Report of a case of Raine syndrome and literature review
| Autor: | Mohammed Zain Seidahmed, Anas M. Alazami, Omer Bashir Abdelbasit, Khalid Al Hussein, Abeer M. Miqdad, Omar Abu-Sa'da, Tareq Mustafa, Sarah Bahjat, Fowzan S. Alkuraya |
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| Rok vydání: | 2015 |
| Předmět: |
Male
Exophthalmos Choanal atresia Raine syndrome Consanguinity otorhinolaryngologic diseases Genetics medicine Humans Abnormalities Multiple Cerebellar hypoplasia Genetics (clinical) Extracellular Matrix Proteins business.industry Casein Kinase I Fontanelle Pachygyria Infant Newborn Calcinosis Anatomy medicine.disease Pedigree Midface hypoplasia medicine.anatomical_structure Mutation Generalized osteosclerosis medicine.symptom business Lissencephaly Osteosclerosis |
| Zdroj: | American journal of medical genetics. Part A. (10) |
| ISSN: | 1552-4833 |
| Popis: | We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. New features in our patient are cerebellar hypoplasia and pachygyria. We review the literature and conclude that the triad of hypoplastic nose, exophthalmos and generalized osteosclerosis and/or intracranial calcification is consistent in all molecularly confirmed cases. © 2015 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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