Polycystic kidneys associated with malformations of the brain, polydactyly, and other birth defects in newborn sibs. A lethal syndrome showing the autosomal-recessive pattern of inheritance.

Meckel's syndrome (dysencephalia splanchno-cystica) in two Pakistani sibs.

“…The evidence for an autosomal recessive inheritance of this malformation is supported by the findings of 3 pairs of concordant monozygotic twins in 2 families (Stockard, 1921;Hsia et al, 1971) and by previous reports of parental consanguinity (Kanzow, 1859;Tucker et al, 1966;Walbaum et al 1967;Fried et al, 1971). In the family of Tucker et al (1966) the affected child was born of an incestuous father-daughter mating.…”

“…In the family of Tucker et al (1966) the affected child was born of an incestuous father-daughter mating. Fried et al (1971) included 2 families with first cousin parents in a report of 10 cases in 4 families. Although the children reported here lacked polydactyly, cleft palate, and congenital heart disease, they did have microcephaly, encephalocele, and polycystic kidneys and would be accepted by most, if not all, authorities as examples of Meckel's syndrome.…”

The Ciliary Baton

“…MKS presents with cleft lip in 20% of cases and cleft lip and palate in 45% of cases. Clefting is accompanied by tongue malformations including ankyloglossia, bifid tongue, and anterior marginal hamartomas (Fried, Liban, Lurie, Friedman, & Reisner, 1971;Moerman, Verbeken, Fryns, Goddeeris, & Lauweryns, 1982;Rehder & Labbe, 1981). BBS is associated with oligodontia, hypodontia, and numerous other dental abnormalities (Lofterod, Riise, Skuseth, & Storhaug, 1990).…”

The Meckel syndrome in Finland: Epidemiologic and genetic aspects

“…The segregation analysis of 12 sibships by Mecke and Passarge [1971] and the numerous reported consanguinities of the parents [Tucker et al, 1966;Fried et al, 1971;Naffah et al, 1972;Crawhrd et al, 1978;Nevin et al, 1979;Moerman et al, 19821 give sufficient evidence for the autosomal recessive inheritance of MS.…”