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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...

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Autores principales: Rizvi, Syed Wajahat A., Siddiqui, Mohammed Azfar, Khan, Adeeb A., Siddiqui, Ziya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
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.
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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
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