Goldenhar syndrome is a congenital disorder with diverse clinical presentation. This case series describes variousclinical manifestations of Goldenhar Syndrome. Materials and Methods: 11 patients at least two of the described features of Goldenharsyndrome were randomly included in the study to form a case series. Clinical data of all these subjects was documented, described inpercentages and analyzed. Results: Out of the 11 patients studied, 6 were females and 5 males. Mean age was 7.3 years (ranging from 1year to 23 years). 7 (63.6%) patients had a limbal dermoid, 6 (54.5%) patient had mandibular hypoplasia, whereas only 3(27.3%)presented with hemifacial microsomia. Spinal defects and polydactyly were present in (36.4%) patients each. There was one patient (9%)who had both microphthalmia and lid coloboma in addition to limbal dermoid. Similarly, renal defect (atrophic kidney), cleft upper lip andpalate and CNS defect (7th nerve palsy) were present in one patient (9%) each. None of our patients had either cardiac or GIT defect.Conclusions: In our study we were able to document the variable manifestations of Goldenhar syndrome with their frequencies. Thisknowledge base will help us in planning treatment and assistance strategies or these patients.
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)