The cerebro-reno-digital syndromes: a new community

Abstract

Two "new" syndromes of multiple congenital malformations with autosomal-recessive inheritance are presented. One syndrome, found in 2 sibs of nonconsanguineous parents, included microcephaly, agencies of the corpus callosum, pterygium colli, cystic renal dysplasia (CRD) and postaxial polydactyly (PP). The other, found in 2 female sibs of consanguineous parents, included micropolygyria, CRD, PP, and polysplenia. The literature review allows the delineation of a community of 19 "cerebro-reno-digital" syndromes with autosomal recessive inheritance, 14 of which include cerebral anomalies, CRD and PP. Three more autosomal recessively inherited syndromes had CRD (or renal fibrosis) and cerebral anomalies (without digital anomalies), three others involved cerebral and digital anomalies (without renal anomalies), and one further syndrome showed CRD and ectrodactyly (without cerebral defects). Such phenotypical similarity may be attributed to the fact that there are common links in the pathogenesis of the syndromes under study.