Goldenhar syndrome
From WikiLectures
Named after the Belgian-born American ophthalmologist Maurice Goldenhar.[1]
Genetic essence[edit | edit source]
- OMIM: 164210.
- Inheritance: most cases are sporadic, the described inheritance is autosomal dominant, cases of autosomal recessive inheritance were previously described.[2]
Characteristic features[edit | edit source]
- microphthalmia;
- congenital cataract;
- preauricular fistula;
- possibly also atresia of the ear canal;
- unilateral facial hypoplasia;
- macrostomia;
- anomalous position of the teeth;
- overall retardation in psychological development;
- anomalies of ribs and vertebrae.
Links[edit | edit source]
References[edit | edit source]
- ↑ ENERSEN, Ole Daniel. Whonamedit - Maurice Goldenhar [online]. [cit. 2011-04-23]. <http://www.whonamedit.com/doctor.cfm/2048.html>.
- ↑ OMIM : Hemifacial microsomia - Clinical synopsis [database]. Johns Hopkins University. [cit. 2011-04-23]. <http://omim.org/entry/164210>.
Used literature[edit | edit source]
- LAZOVSKIS, Ilmars – DOBIÁŠ, Václav. Přehled klinických symptomů a syndromů. 2. edition. Avicenum, zdravotnické nakladatelství, 1990. ISBN 80-201-0043-1.
