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Bjornstad syndrome.

Deepa Aggarwal1, Kabir Sardana, Praveen Kumar

  • 1Department of Paediatrics Medicine, Kalawati Saran Children's Hospital & Lady Hardinge Medical College, New Delhi, India.

Indian Journal of Pediatrics
|September 4, 2004
PubMed
Summary

Bjornstad Syndrome is a rare genetic disorder causing distinctive hair shaft abnormalities and sensorineural hearing loss. Early diagnosis in infants is crucial for managing this condition.

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Area of Science:

  • Pediatric Genetics
  • Dermatology
  • Audiology

Background:

  • Bjornstad Syndrome is an autosomal recessive disorder.
  • It is characterized by pili torti and sensorineural hearing loss.

Observation:

  • A 9-month-old boy presented with gastrointestinal and respiratory distress.
  • He exhibited sparse, brittle, thin scalp hairs of varying lengths with a twisted appearance.

Findings:

  • Microscopy confirmed pili torti, showing alternating light and dark segments and 180-degree twists.
  • Audiological testing revealed bilateral sensorineural hearing loss.
  • Serum copper levels were within the normal range.

Implications:

  • This case highlights the importance of recognizing characteristic hair shaft abnormalities in infants.
  • Early diagnosis of Bjornstad Syndrome facilitates timely audiological and developmental assessments.
  • Understanding the genetic basis of Bjornstad Syndrome can guide future research and therapeutic strategies.

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