AN AUTOSOMAL RECESSIVE ADDUCTED THUMB CLUB FOOT SYNDROME OBSERVED IN TURKISH COUSINS

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.