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K. Lim, Y.F. Choong, P. Watts, E. Little, L. Beck; Goldenhar Syndrome and Cri-du-chat Syndrome: A Contiguous Gene Deletion Syndrome? . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1499.
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Purpose: To report the association between Goldenhar syndrome and cri-du-chat syndrome. Methods:A full term male infant born to non-consanguineous parents was noted to have the clinical features of both Goldenhar and cri-du-chat syndromes. Dysmorphic features included bilateral pre-auricular tags, rotated ears, bilateral epicanthic folds, a left epibulbar lipodermoid and left hemifacial microsomia. In addition, he had microagnathia, epicanthic folds and a high-pitched cat-like cry characteristic of cri-du-chat syndrome. Chromosomal analysis and fluorescence in-situ hybridisation studies (FISH) were performed. Results: Chromosomal analysis and fluorescence in-situ hybridisation (FISH) studies revealed an unbalanced karyoptype with a terminal deletion of segment p14 on the short arm of chromosome 5, consistent with the cri-du-chat locus. Conclusions: An association between Goldenhar syndrome and cri-du-chat syndrome has not been previously reported. Chromosome 5p14 may contain a gene implicated in Goldenhar Syndrome.
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