Johanson‐Blizzard syndrome in a large inbred kindred with three involved members

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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, had evidence of malabsorption and died at 4 mo. of age. The occurrence of extensive consanguinity in his family and the occurrence of 2 other members of the kindred with a similar syndrome indicate that this disorder is transmitted by an autosomal recessive gene.