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

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 genera...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2008-03, Vol.146A (6), p.675-682
Main Authors: Spurrier, Jamie L., Weaver, David D.
Format: Article
Language:English
Subjects:
Abnormalities, Multiple - diagnosis
Adult
autosomal dominant inheritance
Biological and medical sciences
Cardiology. Vascular system
Child, Preschool
Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava
corneal anesthesia
Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology
Facial Asymmetry - diagnosis
Family
Female
Follow-Up Studies
Gastroenterology. Liver. Pancreas. Abdomen
hearing loss
Hearing Loss - complications
Hearing Loss - congenital
Hearing Loss - diagnosis
Heart
Hirschsprung disease
Humans
Infant
Intellectual Disability - complications
Intellectual Disability - diagnosis
Male
Malformations
Medical genetics
Medical sciences
Middle Aged
multiple congenital anomalies
Non tumoral diseases
Otorhinolaryngology. Stomatology
Pedigree
peripapillary choriocapillaris
persistent ductus arteriosus
retinal pigment epithelium (RPE)
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Syndrome
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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. © 2008 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32203