Ellis-van Creveld syndrome in a Western Australian aboriginal community. Postaxial polydactyly as a heterozygous manifestation?
OBJECTIVE
To report two children with Ellis-van Creveld syndrome in an extended kindred of Western Australian Aboriginal descent. Furthermore, to document two family members with isolated postaxial polydactyly of the feet as probable heterozygous manifestations of the Ellis-van Creveld gene.


METHODS
Male and female second cousins with short limbs, postaxial polydactyly and cardiac malformations are described.


CONCLUSIONS
It is proposed that founder effect and random genetic drift resulted in a relatively high frequency of the Ellis-van Creveld gene in the Aboriginal people of Western Australia. In addition, further evidence is provided for the postulate that isolated postaxial polydactyly is a heterozygous manifestation of the gene.
Goldblatt
J
J
Princess Margaret Hospital for Children, Perth, WA.
Minutillo
C
C
Pemberton
P J
PJ
Hurst
J
J
D004613:Ellis-Van Creveld Syndrome / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D014034:Toes / Q000002:abnormalities*; D000095283:Australian Aboriginal and Torres Strait Islander Peoples