MCA/MR syndrome with severe pre- and postnatal growth retardation, deep mental retardation, distinct facial appearance with nasal hypoplasia, cleft palate and retino-choroidal coloboma in two unrelated female patients

We describe the clinical findings and natural history in two unrelated deep ly mentally retarded females, now 28 and 20 years old respectively. Both pr esented prenatal growth retardation and severe postnatal growth retardation . Their craniofacial appearance is distinct with nasal hypoplasia, triangul ar mouth and thin lips. Both have a cleft palate and a retinal coloboma at the right eye. Motor development is below the age of 1 year with a complex neurological syndrome with axial hypotonia and spastic quadriplegia.