Goldenhar syndrome

Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.

Pulmonary hypoplasia



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PMID (PMCID)
6662905
FEMALE Infant, Newborn
Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar syndrome.
Wilson GN, Barr M Jr.
J Craniofac Genet Dev Biol. 1983;3(4):313-6.
Anomalies typical of Goldenhar syndrome included an epibulbar dermoid, auricular malformation, hemifacial microsomia, vertebral anomalies, cardiac defects, pulmonary hypoplasia, renal hypoplasia, and limb defects.