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Ramos‐Arroyo syndrome: Confirmation of an entity
Author(s) -
Tooley Madeleine J.,
Cosgrove Mike,
Laws David E.,
Pilz Daniela T.
Publication year - 2011
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.34209
Subject(s) - sensorineural hearing loss , short stature , medicine , dysautonomia , girl , hearing loss , disease , audiology , psychology , pediatrics , pathology , developmental psychology
In 1987, Ramos‐Arroyo et al. described a family with a previously unreported combination of features, which included corneal anesthesia, short stature, sensorineural deafness, learning difficulties, and a characteristic facial appearance. The family was reviewed in 2008 and additional features were noted. The name Ramos‐Arroyo syndrome was proposed. The condition can be delineated by corneal anesthesia, absence of the peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, unusual facial appearance, persistent ductus arteriosus, Hirschprung disease, short stature, and intellectual disability. No other patient has been described since. Here, we report on a 5‐year‐old girl with features consistent with Ramos‐Arroyo syndrome. We propose an overlap of this condition with dysautonomia syndromes. © 2011 Wiley‐Liss, Inc.