 9783540303619.
- ^ Tiberio G, Digilio MC, Graziani M, Testa F, Giannotti A (2000). "Liebenberg syndrome: brachydactyly with joint dysplasia (MIM 186550): a second family". Journal of Medical Genetics. 37 (7): 548–551. doi: 10.1136/jmg.37.7.548. PMC 1734641. PMID 10970192.
|
| This genetic disorder article is a stub. You can help Wikipedia by expanding it. |