[Goldenhar syndrome in adults].
The paper presents the case of a 43 year old female patient with multi-malformations syndrome (facio-auriculo-vertebral syndrome), distinguished by alterations of the skeleton, face, sensorial organs and the heart. The syndrome is dominant at young ages and scarce at adults, and the explanation of the favorable evolution could be the lack of severe visceral or central nervous system involvement. The peculiar anomalies of this case are: asymmetric face, epibulbar dermoid, dysplastic ears, auricular tags, conductive and sensorineural deafness, fusion of vertebrae, hemivertebrae, ventricular septal defect.
Mitu
F
F
Facultatea de Medicină Clinica a VI-a Medicală, Universitatea de Medicină şi Farmacie Gr. T. Popa Iaşi.
Voloşciuc
M
M
Mitu
M
M
Arsenescu
C
C
Arhire
O
O
Pandele
G I
GI
Covic
M
M
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D006053:Goldenhar Syndrome / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D011379:Prognosis; D012307:Risk Factors