Ramos-Arroyo syndrome: Long-term follow-up of previously reported family

Jamie L. Spurrier, David D. Weaver

Research output: Contribution to journalArticle

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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.

Original languageEnglish (US)
Pages (from-to)675-682
Number of pages8
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number6
DOIs
StatePublished - Mar 15 2008

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Keywords

  • Autosomal dominant inheritance
  • Corneal anesthesia
  • Hearing loss
  • Hirschsprung disease
  • Multiple congenital anomalies
  • Peripapillary choriocapillaris
  • Persistent ductus arteriosus
  • Retinal pigment epithelium (RPE)

ASJC Scopus subject areas

  • Genetics(clinical)

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