Santos H, Mateus J, Leal M J
Department of Pediatrics, Santa Maria Hospital, Lisbon, Portugal.
J Med Genet. 1988 Mar;25(3):204-5. doi: 10.1136/jmg.25.3.204.
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.
在近亲结婚父母的同胞(兄妹)中,描述了一种先天性巨结肠与多指(趾)畸形、单侧肾发育不全、眼距过宽和先天性耳聋的关联。有人认为这可能代表一种新的常染色体隐性综合征。