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

Jamie L. Spurrier, David Weaver

Research output: Contribution to journalArticle

1 Citation (Scopus)

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

Fingerprint

Bilateral Hearing Loss
Ductus Arteriosus
Hirschsprung Disease
Retinal Pigment Epithelium
Sensorineural Hearing Loss
Intellectual Disability
Differential Diagnosis
Anesthesia
Ramos Arroyo Clark syndrome

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)

Cite this

Ramos-Arroyo syndrome : Long-term follow-up of previously reported family. / Spurrier, Jamie L.; Weaver, David.

In: American Journal of Medical Genetics, Part A, Vol. 146, No. 6, 15.03.2008, p. 675-682.

Research output: Contribution to journalArticle

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