associated with ptosis, mental retardation, and hair anomalies.
Trichodermal Syndrome with Mental Retardation.
incidence and pattern of inheritance unknown. There is only one report of two siblings who
died of liver problems in infancy.
Ocular manifestations include blepharoptosis and
nystagmus. Neurologic signs are torticollis and mental retardation. The
tongue has hyperplastic papillae. Abnormally fine, sparse, brittle hair is
present on the body, proximal phalanges of the fingers and toes, and the
head. Hair on the body and digits disappeared by the third month of life,
leaving behind large dermal pores.
Enlarged tongue caused by hyperplastic
papillae may cause difficulty with face-mask ventilation and possibly
endotracheal intubation. Torticollis, or contraction of the cervical
muscles, may make airway management awkward, but the spasticity should
resolve with administration of neuromuscular blockade.
Liver function should be carefully assessed, since both patients died from
delayed patients may be uncooperative.
Careful dosage of drugs with predominantly
Katsantoni A, Papadakou-Lagoyanni S, Micheloyannis J, et al: New syndrome
of trichodermal defect and mental retardation. Am J Med Genet 18:329, 1984.