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Case Reports
. 2004 Aug;71(8):759-61.
doi: 10.1007/BF02730670.

Bjornstad syndrome

Deepa Aggarwal  1 , Kabir Sardana, Praveen Kumar, Vivek Dewan, V K Anand
Affiliations
Case Reports

Bjornstad syndrome

Deepa Aggarwal et al. Indian J Pediatr. 2004 Aug.

Abstract

A 9-month-old boy presented with the complaints of loose motion, vomiting and difficulty in breathing. His scalp hairs were thin, brittle, and sparse and were of differing lengths with twisted appearance. Hair shaft microscopy revealed alternate light and dark segments and twisting of the hair shafts by 180 degrees along the axis. Serum copper levels were normal. The audiological testing revealed bilateral sensorineural hearing loss. Child was diagnosed as a case of Bjornstad Syndrome.

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References

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