Article Text

PDF

Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs
  1. I D Young,
  2. W G Macrae,
  3. H E Hughes,
  4. J S Crawford
  1. Department of Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada
  2. Department of Ophthalmology, The Hospital for Sick Children, Toronto, Ontario, Canada

    Abstract

    This paper describes two sibs in each of whom Keratoconus posticus circumscriptus is associated with multiple abnormalities. These include short stature, mental retardation, cleft lip and palate, and vertebral anomalies. The authors have been unable to trace any former reports of an identical condition and suggest that the findings in these children may represent a previously unrecognised malformation syndrome showing probable autosomal recessive inheritance.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.