Camptodactyly, myopia, and fibrosis of the medial rectus of the eye in two sibs born to consanguineous parents: autosomal recessive entity?

Am J Med Genet. 1998 Apr 28;77(1):28-30. doi: 10.1002/(sici)1096-8628(19980428)77:1<28::aid-ajmg7>3.0.co;2-h.

Abstract

Unaffected but consanguineous parents suggest autosomal recessive inheritance of a previously apparently undescribed syndrome of camptodactyly, fibrosis of the medial rectus muscle of the eye, severe myopia, facial anomalies, joint contractures, and mild scoliosis in a 13-year-old Turkish girl and her 11-year-old brother. The girl also had ptosis.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Child
  • Consanguinity*
  • Contracture / congenital*
  • Contracture / genetics
  • Female
  • Fibrosis
  • Fingers / abnormalities*
  • Genes, Recessive*
  • Humans
  • Male
  • Myopia / congenital*
  • Myopia / genetics
  • Oculomotor Muscles / abnormalities*
  • Syndrome