An autosomal recessive adducted thumb club foot syndrome observed in Turkish cousins


Dundar M. , Demiryılmaz F., Demiryilmaz I. , Kumandas S. , Erkilic K. , Kendirci M. , et al.

CLINICAL GENETICS, cilt.51, ss.61-64, 1997 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 51 Konu: 1
  • Basım Tarihi: 1997
  • Dergi Adı: CLINICAL GENETICS
  • Sayfa Sayısı: ss.61-64

Özet

Male and female cousins, the offspring of consanguineous Turkish parents, have been affected by a hitherto unreported combination of problems comprising moderate to severe psychomotor developmental delay, ocular anterior chamber abnormality, facial dysmorphisms (broad, bossed forehead, late-closing fontanelle, telecanthus, downslanting palpebral fissures, posteriorly rotated ears, downturned angles of mouth), arachnodactyly and distal arthrogryposis with severely adducted thumbs and club feet. This striking phenotype has some similarities with the multiple pterygium syndrome (Escobar syndrome), but it most likely represents a distinct condition caused by an autosomal recessive gene defect.