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Ramos‐Arroyo syndrome: Long‐term follow‐up of previously reported family
Author(s) -
Spurrier Jamie L.,
Weaver David D.
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32203
Subject(s) - term (time) , medicine , psychology , pediatrics , physics , quantum mechanics
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.