التفاصيل البيبلوغرافية
| العنوان: |
Ramos-Arroyo syndrome: confirmation of an entity |
| المؤلفون: |
Mike Cosgrove, Madeleine J. Tooley, David Laws, Daniela T. Pilz |
| المصدر: |
American journal of medical genetics. Part A. (10) |
| سنة النشر: |
2010 |
| مصطلحات موضوعية: |
medicine.medical_specialty, Hearing loss, Sensorineural deafness, Deafness, Short stature, Corneal Diseases, Retinal Diseases, Corneal anesthesia, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Ramos-Arroyo syndrome, Ductus Arteriosus, Patent, Genetics (clinical), Retinal pigment epithelium, business.industry, Dysautonomia, Facies, medicine.disease, Dermatology, medicine.anatomical_structure, Child, Preschool, Female, medicine.symptom, business |
| الوصف: |
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. |
| تدمد: |
1552-4833 |
| URL الوصول: |
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22ddca9c86fd3dc9325b5404f8e6e3a4
https://pubmed.ncbi.nlm.nih.gov/21910235 |
| حقوق: |
CLOSED |
| رقم الأكسشن: |
edsair.doi.dedup.....22ddca9c86fd3dc9325b5404f8e6e3a4 |
| قاعدة البيانات: |
OpenAIRE |
