[Report of an atypical case of Goldenhar syndrome].
The authors report an atypical case of Goldenhar syndrome characterized by hemifacial and cranial hypoplasia associated with severe microtia and anophthalmia on the right side, antimongoloid palpebral fissures, epibulbar epidermoid, corneal anesthesia and preauricular tags on the left side. The bilateral presence of characteristic features of Goldenhar syndrome is rare and lends support to the possibility that the patient presents an intermediate form of developmental defect of the first branchial arch. The differential diagnosis is discussed.
D000293:Adolescent; D000853:Anophthalmos / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006053:Goldenhar Syndrome / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis*; D012886:Skull / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed
A propos d'un cas atypique de syndrome de Goldenhar.