A RARE CASE OF HANHART SYNDROME WITH MILD DEVELOPMENTAL DELAY
GENETIC COUNSELING, cilt.27, sa.2, ss.219-222, 2016 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 27 Sayı: 2
- Basım Tarihi: 2016
- Dergi Adı: GENETIC COUNSELING
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.219-222
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Evet
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.