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Berk–Tabatznik syndrome

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Berk–Tabatznik syndrome
Other namesKyphosis 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

References

  1. ^ Bruno B, Luginbuehl I, Dalens BJ, 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 (February 1988). "Congenital optic atrophy and brachytelephalangy: the Berk-Tabatznik syndrome". American Journal of Medical Genetics. 29 (2): 383–389. doi:10.1002/ajmg.1320290220. PMID 3128111.
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