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

D P Cavalcanti; M A Salomão

doi:10.1002/(sici)1096-8628(19990716)85:2<183::aid-ajmg15>3.0.co;2-4

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

Am J Med Genet. 1999 Jul 16;85(2):183-4. doi: 10.1002/(sici)1096-8628(19990716)85:2<183::aid-ajmg15>3.0.co;2-4.

Authors

D P Cavalcanti¹, M A Salomão

Affiliation

¹ Depto. Genética Médica, Faculdade de Ciências Médicas, UNICAMP, Campinas, SP, Brazil. dpc@turing.unicamp.br

PMID: 10406674
DOI: 10.1002/(sici)1096-8628(19990716)85:2<183::aid-ajmg15>3.0.co;2-4

Abstract

We describe an infant with Dandy-Walker malformation and tetramelic postaxial polydactyly type 1A. Parental consanguinity reinforces previous suggestions for autosomal recessive inheritance.

MeSH terms

Brain / diagnostic imaging
Consanguinity
Dandy-Walker Syndrome / diagnostic imaging
Dandy-Walker Syndrome / genetics*
Genes, Recessive*
Humans
Infant
Male
Polydactyly / genetics*
Tomography, X-Ray Computed