title: Ramos-Arroyo syndrome: confirmation of an entity.
abstract: In 1987, Ramos-Arroyo et al. described a family with a previously unreported combination of features, which included corneal anesthesia, short stature, sensorineural deafness, learning difficulties, and a characteristic facial appearance. The family was reviewed in 2008 and additional features were noted. The name Ramos-Arroyo syndrome was proposed. The condition can be delineated by corneal anesthesia, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, unusual facial appearance, persistent ductus arteriosus, Hirschprung disease, short stature, and intellectual disability. No other patient has been described since. Here, we report on a 5-year-old girl with features consistent with Ramos-Arroyo syndrome. We propose an overlap of this condition with dysautonomia syndromes.
authors: Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, UK.
authors: Madeleine J
authors: MJ
authors: Tooley
authors: Mike
authors: M
authors: Cosgrove
authors: David E
authors: DE
authors: Laws
authors: Daniela T
authors: DT
authors: Pilz
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002675:Child, Preschool; D003316:Corneal Diseases / Q000151:congenital* / Q000473:pathology; D003638:Deafness / Q000473:pathology*; D004374:Ductus Arteriosus, Patent / Q000473:pathology*; D019066:Facies; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D012164:Retinal Diseases / Q000151:congenital* / Q000473:pathology