¹Ahmanson Department of Pediatrics, Steven Spielberg Pediatric Research Center, Cedars-Sinai Research Institute, Los Angeles, CA, USA

²Department of Obstetrics and Gynecology, Cedars-Sinai Research Institute, Los Angeles, CA, USA

³Department of Pediatrics, UCLA School of Medicine, Los Angeles, CA, USA

⁴Department of Obstetrics and Gynecology, UCLA School of Medicine, Los Angeles, CA, USA

⁵Department of Human Genetics, UCLA School of Medicine, Los Angeles, CA, USA

Correspondence to: Deborah Krakow , Cedars-Sinai Medical Center, Medical Genetics- SSB-3, 8700 Beverly Boulevard, Los Angeles, California 90048, USA. Tel: +1 310 423 6451; Fax: +1 310 423 0237; E-mail: dkrakow@xchg.peds.csmc.edu

Ellis-van Creveld syndrome (EVC) is a relatively rare, usually non-lethal, autosomal recessive skeletal dysplasia characterized by short stature, polydactyly, cardiac and renal anomalies. Linkage analysis has localized the disease gene to chromosome 4p16, with the markers at loci D4S827 and D4S3135 defining the centromeric and telomeric limits of the linked interval, respectively. There has been long-term speculation that asphyxiating thoracic dystrophy (ATD) and the short-rib polydactyly syndromes (SRP) represent the severe end of the EVC disease spectrum. We performed linkage analysis using markers from the EVC region in seven families manifesting either ATD or SRP type III. In two of the families, one segregating ATD and one SRP kindred, linkage of the phenotype to the EVC region was excluded. In the other five families linkage of the phenotype to the EVC region could not be excluded, but the families were too small for linkage to the region to be established. The exclusion of the EVC region in ATD and SRP III families suggests that locus heterogeneity exists within the short-rib dysplasia (with and without polydactyly) group of disorders. European Journal of Human Genetics (2000) 8, 645-648.

Ellis-van Creveld; asphyxiating thoracic dystrophy; short-rib polydactyly; chromosome 4p16; dwarfism