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), 2024. Published by Science Publishing Group |
Seckel Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism, MOPD, Dwarfism, Bird-headed
| [1] | Seckel, H. P. ‘Premature thelarche’ and ‘premature metratarch’ followed by normal adolescence. J. Pediatr. 57, 204–209 (1960). |
| [2] | Majewski, F., & Goecke, T. Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome. Am. J. Med. Genet. 12, 7–21 (1982). |
| [3] | Haan, E. A., et al. Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. Am. J. Med. Genet. 33, 224–227 (1989). |
| [4] | Meinecke, P., & Passarge, E. Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. J. Med. Genet. 28, 795–800 (1991). |
| [5] | Meinecke, P., Schaefer, E., & Wiedemann, H. R. Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III. Am. J. Med. Genet. 39, 232–236 (1991). |
| [6] | Winter, R. M., Wigglesworth, J., & Harding, B. N. Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III. Am. J. Med. Genet. 21, 569–574 (1985). |
| [7] | Pakseresht, S., et al. Microcephalic Osteodysplastic Primordial Dwarfism Type I in Two Siblings Aged 2.5 Years and 18 Gestational Weeks. Genet. 3rd Millenn. 13, 3970–3975 (2015). |
| [8] | Vardhan, B. H., Muthu, M. S., Saraswathi, K., & Koteeswaran, D. Bird-Headed Dwarf of Seckel. J. Indian Soc. Pedod. Prev. Dent. 25, 8 (2007). |
| [9] | Kilic, A., et al. Seckel syndrome with cutaneous pigmentary changes: two siblings and a review of the literature. Postepy Dermatol. Alergol. 32, 470–474 (2015). |
| [10] | Napolitano, R., Maruotti, G. M., Quarantelli, M., Martinelli, P., & Paladini, D. Prenatal diagnosis of Seckel Syndrome on 3-dimensional sonography and magnetic resonance imaging. J. Ultrasound Med. Off. J. Am. Inst. Ultrasound Med. 28, 369–374 (2009). |
| [11] | Takikawa, K. M., et al. Perinatal findings of Seckel syndrome: a case report of a fetus showing primordial dwarfism and severe microcephaly. Fetal Diagn. Ther. 24, 405–408 (2008). |
| [12] | Vascone, C., et al. Antenatal diagnosis of Seckel Syndrome: a rare case report. J. Prenat. Med. 8, 70–72 (2014). |
| [13] | Bhutia, E., Verma, A., Gupta, A. K., & Maria, A. An unusual association of microcephalic osteodysplastic primordial dwarfism type I with cardiac and brain anomalies. J. Clin. Neonatol. 3, 53–54 (2014). |
| [14] | Majoor-Krakauer, D. F., Wladimiroff, J. W., Stewart, P. A., van de Harten, J. J., & Niermeijer, M. F. Microcephaly, micrognathia, and bird-headed dwarfism: prenatal diagnosis of a Seckel-like syndrome. Am. J. Med. Genet. 27, 183–188 (1987). |
| [15] | Gupta, A., Fazal, T. S., & Arora, R. Antenatal Diagnosis of Seckel Syndrome. J. Obstet. Gynaecol. India 64, 6–8 (2014). |
| [16] | Aktas, Z., Yuksel, N., Kula, S., Akman, A., & Hasanreisoglu, B. Childhood glaucoma as an ophthalmic manifestation of Seckel syndrome. J. Glaucoma 22, e3-4 (2013). |
| [17] | Al-Dosari, M. S., Shaheen, R., Colak, D., & Alkuraya, F. S. Novel CENPJ mutation causes Seckel syndrome. J. Med. Genet. 47, 411–414 (2010). |
| [18] | Arslan, D., et al. A case of Seckel syndrome with tricuspid atresia. Genet. Couns. Geneva Switz. 25, 171–175 (2014). |
| [19] | Brackeen, A., Babb-Tarbox, M., & Smith, J. Pigmentary changes and atopic dermatitis in a patient with Seckel syndrome. Pediatr. Dermatol. 24, 53–56 (2007). |
| [20] | Butler, M. G., Hall, B. D., Maclean, R. N., & Lozzio, C. B. Do some patients with Seckel syndrome have hematological problems and/or chromosome breakage? Am. J. Med. Genet. 27, 645–649 (1987). |
| [21] | Can, E., et al. A case of Seckel syndrome with Tetralogy of Fallot. Genet. Couns. Geneva Switz. 21, 49–51 (2010). |
| [22] | Capovilla, G., et al. Seckel’s syndrome and malformations of cortical development: report of three new cases and review of the literature. J. Child Neurol. 16, 382–386 (2001). |
| [23] | Panigrahi, I., Kaur, S., Kulkarni, K., Das, R., & Marwaha, R. K. Seckel syndrome with chromosomal 18 deletion. Indian J. Pediatr. 76, 1270–1271 (2009). |
| [24] | Griffith, E., et al. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat. Genet. 40, 232–236 (2008). |
| [25] | Ogi, T., et al. Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. PLoS Genet. 8, e1002945 (2012). |
| [26] | Shaheen, R., Al Tala, S., Almoisheer, A., & Alkuraya, F. S. Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism. J. Med. Genet. 51, 814–816 (2014). |
| [27] | Goodship, J., et al. Autozygosity mapping of a seckel syndrome locus to chromosome 3q22. 1-q24. Am. J. Hum. Genet. 67, 498–503 (2000). |
| [28] | Grewal, A., et al. Palatoplasty in a patient with Seckel syndrome: an anesthetic challenge. Braz. J. Anesthesiol. Elsevier 64, 216–218 (2014). |
| [29] | Kilinç, M. O., et al. Is the novel SCKL3 at 14q23 the predominant Seckel locus? Eur. J. Hum. Genet. EJHG 11, 851–857 (2003). |
| [30] | Shanske, A., Caride, D. G., Menasse-Palmer, L., Bogdanow, A., & Marion, R. W. Central nervous system anomalies in Seckel syndrome: report of a new family and review of the literature. Am. J. Med. Genet. 70, 155–158 (1997). |
| [31] | Willems, M., et al. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J. Med. Genet. 47, 797–802 (2010). |
| [32] | Abou-Zahr, F., et al. Normal expression of the Fanconi anemia proteins FAA and FAC and sensitivity to mitomycin C in two patients with Seckel syndrome. Am. J. Med. Genet. 83, 388–391 (1999). |
| [33] | Kalay, E., et al. CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat. Genet. 43, 23–26 (2011). |
| [34] | Kutlu, R., Alkan, A., Kutlu, O., & Yakinci, C. Seckel syndrome with polyarteritis nodosa. Indian Pediatr. 41, 1158–1161 (2004). |
| [35] | Sorof, J. M., Dow-Smith, C., & Moore, P. J. Severe hypertensive sequelae in a child with Seckel syndrome (bird-like dwarfism). Pediatr. Nephrol. Berl. Ger. 13, 343–346 (1999). |
| [36] | Kumar, R., Rawal, M., Agarwal, S., & Gathwala, G. Semilobar holoprosencephaly in Seckel syndrome. Indian J. Pediatr. 75, 519–520 (2008). |
| [37] | Cherian, M. P. Seckel-like syndrome or Seckel variants? Ann. Saudi Med. 24, 469–472 (2004). |
| [38] | Sophie, S., & Ahmed, T. Dialysis access surgery with Seckel syndrome. Paediatr. Anaesth. 16, 804–805; author reply 805-806 (2006). |
| [39] | Yigit, G., et al. Mutations in CDK5RAP2 cause Seckel syndrome. Mol. Genet. Genomic Med. 3, 467–480 (2015). |
| [40] | Di Bartolomeo, R., et al. Malignant hypertension and cerebral haemorrhage in Seckel syndrome. Eur. J. Pediatr. 162, 860–862 (2003). |
| [41] | Brancati, F., Castori, M., Mingarelli, R., & Dallapiccola, B. Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: clinical report and review of cerebral vascular anomalies. Am. J. Med. Genet. A. 139, 212–215 (2005). |
| [42] | Majewski, F., & Goecke, T. O. Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review. Am. J. Med. Genet. 80, 25–31 (1998). |
| [43] | Shebib, S., Hugosson, C., Sakati, N., & Nyhan, W. L. Osteodysplastic variant of primordial dwarfism. Am. J. Med. Genet. 40, 146–150 (1991). |
| [44] | Spranger, S., et al. Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course. Eur. J. Pediatr. 155, 796–799 (1996). |
| [45] | Masuno, M., et al. Osteodysplastic primordial dwarfism: a case with features of type II. Clin. Dysmorphol. 4, 57–62 (1995). |
| [46] | Galasso, C., Lo-Castro, A., Lalli, C., Cerminara, C., & Curatolo, P. Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II. Pediatr. Neurol. 38, 435–438 (2008). |
| [47] | Piane, M., et al. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene. Am. J. Med. Genet. A. 149A, 2452–2456 (2009). |
| [48] | Kantaputra, P. N. Apparently new osteodysplastic and primordial short stature with severe microdontia, opalescent teeth, and rootless molars in two siblings. Am. J. Med. Genet. 111, 420–428 (2002). |
| [49] | Kilic, E., et al. A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I. Am. J. Med. Genet. A. 167A, 919–921 (2015). |
| [50] | Vichi, G. F., Currarino, G., Wasserman, R. L., Duvina, P. L., & Filippi, L. Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature. Pediatr. Radiol. 30, 644–652 (2000). |
| [51] | Abdel-Salam, G. M. H., et al. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. Am. J. Med. Genet. A. 155A, 2885–2896 (2011). |
| [52] | Abdel-Salam, G. M. H., et al. Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. Am. J. Med. Genet. A. 161A, 1875–1881 (2013). |
| [53] | Klinge, L., Schaper, J., Wieczorek, D., & Voit, T. Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature. Neuropediatrics 33, 309–313 (2002). |
| [54] | Abdel-Salam, G. M. H., et al. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. Am. J. Med. Genet. A. 158A, 1455–1461 (2012). |
| [55] | Majewski, F. Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, and autosomal recessive syndrome. Am. J. Med. Genet. 44, 203–209 (1992). |
| [56] | Berger, A., et al. Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism. J. Med. Genet. 35, 61–64 (1998). |
| [57] | Abdel-Salam, G. M. H., Emam, B. A., Khalil, Y. M., & Abdel-Hamid, M. S. Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g. 55G>A homozygous mutation in RNU4ATAC. Am. J. Med. Genet. A. 170A, 277–282 (2016). |
| [58] | Deniz, K., Kontaş, O., & akçakuş, M. Neonatal hepatitis in 2 siblings with Seckel syndrome. Pediatr. Dev. Pathol. Off. J. Soc. Pediatr. Pathol. Paediatr. Pathol. Soc. 9, 81–85 (2006). |
| [59] | Sarici, D., Akin, M. A., Kara, A., Doganay, S., & Kurtoglu, S. Seckel syndrome accompanied by semilobar holoprosencephaly and arthrogryposis. Pediatr. Neurol. 46, 189–191 (2012). |
| [60] | Krishna, A. G., Scrimgeour, E. M., & Zawawi, T. H. Seckel syndrome in a Yemeni family in Saudi Arabia. Am. J. Med. Genet. 51, 224–227 (1994). |
| [61] | Hopkins, T. E., & Haines, S. J. Rapid development of Chiari I malformation in an infant with Seckel syndrome and craniosynostosis. Case report and review of the literature. J. Neurosurg. 98, 1113–1115 (2003). |
| [62] | Thapa, R., Mallick, D., Biswas, B., & Ghosh, A. Open and closed lip schizencephaly in Seckel syndrome: a case report. J. Child Neurol. 25, 494–496 (2010). |
| [63] | Howanietz, H., Frisch, H., Jedlicka-Köhler, I., & Steger, H. Seckel dwarfism based on a personal case. Klin. Padiatr. 201, 139–141 (1989). |
| [64] | Fitzgerald, B., O’Driscoll, M., Chong, K., Keating, S., & Shannon, P. Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. Brain Dev. 34, 238–243 (2012). |
| [65] | Engel, M., et al. Cranial vault remodeling in microcephalic osteodysplastic primordial dwarfism type II and craniosynostosis. J. Craniofac. Surg. 23, 1407–1409 (2012). |
| [66] | Fukuzawa, R., et al. Autopsy case of microcephalic osteodysplastic primordial ‘dwarfism’ type II. Am. J. Med. Genet. 113, 93–96 (2002). |
| [67] | Unal, Y., Dogan, A. T., Ozkose, Z., & Koksal, F. Anesthetic management of a patient with Seckel syndrome and implanted pacemaker. Paediatr. Anaesth. 18, 676–677 (2008). |
| [68] | Halder, A., et al. Osteodysplastic primordial dwarfism type II with normal intellect but delayed central nervous system myelination. Am. J. Med. Genet. 80, 12–15 (1998). |
| [69] | Kiran, Z., Furqan, S., Farooq, S., & Rashid, O. Microcephalic (majewski) osteodysplastic primordial dwarfism type ii with severe hyperandrogenism. AACE Clin. Case Rep. 3, e166–e169 (2016). |
| [70] | Pierce, M. J., & Morse, R. P. The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature. Am. J. Med. Genet. A. 158A, 606–610 (2012). |
| [71] | Shaheen, R., et al. Mutation in WDR4 impairs tRNA m (7) G46 methylation and causes a distinct form of microcephalic primordial dwarfism. Genome Biol. 16, 210 (2015). |
| [72] | Codd, P. J., Scott, R. M., & Smith, E. R. Seckel syndrome and moyamoya. J. Neurosurg. Pediatr. 3, 320–324 (2009). |
| [73] | D’Angelo, V. A., Ceddia, A. M., Zelante, L., & Florio, F. P. Multiple intracranial aneurysms in a patient with Seckel syndrome. Childs Nerv. Syst. ChNS Off. J. Int. Soc. Pediatr. Neurosurg. 14, 82–84 (1998). |
| [74] | Rahme, R., Crevier, L., Dubois, J., & Mercier, C. Moyamoya-like vasculopathy and Seckel syndrome: just a coincidence? Childs Nerv. Syst. ChNS Off. J. Int. Soc. Pediatr. Neurosurg. 26, 983–986 (2010). |
| [75] | Bober, M. B., et al. Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype. Am. J. Med. Genet. A. 152A, 960–965 (2010). |
| [76] | Kannu, P., Kelly, P., & Aftimos, S. Microcephalic osteodysplastic primordial dwarfism type II: a child with café au lait lesions, cutis marmorata, and moyamoya disease. Am. J. Med. Genet. A. 128A, 98–100 (2004). |
| [77] | Waldron, J. S., et al. Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations. J. Neurosurg. Pediatr. 4, 439–444 (2009). |
| [78] | Alkuraya, F. S. Primordial dwarfism: an update. Curr. Opin. Endocrinol. Diabetes Obes. 22, 55–64 (2015). |
| [79] | Qvist, P., et al. CtIP Mutations Cause Seckel and Jawad Syndromes. PLoS Genet. 7, e1002310 (2011). |
| [80] | Sir, J.-H., et al. A primary microcephaly protein complex forms a ring around parental centrioles. Nat. Genet. 43, 1147–1153 (2011). |
| [81] | Harley, M. E., et al. TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. Nat. Genet. 48, 36–43 (2016). |
| [82] | Dauber, A., et al. Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. J. Clin. Endocrinol. Metab. 97, E2140-2151 (2012). |
| [83] | Karatas, A. F., et al. Hip pathology in Majewski osteodysplastic primordial dwarfism type II. J. Pediatr. Orthop. 34, 585–590 (2014). |
| [84] | Edery, P., et al. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science 332, 240–243 (2011). |
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
Share This Article
Twitter
Linked In
Facebook
Copy
Download@article{10.11648/j.ajp.20200603.44,
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 -
Information
Email: