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Case ReportCASE REPORTS
Open Access

Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature

Adel A. Mahmoud, Maysara M. Abdul-Aziz, Saeed M. Al-Tala and Fatimah O. Ahmed
Neurosciences Journal July 2006, 11 (3) 210-212;
Adel A. Mahmoud
Neuroscience Department, Division of Pediatric Neurology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia. Tel. +966 (1) 4656666 Ext. 1433. Fax. +966 (1) 4656666 Ext. 1391. E-mail: [email protected] / [email protected]
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Maysara M. Abdul-Aziz
Neuroscience Department, Division of Pediatric Neurology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia. Tel. +966 (1) 4656666 Ext. 1433. Fax. +966 (1) 4656666 Ext. 1391. E-mail: [email protected] / [email protected]
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Saeed M. Al-Tala
Neuroscience Department, Division of Pediatric Neurology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia. Tel. +966 (1) 4656666 Ext. 1433. Fax. +966 (1) 4656666 Ext. 1391. E-mail: [email protected] / [email protected]
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Fatimah O. Ahmed
Neuroscience Department, Division of Pediatric Neurology, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia. Tel. +966 (1) 4656666 Ext. 1433. Fax. +966 (1) 4656666 Ext. 1391. E-mail: [email protected] / [email protected]
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Abstract

Microcephaly, retinal dysplasia, pedal edema syndrome is a rare syndrome and possibly under diagnosed. We could find less than 25 cases reported in the literature. Patients were initially categorized as having either microcephaly and lymphedema or microcephaly and chorioretinal dysplasia. The existence of the 3 criteria in the same patients is reported. Other features such as mental retardation and short stature were noticed in other patients. In the Pediatric Department of the Armed Forces Hospital Southern Region, Kingdom of Saudi Arabia, we report a case with all clinical manifestations described in the above-related syndromes. The girl has microcephaly, retinal dysplasia, pedal edema, short stature, mental retardation, and some other dysmorphic features. The parents are not relatives, but both have retinal dysplastic changes. This report documents the existence of all different features reported in the literature in one patient, suggesting that different clinical features of reported patients are possibly the variable expression of the same syndrome.

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Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work.

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Neurosciences Journal: 11 (3)
Neurosciences Journal
Vol. 11, Issue 3
1 Jul 2006
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Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature
Adel A. Mahmoud, Maysara M. Abdul-Aziz, Saeed M. Al-Tala, Fatimah O. Ahmed
Neurosciences Journal Jul 2006, 11 (3) 210-212;

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Microcephaly, retinal dysplasia, pedal edema, mental retardation, and short stature
Adel A. Mahmoud, Maysara M. Abdul-Aziz, Saeed M. Al-Tala, Fatimah O. Ahmed
Neurosciences Journal Jul 2006, 11 (3) 210-212;
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© 2025 Neurosciences Journal Neurosciences is copyright under the Berne Convention and the International Copyright Convention. All rights reserved. Neurosciences is an Open Access journal and articles published are distributed under the terms of the Creative Commons Attribution-NonCommercial License (CC BY-NC). Readers may copy, distribute, and display the work for non-commercial purposes with the proper citation of the original work. Electronic ISSN 1658-3183. Print ISSN 1319-6138.

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