Berk–Tabatznik syndrome
| Berk–Tabatznik syndrome | |
|---|---|
| Other names | Kyphosis brachyphalangy optic atrophy |
Berk–Tabatznik syndrome is a medical condition with an unknown cause that shows symptoms of short stature, congenital optic atrophy and . This condition is extremely rare with only two cases being found.[1]
See also[]
- Heart-hand diseases
- Rare disease
References[]
- ^ Bissonnette, Bruno; Luginbuehl, Igor; Dalens, Bernard J., eds. (2006). "Berk–Tabatznik Syndrome". Syndromes: rapid recognition and perioperative implications. New York: McGraw-Hill. p. 94. ISBN 978-0-07-135455-4.
Further reading[]
- Hartwell, EA; Robinson, LK; Robinson, LH; Aceves, J; Reynolds, James F. (1988). "Congenital optic atrophy and brachytelephalangy: the Berk–Tabatznik syndrome". American Journal of Medical Genetics. 29 (2): 383–9. doi:10.1002/ajmg.1320290220. PMID 3128111.
External links[]
Categories:
- Rare syndromes
- Syndromes affecting stature
- Syndromes affecting the optic nerve
- Disease stubs
- Human reproduction stubs