New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review
| Autor: | Maria Paola Recalcati, Giovanni Vitale, Umberto Balottin, Laura D’Amico, Sabrina Signorini, Camilla Caporali, Cecilia Parazzini, Anna Pichiecchio, Donatella Milani, Stefano Bastianello |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Pathology medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities lcsh:Internal medicine lcsh:QH426-470 Case Report Blepharophimosis 030105 genetics & heredity Microphthalmia Short stature 03 medical and health sciences Intellectual Disability Cerebellum Genetics medicine Humans Microphthalmos Anophthalmia lcsh:RC31-1245 Genetics (clinical) Chromosomes Human Pair 14 Otx Transcription Factors Corpus Callosum Agenesis business.industry Anophthalmos Brain Infant medicine.disease Magnetic Resonance Imaging eye diseases Hypoplasia lcsh:Genetics Phenotype Pituitary Gland Hypoplasia medicine.anatomical_structure Posterior cranial fossa Pituitary Echocardiography medicine.symptom business Gene Deletion OTX2 MRI |
| Zdroj: | BMC Medical Genomics, Vol 11, Iss 1, Pp 1-9 (2018) BMC Medical Genomics |
| ISSN: | 1755-8794 |
| DOI: | 10.1186/s12920-018-0405-3 |
| Popis: | Background Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic syndrome, characterized mainly by microphthalmia/anophthalmia associated with extra-ocular defects such as brain malformations, pituitary abnormalities, short stature and intellectual disability. To date, the spectrum of radiological features observed in patients with OTX2 mutations has never been summarized. Case presentation In this report, we describe a case of large microdeletion encompassing OTX2 but not BMP4 presenting with a syndromic anophthalmia with corpus callosum hypoplasia, pituitary gland hypoplasia and vermian hypoplasia. Conclusion Our case report provides an illustration of the neuroradiological spectrum in a case of OTX2-related syndrome and the first radiological evidence of 14q22.2q23.1 deletion associated posterior cranial fossa anomalies. |
| Databáze: | OpenAIRE |
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