A RARE CASE OF HANHART SYNDROME WITH MILD DEVELOPMENTAL DELAY


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

GENETIC COUNSELING, cilt.27, ss.219-222, 2016 (SCI İndekslerine Giren Dergi) identifier identifier

  • Cilt numarası: 27 Konu: 2
  • Basım Tarihi: 2016
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.219-222

Özet

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.