Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis contractural arachnodactyly, and characteristic face

Am J Med Genet. 1998 Apr 28;77(1):16-8. doi: 10.1002/(sici)1096-8628(19980428)77:1<16::aid-ajmg4>3.0.co;2-j.

Abstract

We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears, findings similar to those in 2 cases reported previously by Van Den Ende et al. [1992, Am J Med Genet 42:467-469] and Gupta et al. [1995, J Med Genet 32:809-812], thus delineating a new syndrome of contractural arachnodactyly with characteristic facial anomalies.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Blepharophimosis / diagnosis*
  • Blepharophimosis / genetics
  • Child, Preschool
  • Contracture / congenital
  • Contracture / diagnosis*
  • Contracture / genetics
  • Ear / abnormalities
  • Elbow / abnormalities
  • Elbow / diagnostic imaging
  • Face / abnormalities*
  • Female
  • Fingers / abnormalities*
  • Genes, Recessive
  • Hand Deformities, Congenital / diagnosis
  • Hand Deformities, Congenital / genetics
  • Humans
  • Infant, Newborn
  • Marfan Syndrome / diagnosis*
  • Marfan Syndrome / genetics
  • Radiography
  • Syndrome