title: Ramos-Arroyo syndrome: long-term follow-up of previously reported family.
abstract: Here we report on a family with corneal anesthesia, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, unusual facial appearance, persistent ductus arteriosus, Hirschsprung disease, and moderate mental retardation. The first two generations of this family were reported previously by Ramos-Arroyo et al. [Ramos-Arroyo et al., 1987]. Two further affected individuals have been born into this family and we have observed additional manifestations not previously reported that appear to be part of this syndrome. The differential diagnosis of the condition is also discussed. We think this is a distinct autosomal dominant syndrome with variable expressivity, and have named the disorder the Ramos-Arroyo syndrome.
authors.affiliation: Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA. spurrier_j@kids.wustl.edu
authors.forename: Jamie L
authors.initials: JL
authors.lastname: Spurrier
authors.forename: David D
authors.initials: DD
authors.lastname: Weaver
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000328:Adult; D002675:Child, Preschool; D005146:Facial Asymmetry / Q000175:diagnosis*; D005190:Family; D005260:Female; D005500:Follow-Up Studies; D034381:Hearing Loss / Q000150:complications / Q000151:congenital / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome