Dandy‐Walker malformation with postaxial polydactyly: A new syndrome?

Abstract

We report on two sibs with Dandy-Walker malformation and tetramelic postaxial polydactyly. We conclude that this is a new autosomal recessive syndrome.

Dandy-Walker malformation with postaxial polydactyly: Further evidence for autosomal recessive inheritance

“…Pierquin et al [1989] described two sibs presenting the DWM and postaxial polydactyly with the extra digit well-formed and suggest that these cases and the two related by Egger et al [1982] can represent a new autosomal recessive syndrome (OMIM 220220). The case here related presenting DWM and tetramelic postaxial polydactyly with the extra digit well-formed resembles the cases previously described by Egger et al [1982] and Pierquin et al [1989]. The parental consanguinity found in the present case strongly suggests the autosomal recessive inheritance of the defined syndrome.…”

“…Some cases of Mohr syndrome, however, can also present CNS anomalies and sometimes DWM [Gustavson et al, 1971;Haumont and Pele, 1983]. Pierquin et al [1989] described two sibs presenting the DWM and postaxial polydactyly with the extra digit well-formed and suggest that these cases and the two related by Egger et al [1982] can represent a new autosomal recessive syndrome (OMIM 220220). The case here related presenting DWM and tetramelic postaxial polydactyly with the extra digit well-formed resembles the cases previously described by Egger et al [1982] and Pierquin et al [1989].…”

Joubert syndrome: A review

“…We analyzed the data described in 72 case reports: 34 isolated cases and 38 sibs in 17 families [Aicardi et al, 1983;Appleton et al, 1989;Beemer and Gooskens, 1985;Boltshauser and Isler, 1977;Boltshauser et al, 1981;Burroni et al, 1980;Calogero, 1977;Campbell et al, 1984;Casaer et al, 1985;Casamassima et al, 1987;Curatolo et al, 1980;Da Silva et al, 1984;Dekaban, 1969;Dralle and Schmidt-Sommerfeld, 1979;Egger et al, 1982;Fernandez et al, 1979;Fierro et al, 1977;Friede and Boltshauser, 1978;Gustavson et al, 1971;Hartmant-van Rijckevorsel et al, 1983;Haumont and Pelc, 1983;Houdou et al, 1986;Jourbert et al, 1969;King et al, 1984;Lambert et al, 1989b;Laverda et al, 1984;Lindhout et al, 1980;Matsuzaka et al, 1985;Meix and Castroviejo, 1980;Menezes and Coker, 1990;Moore andTaylor, 1984;Pfeiffer et al, 1974;Pierquin et al, 1989;Rossi et al, 1988;Sempere and Serano, 1982;Verloes and Lambotte, 1989;Yacoub et al, 1987;Ziegler et al, 19901. We also included 39 patients, 16 isolated cases and 13 sibs in 6 families with the diagnosis of Joubert syndrome or query Joubert syndrome. These patients were...…”

Dandy‐Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome

“….The patient of Pierquin et al (1989) shared many features with our proband, like Dandy-Walker malformation and polydactyly. Their patient may belong to the same entity as ours, but could hardly be regarded as having Joubert syndrome.…”