Goldenhar Syndrome

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  • Ｇｏｌｄｅｎｈａｒ症候群
  • Goldenhar ショウコウグン

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Goldenhar syndrome, known as oculoauriculo vertebral dysplasia, is characterized by malformations of eyes, ears and vertebral bones and sometimes associated with unilateral facial hypoplasia. However, we have no criteria at present to distinguish this syndrome from other similar diseases or syndrome including mandibulofaial dysostosis, hemifacial microsomia etc. We think it better to call this so-called Goldenhar syndrome.<br>As there have been almost no reports about pathological findings of this syndrome, we can't be sure about the pathological features, but the common histopathological findings of our two cases are renal cortical cysts, enlargement of Graaf ian follicle, increased and enlarged islets of pancreas, and involution of thymus. These findings are the features of serious congenital malformations including central nervous system. The etiology of so-called Goldenhar syndrome is not known, but we postulate certain causes that would make these malformations of eyes, ears, vertebral bones, heart, both extremities, facial bones etc., and this would occur at the early stage of four weeks gestation.<br>Associated malformations such as anterior chest wall heterotopic exostosis, situs inver-sus totalis observed in our first case, and esophagotracheal fistula observed in the second case, have not been reported. But the dermoid cyst of the Pith ventricle has been pre-viously noted in the literature. Thus, the presence of dermoid cyst in our second case of three-days-old and 1360g of birth weight is very interesting.

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