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A disorder associated with irregular pili torti, deafness and hypogonadism with luteinizing hormone and growth hormone deficiency.

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Seizures, Mental Retardation, Hair Dysplasia Syndrome.

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Extremely rare disorder (one case report) with probably autosomal recessive transmission.

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Features include coarse hair with abnormal texture, low-set ears, epicanthic folds, broad nasal root, long philtrum, thin lips, short neck, hypoplastic/absent nipples, irregularly shaped fingers, and overlapping toes. Hypotonia, mental retardation, and seizures (any type) can be observed.

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Anesthesia associated with this disorder has not been described. Anticipate difficult airway management and maintain spontaneous ventilation until the airway has been secured. Consider interactions between antiepileptic treatment and anesthetic drugs. Mental retardation may affect patient cooperation. Hypnotic and/or anxiolytic premedication and the presence of the primary caregiver during induction may be helpful.

Coleman M, Randall J; Seizure disorder, mental retardation, unusual facies, and abnormal hair. J Clin Dysmorphol 1:28, 1983.  [PubMed: 6423779]

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