Bjornstad syndrome.
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.
Aggarwal
Deepa
D
Department of Paediatrics Medicine, Kalawati Saran Children's Hospital & Lady Hardinge Medical College, New Delhi, India.
Sardana
Kabir
K
Kumar
Praveen
P
Dewan
Vivek
V
Anand
V K
VK
D006197:Hair / Q000002:abnormalities*; D006312:Hearing Loss, Bilateral / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D013577:Syndrome