An association of congenital hepatic fibrosis (CHF), Caroli's disease, medullary sponge kidney, type II interventricular defect with right transposition of the aorta, multiple cervical vertebra malformations, and first sacral vertebra schisis in a 16 year old son of consanguineous parents (consanguinity factor = 1/32), is described. The patient's sister presented asymptomatic CHF and medullary sponge kidney only. Parental consanguinity in this case lends support to the view that CHF, medullary sponge kidney and cardiac malformations are more likely to be manifestation of a single recessive gene, with a varying phenotypic expression, than of different mutant genes.
Two cases of congenital hepatic fibrosis in children of consanguineous marriage.
GALLO, Vittorio;BISBOCCI, Daniela;
1990-01-01
Abstract
An association of congenital hepatic fibrosis (CHF), Caroli's disease, medullary sponge kidney, type II interventricular defect with right transposition of the aorta, multiple cervical vertebra malformations, and first sacral vertebra schisis in a 16 year old son of consanguineous parents (consanguinity factor = 1/32), is described. The patient's sister presented asymptomatic CHF and medullary sponge kidney only. Parental consanguinity in this case lends support to the view that CHF, medullary sponge kidney and cardiac malformations are more likely to be manifestation of a single recessive gene, with a varying phenotypic expression, than of different mutant genes.
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