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


Microcephaly-Deafness Syndrome.


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


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.


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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