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.
| Published in | American Journal of Pediatrics (Volume 6, Issue 3) |
| DOI | 10.11648/j.ajp.20200603.44 |
| Page(s) | 373-380 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2020. Published by Science Publishing Group |
Seckel Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism, MOPD, Dwarfism, Bird-headed
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APA Style
Abd-Alla Mona, Koenigs Ingo, Fritzsche Sophie Friederike, Kloth Katja, Singer Dominique, et al. (2020). Skeletal and Neurological Features of Seckel Syndrome and Microcephalic Osteodysplastic Primodrial Dwarfism – A Review of the Literature. American Journal of Pediatrics, 6(3), 373-380. https://doi.org/10.11648/j.ajp.20200603.44
ACS Style
Abd-Alla Mona; Koenigs Ingo; Fritzsche Sophie Friederike; Kloth Katja; Singer Dominique, et al. Skeletal and Neurological Features of Seckel Syndrome and Microcephalic Osteodysplastic Primodrial Dwarfism – A Review of the Literature. Am. J. Pediatr. 2020, 6(3), 373-380. doi: 10.11648/j.ajp.20200603.44
AMA Style
Abd-Alla Mona, Koenigs Ingo, Fritzsche Sophie Friederike, Kloth Katja, Singer Dominique, et al. Skeletal and Neurological Features of Seckel Syndrome and Microcephalic Osteodysplastic Primodrial Dwarfism – A Review of the Literature. Am J Pediatr. 2020;6(3):373-380. doi: 10.11648/j.ajp.20200603.44
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author = {Abd-Alla Mona and Koenigs Ingo and Fritzsche Sophie Friederike and Kloth Katja and Singer Dominique and Reinshagen Konrad and Trah Julian},
title = {Skeletal and Neurological Features of Seckel Syndrome and Microcephalic Osteodysplastic Primodrial Dwarfism – A Review of the Literature},
journal = {American Journal of Pediatrics},
volume = {6},
number = {3},
pages = {373-380},
doi = {10.11648/j.ajp.20200603.44},
url = {https://doi.org/10.11648/j.ajp.20200603.44},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20200603.44},
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.},
year = {2020}
}
TY - JOUR T1 - Skeletal and Neurological Features of Seckel Syndrome and Microcephalic Osteodysplastic Primodrial Dwarfism – A Review of the Literature AU - Abd-Alla Mona AU - Koenigs Ingo AU - Fritzsche Sophie Friederike AU - Kloth Katja AU - Singer Dominique AU - Reinshagen Konrad AU - Trah Julian Y1 - 2020/09/10 PY - 2020 N1 - https://doi.org/10.11648/j.ajp.20200603.44 DO - 10.11648/j.ajp.20200603.44 T2 - American Journal of Pediatrics JF - American Journal of Pediatrics JO - American Journal of Pediatrics SP - 373 EP - 380 PB - Science Publishing Group SN - 2472-0909 UR - https://doi.org/10.11648/j.ajp.20200603.44 AB - 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. VL - 6 IS - 3 ER -
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