Bjornstad Syndrome

被引：2

作者：

Aggarwal D. ^{[1
]}

Sardana K. ^{[2
]}

Kumar P. ^{[1
,3
]}

Dewan V. ^{[1
]}

Anad V.K. ^{[1
]}

机构：

[1] Department of Paediatrics Medicine, Kalawati Saran Children's Hospital, Lady Hardinge Medical College, New Delhi

[2] Department of Dermatology, Kalawati Saran Children's Hospital, Lady Hardinge Medical College, New Delhi

[3] OCS Apartments, New Delhi-110091, Mayur Vihar Phase-I Extension

来源：

The Indian Journal of Pediatrics | 2004年 / 71卷 / 8期

关键词：

Bjornstad Syndrome; Pili torti; Sensorineural deafness;

D O I：

10.1007/BF02730670

中图分类号：

学科分类号：

摘要：

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.

引用

页码：759 / 761

页数：2

共 17 条

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[2]

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[10]

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