title: Three brothers with mental and physical retardation, hydrocephalus, microcephaly, internal malformations, speech disorder, and facial anomalies: Mutchinick syndrome.
abstract: We describe three brothers from a non-consanguineous family with microcephaly, mental and physical retardation, speech disorder, facial anomalies, and internal hydrocephalus in two of the three affected brothers. The youngest brother died at the age of 5 months. He had situs abdominalis inversus, ASD II, and had been operated for internal hydrocephalus and atresia of the biliary duct. A search in the Oxford Medical Database Dysmorphology Program suggested phenotypic similarities with two sisters described in 1972 by Osvaldo Mutchinick in Argentina. Although 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 region.
authors.affiliation: Institut für Humangenetik, Universitätsklinikum Essen, Germany. doerfler@scan.genetik.uni-koeln.de
authors.forename: W
authors.initials: W
authors.lastname: Doerfler
authors.forename: D
authors.initials: D
authors.lastname: Wieczorek
authors.forename: G
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: B
authors.initials: B
authors.lastname: Albrecht
authors.forename: E
authors.initials: E
authors.lastname: Passarge
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005858:Germany; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics; D010375:Pedigree; D013064:Speech Disorders / Q000235:genetics; D013577:Syndrome