Mental Retardation, Buenos Aires Type

Clinical Features

Among the children of a consanguineous mating, Mutchinick (1972) described 2 with an apparently distinctive syndrome of mental and physical retardation, peculiar facies, and heart and renal malformations. True microcephaly and Seckel dwarfism were suggested but for one or another reason did not satisfy the features of these cases.

Doerfler et al. (1997) examined 2 brothers from the Ruhr area in Germany with a phenotype similar to that described by Mutchinick (1972). A third brother with multiple malformations had died in infancy. On further investigation they found that the 2 sib pairs, that from Argentina and that from Germany, now living some 12,000 km apart, originated from the same geographic region in Poland. The 3 brothers described by Doerfler et al. (1997) came from a nonconsanguineous family and showed microcephaly, mental and physical retardation, speech disorder, facial anomalies, and internal hydrocephalus. The youngest brother died at the age of 5 months. He had situs abdominalis inversus and atrial septal defect, and had been operated on for internal hydrocephalus and atresia of the biliary duct.

Tonoki et al. (1999) described a Japanese girl with Mutchinick syndrome, indicating that it is not restricted to descendants of individuals from East Prussia.