Neonatal Polycystic Kidney With Brain Defect

Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

“…However, a single M390R mutation with a founder effect from Northern Europe accounts for 80% of cases with BBS1 mutations (Beales et al 2003;Mykytyn et al 2003), and none of our cases was of North European extraction. In agreement with previous studies, a high rate of heterozygous BBS6 mu- Goldston et al (1963). Also reported by D'Agostino et al (1963).…”

The Classification of Renal Cysts

“…The abnormality is a form of dys plasia with markedly defective metanephric differentiation and deficient nephronic development. Similar renal lesions in other, apparently different syn dromes [24,25] suggest to us a close relationship to Meckel's syndrome. Alternatively, Meckel's syndrome might be regarded as a loose and incom pletely defined heterogeneous syndrome.…”

Dandy–Walker malformation in the Meckel syndrome

“…DWM has been described in 2 syndromes with recessive inheritance. Goldston et al [1963] described 3 sibs with DWM and renal dysplasia, but in none of their cases was there polydactyly, portal tract fibrosis, or indeed any of the other anomalies present in our cases. DWM has also been reported in the Ellis van Creveld syndrome [Zangwill et al, 19881, a recessive condition in which both polydactyly and renal dysplasia occur but not portal tract fibrosis.…”