Male and female cousins, the offspring of consanguineous Turkish paren
ts, have been affected by a hitherto unreported combination of problem
s comprising moderate to severe psychomotor developmental delay, ocula
r anterior chamber abnormality, facial dysmorphisms (broad, bossed for
ehead, late-closing fontanelle, telecanthus, downslanting palpebral fi
ssures, posteriorly rotated ears, downturned angles of mouth), arachno
dactyly and distal arthrogryposis with severely adducted thumbs and cl
ub feet. This striking phenotype has some similarities with the multip
le pterygium syndrome (Escobar syndrome), but it most likely represent
s a distinct condition caused by an autosomal recessive gene defect.