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Genetic disorder with pili torti and sensorineural deafness.

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Pili Torti and Nerve Deafness Syndrome.

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Approximately 37 cases have been described. Autosomal recessive with gene map locus on 2q34-36.

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Deafness is evident in the first years of life. The severity stabilizes by puberty. Abnormalities of hair (alopecia, or coarse, dry, lusterless, fragile hair) are present and mainly of cosmetic concern. Microscopic examination of the hair shaft shows flattening at irregular intervals and a 180-degree twisting around its axis. Diagnosis is confirmed by optical and scanning electron microscopy. Mental retardation or hypogonadism in some patients.

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No specific anesthetic implications should arise from this disorder. Benzodiazepine premedication may decrease the anxiety of these patients with severe deafness given that communication may be difficult. Parental presence at induction may be helpful for a fearful child who is unable to communicate well. Constant reassurance by the parent or signing for older patients is necessary during induction and upon emergence from anesthesia.

Lubianca Neto JF, Lu L, Eavey RD, et al: The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36. Am J Hum Genet 62:1107, 1998.
Richards KA, Mancini AJ: Three members of a family with pili torti and sensorineural hearing loss: The Bjornstad syndrome. J Am Acad Dermatol 46:301, 2002.  [PubMed: 11807445]
Seelvag E: Pili torti and sensorineural hearing loss: A follow-up of Bjornstad's original patients and a review of the literature. Eur J Dermatol 10:91, 2000.

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