title: Johanson-Blizzard syndrome in a large inbred kindred with three involved members.
abstract: An infant with aplastic alae nasi, imperforate anus, focal aplasia cutis over the fontanels, microcephaly, and mental retardation is presented as an example of the Johanson-Blizzard syndrome. The infant failed to thrive and had evidence of malabsorption. He died at 4 months of age. The occurrence of extensive consanguinity in his family and the occurrence of two other members of the kindred with a similar syndrome indicate that this disorder is transmitted by an autosomal recessive gene.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001006:Anus, Imperforate / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003241:Consanguinity; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009666:Nose / Q000002:abnormalities; D010375:Pedigree; D012868:Skin Abnormalities; D013577:Syndrome