Goldenhar Syndrome and Cri-du-chat Syndrome: A Contiguous Gene Deletion Syndrome?

Abstract

Abstract: : 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.

Keywords: genetics • clinical (human) or epidemiologic studies: bio