title: Goldenhar and cri-du-chat syndromes: a contiguous gene deletion syndrome?
abstract: We report a full-term male infant born to nonconsanguinous parents who had clinical features of Goldenhar syndrome and cri du chat syndrome. At birth, the infant was noted to have dysmorphic features with bilateral preauricular tags, rotated ears, bilateral epicanthic folds, a left epibulbar lipodermoid, and an accessory left nipple. After he was assessed for feeding difficulty and tachypnea, he was found to have esophageal atresia with tracheoesophageal fistula. In addition, he had a high-pitched, cat-like cry, characteristic of cri-du-chat syndrome. He also failed a hearing test. Chromosomal analysis and fluorescence in situ hybridisation studies showed an unbalanced karyotype with a terminal deletion of the segment p14 on the short arm of chromosome 5, which is consistent with the cri-du-chat locus. The association of Goldenhar syndrome and cri-du-chat syndrome in this patient suggests that the chromosome 5p14 locus may harbor a gene implicated with Goldenhar syndrome.
authors.affiliation: Department of Ophthalmology, University Hospital of Wales, Cardiff, UK.
authors.forename: Yee Fong
authors.initials: YF
authors.lastname: Choong
authors.forename: Patrick
authors.initials: P
authors.lastname: Watts
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Little
authors.forename: Lyn
authors.initials: L
authors.lastname: Beck
mesh_terms: D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D017353:Gene Deletion; D006053:Goldenhar Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male