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.

Decreased response to growth hormone stimuation test

Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism.


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PMID (PMCID)
8358046
MALE Child
A case of Goldenhar syndrome associated with growth hormone deficiency.
Nakagawa Y, Takeuchi H, Kubota A, Natsume H, Nasuda K, Endoh A, Toya K, Ogawa H, Igarashi Y.
Jpn J Hum Genet. 1993;38(2):225-8.
We found no untoward effects of the hormone and we consider that treatment with GH is useful for patients who present with Goldenhar syndrome associated with growth hormone deficiency.