RT Journal Article
SR Electronic
T1 Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 888
OP 892
DO 10.1136/jmg.36.12.888
VO 36
IS 12
A1 Melissa M Lees
A1 Robin M Winter
A1 Sue Malcolm
A1 Howard M Saal
A1 Lyn Chitty
YR 1999
UL http://jmg.bmj.com/content/36/12/888.abstract
AB Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder, thought to occur with an incidence of approximately 1 in 300 000 live births. The main clinical manifestations are popliteal webbing, cleft lip, cleft palate, lower lip pits, syndactyly, and genital and nail anomalies. This report describes the clinical features in two families with PPS and one isolated case, showing the range of anomalies found both within and between the families. PPS has some features in common with Van der Woude syndrome (VWS), also inherited as an autosomal dominant condition, with cleft lip/palate and, more distinctively, lower lip pits. Although the gene for VWS has not yet been identified, it has been localised to within 1.6 cM in the region 1q32-41. To determine whether PPS and VWS represent allelic forms of the same gene, three families were genotyped for markers flanking and within the critical region. A multipoint lod score of 2.7 was obtained, with no evidence of recombination, supporting the hypothesis that these two disorders are allelic.