3 BROTHERS WITH MENTAL AND PHYSICAL RETARDATION, HYDROCEPHALUS, MICROCEPHALY, INTERNAL MALFORMATIONS, SPEECH DISORDER, AND FACIAL ANOMALIES- MUTCHINICK-SYNDROME

We describe three brothers from a nonconsanguineous family with microc ephaly, mental and physical retardation, speech disorder, facial anoma lies, and internal hydrocephalus in two of the three affected brothers , The youngest brother died at the age of 5 months, He had situs abdom inalis inversus, ASD II, and had been operated for internal hydrocepha lus and atresia of the biliary duct, A search in the Oxford Medical Da tabase Dysmorphology Program suggested phenotypic similarities with tw o sisters described in 1972 by Osvaldo Mutchinick in Argentina, Althou gh differences in their phenotypes exist, it is possible that the two sets of sibs represent the same, rare syndrome, This interpretation is supported by the origin of both families from the same geographic reg ion. (C) 1997 Wiley-Liss, Inc.