Berk–Tabatznik syndrome explained
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Synonyms: | 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 brachytelephalangy. This condition is extremely rare with only two cases being found.[1]
See also
Further reading
- Hartwell EA, Robinson LK, Robinson LH, Aceves J . Congenital optic atrophy and brachytelephalangy: the Berk-Tabatznik syndrome . American Journal of Medical Genetics . 29 . 2 . 383–389 . February 1988 . 3128111 . 10.1002/ajmg.1320290220 .
Notes and References
- Book: Bruno B, Luginbuehl I, Dalens BJ . 2006 . Berk–Tabatznik Syndrome . https://books.google.com/books?id=uRR1MYa-w5wC&pg=PT110 . Syndromes: rapid recognition and perioperative implications . McGraw-Hill . New York . 978-0-07-135455-4 . 94.