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Delleman Oorthuys Syndrome
Oculocerebrocutaneous or Delleman syndrome is a rare congenital syndrome characterized by microphthalmia/anophthalmia with or without orbital cysts, focal skin defects, intracranial cysts and skin appendages. We here report a case of 1-year-old male child with periocular skin tags, lid colobomas, an...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2015
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302468/ https://www.ncbi.nlm.nih.gov/pubmed/25624688 http://dx.doi.org/10.4103/0974-9233.148363 |
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author | Rizvi, Syed Wajahat A. Siddiqui, Mohammed Azfar Khan, Adeeb A. Siddiqui, Ziya |
author_facet | Rizvi, Syed Wajahat A. Siddiqui, Mohammed Azfar Khan, Adeeb A. Siddiqui, Ziya |
author_sort | Rizvi, Syed Wajahat A. |
collection | PubMed |
description | Oculocerebrocutaneous or Delleman syndrome is a rare congenital syndrome characterized by microphthalmia/anophthalmia with or without orbital cysts, focal skin defects, intracranial cysts and skin appendages. We here report a case of 1-year-old male child with periocular skin tags, lid colobomas, and dermal hypoplasia. The patient had delayed developmental milestones and history of tonic-clonic seizures. Magnetic resonance imaging of the head revealed a large arachnoid cyst, aplastic cerebellar vermis and polymicrographic pattern of the cerebral cortex. A complex cyst of spleen was also noted on abdominal ultrasonography. Orbital cysts depending on the size can be excised or left alone. Neuroimaging evaluation of patients with congenital orbital cysts and skin appendages is emphasized for early and appropriate management. |
format | Online Article Text |
id | pubmed-4302468 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-43024682015-01-26 Delleman Oorthuys Syndrome Rizvi, Syed Wajahat A. Siddiqui, Mohammed Azfar Khan, Adeeb A. Siddiqui, Ziya Middle East Afr J Ophthalmol Case Report Oculocerebrocutaneous or Delleman syndrome is a rare congenital syndrome characterized by microphthalmia/anophthalmia with or without orbital cysts, focal skin defects, intracranial cysts and skin appendages. We here report a case of 1-year-old male child with periocular skin tags, lid colobomas, and dermal hypoplasia. The patient had delayed developmental milestones and history of tonic-clonic seizures. Magnetic resonance imaging of the head revealed a large arachnoid cyst, aplastic cerebellar vermis and polymicrographic pattern of the cerebral cortex. A complex cyst of spleen was also noted on abdominal ultrasonography. Orbital cysts depending on the size can be excised or left alone. Neuroimaging evaluation of patients with congenital orbital cysts and skin appendages is emphasized for early and appropriate management. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4302468/ /pubmed/25624688 http://dx.doi.org/10.4103/0974-9233.148363 Text en Copyright: © Middle East African Journal of Ophthalmology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Rizvi, Syed Wajahat A. Siddiqui, Mohammed Azfar Khan, Adeeb A. Siddiqui, Ziya Delleman Oorthuys Syndrome |
title | Delleman Oorthuys Syndrome |
title_full | Delleman Oorthuys Syndrome |
title_fullStr | Delleman Oorthuys Syndrome |
title_full_unstemmed | Delleman Oorthuys Syndrome |
title_short | Delleman Oorthuys Syndrome |
title_sort | delleman oorthuys syndrome |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4302468/ https://www.ncbi.nlm.nih.gov/pubmed/25624688 http://dx.doi.org/10.4103/0974-9233.148363 |
work_keys_str_mv | AT rizvisyedwajahata dellemanoorthuyssyndrome AT siddiquimohammedazfar dellemanoorthuyssyndrome AT khanadeeba dellemanoorthuyssyndrome AT siddiquiziya dellemanoorthuyssyndrome |