A recessively inherited non-lethal form of popliteal pterygium syndrome.
Two siblings, a 10-year-old boy and a 6-month-old girl, born in a Palestinian family, with manifestations of popliteal pterygium syndrome are presented. This rare form of syndrome is usually assumed to be autosomal dominant. Parental consanguinity and lack of phenotype manifestation in the ancestry of the present family favoured an interpretation of determination by an autosomal recessive trait.
Cardoso
E R
ER
King Khalid University Hospital, Riyadh, Saudi Arabia.
Hawary
M B
MB
Mahmud
S
S
D002972:Cleft Palate / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007866:Leg / Q000002:abnormalities*; D008297:Male; D009056:Mouth Abnormalities / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D013577:Syndrome