A disorder associated with irregular
pili torti, deafness and hypogonadism with luteinizing hormone and growth
Seizures, Mental Retardation, Hair Dysplasia Syndrome.
Extremely rare disorder (one case report) with
probably autosomal recessive transmission.
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.
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
Coleman M, Randall J; Seizure disorder, mental retardation, unusual
facies, and abnormal hair. J Clin Dysmorphol