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Polymalformative syndrome characterized by microcephaly, typical facial features, deafness, and mental retardation.

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Microcephaly-Deafness Syndrome.

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Exact incidence unknown; one case report of an affected mother and son. Suggested autosomal dominant inheritance.

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Microcephaly, which apparently resolved in the mother by age 26 years. Facial asymmetry with prominent glabella, protruding lower lip, micrognathia, and low-set, cup-shaped ears were described. Both subjects suffered from mental retardation and deafness.

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Primary concern is possible difficult airway management because of micrognathia. Patients with developmental delay may be uncooperative and be better off with sedative premedication.

Kawashima H, Tsuji N: Syndrome of microcephaly, deafness/ malformed ears, mental retardation and peculiar facies in a mother and son. Clin Genet 31:303, 1987.  [PubMed: 3608216]

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