Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness: a new autosomal recessive syndrome.
- 1 March 1988
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 25 (3) , 204-205
- https://doi.org/10.1136/jmg.25.3.204
Abstract
An association of Hirschsprung disease with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness is described in sibs (brother and sister) of consanguineous parents. It is suggested that this might represent a new autosomal recessive syndrome.Keywords
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