A RARE CASE OF HANHART SYNDROME WITH MILD DEVELOPMENTAL DELAY

Ceylan G. G. , Tos T., Sari E.

GENETIC COUNSELING, vol.27, no.2, pp.219-222, 2016 (Journal Indexed in SCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 27 Issue: 2
  • Publication Date: 2016
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.219-222

Abstract

A rare case of Hanhart syndrome with mild developmental delay: Hanhart Syndrome (OMIM 103300) is an extremely rare syndrome with some congenital malformations. It is characterised by hypoglossia, adactylia/hypodactylia, peromelia of arms and/or legs and micrognathia. The severity of the symptomes can differ from patient to patient. Some affected individuals may have only a part of these clinical features. In this case report, we want to present a Turkish girl with hypoglossia, micrognathia and peromelia who was diagnosed according to the clinical and radiographic findings.