Polymalformative syndrome characterized by microcephaly, typical facial features, deafness, and mental retardation. The facial characteristics include prominent glabella, protruding lower lip, and micrognathia.
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 should include the presence of difficult airway management because of micrognathia. Patients with developmental delay may be uncooperative due to mental retardation. The use of premedication should be used with caution.
N: Syndrome of microcephaly, deafness/malformed ears, mental retardation and peculiar facies in a mother and son. Clin Genet