Polymalformative syndrome characterized by
microcephaly, typical facial features, deafness, and mental retardation.
Exact incidence unknown; one
case report of an affected mother and son. Suggested autosomal dominant
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