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Coarse face, microcephaly, mental retardation, and epilepsy.

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Only two sibs have been described. Inheritance was suspected to be autosomal recessive.

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Brother and sister presented with microcephaly, mental retardation, and epilepsy, which was refractory to medical treatment in the brother, but was sufficiently controlled in the sister. In addition, both individuals had hirsutism, a coarse face, scoliosis, and a retarded bone age.

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Preanesthetic and postanesthetic management may be challenging because of an increased level of anxiety with mental retardation. Antiepileptic therapy may require preoperative adjustment, and drug interactions are common with certain antiseizure drugs. Severe scoliosis has its own anesthetic implications (difficult tracheal intubation, restrictive airway disease, cor pulmonale), which may require further considerations.

Battaglia A, Ferrari A, Orsitto E, et al: New autosomal recessive syndrome of mental retardation, coarse face, microcephaly and skeletal abnormalities. Clin Dysmorphol 5:41, 1996.  [PubMed: 8867658]

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