title: 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.
abstract: We describe the clinical findings and natural history in two unrelated deeply mentally retarded females, now 28 and 20 years old respectively. Both presented prenatal growth retardation and severe postnatal growth retardation. Their craniofacial appearance is distinct with nasal hypoplasia, triangular 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.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000015:Abnormalities, Multiple; D002972:Cleft Palate; D003103:Coloboma; D019465:Craniofacial Abnormalities; D019066:Facies; D005260:Female; D006130:Growth Disorders; D006801:Humans; D008607:Intellectual Disability; D009666:Nose / Q000002:abnormalities; D012160:Retina / Q000002:abnormalities; D013577:Syndrome