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.

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues.


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PMID (PMCID)
17245565
 MIXED_SAMPLE Adult
Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects.
Al Kaissi A, Ben Chehida F, Gharbi H, Ben Ghachem M, Grill F, Varga F, Klaushofer K.
Eur Spine J. 2007;16 Suppl 3:265-70.
A persistent bifid anterior and posterior arch of the atlas beyond the age of 3-4 years is observed in skeletal dysplasias, Goldenhar syndrome, Conradi syndrome, and Down's syndrome.