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.
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Authors | A M Yusufoğlu, E Cetinkaya, S Ceylaner, Z Aycan, E Kibar, F Ekici, M Kizilgün |
Journal | Genetic counseling (Geneva, Switzerland)
(Genet Couns)
Vol. 19
Issue 2
Pg. 173-6
( 2008)
ISSN: 1015-8146 [Print] Switzerland |
PMID | 18618991
(Publication Type: Case Reports, Journal Article, Review)
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Chemical References |
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Topics |
- Child
- Dwarfism, Pituitary
- Goldenhar Syndrome
- Human Growth Hormone
(deficiency)
- Humans
- Male
- Mitral Valve
(abnormalities)
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