Anterior segment anomalies of the eye, clefting and skeletal abnormalities in two sibs of consanguineous parents: Michels syndrome or new syndrome?

Clin Dysmorphol. 1994 Jul;3(3):238-44.

Abstract

We report two sibs of consanguineous parents with multiple congenital abnormalities which include prenatal and postnatal growth retardation, anterior segment defects of the eye, arachnodactyly with other skeletal abnormalities, congenital heart disease and early lethality. We think this constellation of anomalies may represent a previously undescribed syndrome. There are some similarities to Michels syndrome from which it should be differentiated.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / classification*
  • Abnormalities, Multiple / diagnosis
  • Adult
  • Bone and Bones / abnormalities*
  • Consanguinity
  • Diagnosis, Differential
  • Eye Abnormalities / classification*
  • Eye Abnormalities / diagnosis
  • Female
  • Growth Disorders / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Syndrome