Article Text

PDF

Anophthalmia with cleft palate and micrognathia: a new syndrome?
  1. S R Phadke,
  2. A K Sharma,
  3. S S Agarwal
  1. Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India.

    Abstract

    A 5 day old male with bilateral anophthalmos, hypospadias, bifid scrotum, micrognathia, and cleft palate with normal chromosomes is described. There have been two case reports with similar clinical manifestations but associated with interstitial deletion of 14q (q22q23). We propose that either our patient represents a new syndrome or has a microdeletion which could not be detected on routine cytogenetics. High quality cytogenetics and FISH may show microdeletions in patients presenting with this clinical picture and normal chromosomes.

    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.

    Linked Articles