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1.
Genet Couns ; 19(2): 173-6, 2008.
Article in English | MEDLINE | ID: mdl-18618991

ABSTRACT

Goldenhar syndrome is a rare disorder of unknown etiology. The most frequent findings are vertebral defects, hemifacial microsomia and ear abnormalities. We present an 8-year-old boy with oculo-auriculo-vertebral (Goldenhar) syndrome. He also had a parachute mitral valve and growth hormone deficiency. Parachute mitral valve is a previously unreported finding while growth hormone deficiency was reported just in one case in the literature.


Subject(s)
Dwarfism, Pituitary , Goldenhar Syndrome , Human Growth Hormone/deficiency , Child , Humans , Male , Mitral Valve/abnormalities
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