Berk–Tabatznik syndrome

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Berk–Tabatznik syndrome is a 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]

References[edit]

  1. ^ 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[edit]

  • 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.