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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.

Hypoplastic sacrum

合計: 1

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PMID (PMCID)
18049085	FEMALE
	Progressive noninfectious anterior vertebral fusion in a girl with axial mesodermal dysplasia spectrum.
	Al Kaissi A, Grill F, Alexander K, Varga F, Klaushofer K. Clin Dysmorphol. 2008;17(1):65-8.
	Her facial dysmorphism was compatible with Goldenhar syndrome and in addition, she had anterior noninfectious vertebral fusions of the cervical and the thoracolumbar vertebrae, a congenital dermal sinus and a hypoplastic sacrum.