title: Fallot complex, severe mental, and growth retardation: a new autosomal recessive syndrome?
abstract: We report on the syndromic occurrence of the Fallot complex in sibs born to consanguineous Pakistani parents. Additional manifestations included minor facial anomalies, pronounced failure to thrive, and mental retardation. Expression of the syndrome varied. While one of the four patients had cardiac malformations, another sib had only non-cardiac manifestations. The clinical findings suggest a new autosomal recessive syndrome.
authors.affiliation: Institut für Humangenetik, Justus-Liebig Universität Giessen, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Bindewald
authors.forename: H
authors.initials: H
authors.lastname: Ulmer
authors.forename: U
authors.initials: U
authors.lastname: Müller
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005145:Face / Q000002:abnormalities; D005183:Failure to Thrive / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D013577:Syndrome