Volume 6, Issue 3, September 2020, Page: 373-380
Skeletal and Neurological Features of Seckel Syndrome and Microcephalic Osteodysplastic Primodrial Dwarfism – A Review of the Literature
Abd-Alla Mona, School of Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Koenigs Ingo, Department and Clinic of Pediatric Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Fritzsche Sophie Friederike, Department of Neurosurgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Kloth Katja, Department of Pediatric Hematology and Oncology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Singer Dominique, Division of Neonatology and Pediatric Intensive Care Medicine, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Reinshagen Konrad, Department and Clinic of Pediatric Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Trah Julian, Department and Clinic of Pediatric Surgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
Received: Jul. 6, 2020;       Accepted: Aug. 3, 2020;       Published: Sep. 10, 2020
DOI: 10.11648/j.ajp.20200603.44      View  80      Downloads  40
Abstract
Backround: Primordial dwarfism is a rare disease pattern that is notable due to its clinical appearance. The first description was made in 1960 and created the initial image of the "bird-like" face with severe growth retardation. The condition then was called Seckel syndrome. However, not every child with primordial dwarfism met the criteria of Seckel syndrome; hence a sub-classification of microcephalic osteodysplastic primordial dwarfism (MOPD) was introduced. This in turn caused far-reaching confusion because many of the mentioned manifestations overlapped. Objectives: By this study the authors try to identify syndrome specific features for the respective clinical pictures with focus on skeletal changes and the associated neurological risks. Method: Medical Databases search was done for the Keywords: Seckel Syndrome, MOPD and Microcephalic Osteoplastic Primordial Dwarfism. All Articles until 2020 were included with special attention to case and case control studies. Results: Some clinical features or the common appearance of features appear to make a clear differentiation of Seckel syndrome, MOPD I/III and MOPD II possible. Conclusion: This review aims to highlight the differences in the morphological and skeletal appearances and to represent possible associated neurological co-morbidities that require special observation. Although for detailed differentiation genetic analyses of associated mutations might be the only.
Keywords
Seckel Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism, MOPD, Dwarfism, Bird-headed
To cite this article
Abd-Alla Mona, Koenigs Ingo, Fritzsche Sophie Friederike, Kloth Katja, Singer Dominique, Reinshagen Konrad, Trah Julian, Skeletal and Neurological Features of Seckel Syndrome and Microcephalic Osteodysplastic Primodrial Dwarfism – A Review of the Literature, American Journal of Pediatrics. Vol. 6, No. 3, 2020, pp. 373-380. doi: 10.11648/j.ajp.20200603.44
Copyright
Copyright © 2020 Authors retain the copyright of this article.
This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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