Richards Kristen A, Mancini Anthony J
Department of Dermatology, Northwestern University Medical School, Children's Memorial Hospital, Chicago, IL, USA.
J Am Acad Dermatol. 2002 Feb;46(2):301-3. doi: 10.1067/mjd.2002.107969.
Thirty cases of the Bjornstad syndrome (sensorineural deafness and pili torti) have been reported between 1965, when it was first described, and 1999. Both autosomal dominant and recessive inheritance patterns appear in the literature. We describe a family in which 3 members have the combination of pili torti and varying degrees of hearing loss inherited in an apparently autosomal dominant fashion. Hairs from the father and son of this family showed the classic features of pili torti under scanning electron microscopy.
自1965年首次描述以来至1999年，共报告了30例比约恩斯塔德综合征（感音神经性耳聋和扭曲发）。文献中既有常染色体显性遗传模式，也有隐性遗传模式。我们描述了一个家族，其中3名成员具有扭曲发和不同程度听力损失的组合，呈明显的常染色体显性遗传方式。该家族中父亲和儿子的毛发在扫描电子显微镜下显示出扭曲发的典型特征。
