چهارشنبه 26 دی 1403
دوره 7، شماره 2 - ( 1-1398 )
جلد 7 شماره 2 صفحات 120-113 |
برگشت به فهرست نسخه ها
Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:
Vakili R, Hashemian S. Primordial Dwarfism: A Case Series From North East of Iran and Literature Review. J. Pediatr. Rev 2019; 7 (2) :113-120
URL: http://jpr.mazums.ac.ir/article-1-183-fa.html
URL: http://jpr.mazums.ac.ir/article-1-183-fa.html
Primordial Dwarfism: A Case Series From North East of Iran and Literature Review. Journal of Pediatrics Review. 1398; 7 (2) :113-120
چکیده: (7060 مشاهده)
Introduction: Primordial dwarfism is a rare class of genetic disorders, characterized by intrauterine growth retardation, short stature at birth and growth deficiency that persist throughout life. This disorder is caused by various mechanisms such as chromosomal abnormalities, molecular changes and mutation of genes that result in developmental defects, facial dysmorphism and skeletal abnormalities in fetus. Primordial dwarfism includes 5 specific subtypes that their descriptions vary from one type to another. This study aimed to report 7 cases of primordial dwarfism as the first case series study and literature review of this disorder in Iran.
Case Presentations: This study presented primordial dwarfism patients and summarized clinical findings of 7 cases who referred to Pediatric endocrine wards in Imam Reza Hospital, from June 2016 to September 2017. The cases suffered from severe growth retardation and clinical features of this disorder that were not explained by other disorders. We also conducted a literature review about primordial dwarfism on Google Scholar, Medline, and PubMed to compare our results with other reports. Seven patients (5 females and 2 males) aged between 18 months and 12 years were identified, during the study. The most prevalent referring symptoms were growth retardation, presenting in all cases. Other clinical signs and symptoms included intrauterine growth retardation, low birth weight, specific clinical features such as microcephaly, narrow face, high pitch voice, prominent nose, etc. Biochemical and imaging studies were performed to rule out other diseases that can cause growth retardation. The diagnosis of primordial dwarfism was made based o clinical presentation.
Conclusions: This review will provide an overview of the clinical aspects and different subtypes of primordial dwarfism disorder and draw the attention of clinicians for diagnose and further evaluations of this disorder.
Case Presentations: This study presented primordial dwarfism patients and summarized clinical findings of 7 cases who referred to Pediatric endocrine wards in Imam Reza Hospital, from June 2016 to September 2017. The cases suffered from severe growth retardation and clinical features of this disorder that were not explained by other disorders. We also conducted a literature review about primordial dwarfism on Google Scholar, Medline, and PubMed to compare our results with other reports. Seven patients (5 females and 2 males) aged between 18 months and 12 years were identified, during the study. The most prevalent referring symptoms were growth retardation, presenting in all cases. Other clinical signs and symptoms included intrauterine growth retardation, low birth weight, specific clinical features such as microcephaly, narrow face, high pitch voice, prominent nose, etc. Biochemical and imaging studies were performed to rule out other diseases that can cause growth retardation. The diagnosis of primordial dwarfism was made based o clinical presentation.
Conclusions: This review will provide an overview of the clinical aspects and different subtypes of primordial dwarfism disorder and draw the attention of clinicians for diagnose and further evaluations of this disorder.
نوع مطالعه: Case & Review |
دریافت: 1396/11/26 | پذیرش: 1397/3/9 | انتشار: 1398/1/12
دریافت: 1396/11/26 | پذیرش: 1397/3/9 | انتشار: 1398/1/12
فهرست منابع
1. Khaetarpal P, Das Kh, Panigrahi I, Munshi A. Primoral dwarfism: Overview of clinical and genetic aspects. Molecular Genetics and Genomics. 2016; 291(1):1-15. [DOI:10.1007/s00438-015-1110-y] [PMID]) [DOI:10.1007/s00438-015-1110-y]
2. Codd PJ, Scott RM, Smith ER. Seckel syndrome and moyamoya: Case report. Journal of Neurosurgery: Pediatrics. 2009; 3(4):320-4. [DOI:10.3171/2008.12.PEDS08205] [PMID] [DOI:10.3171/2008.12.PEDS08205]
3. Klingsein A, Jackson AP. Mechanisms and pathways of growth failure in primordial dwarfism. Genes Development. 2011; 25(19):2011-24. [DOI:10.1101/gad.169037] [PMID] [PMCID] [DOI:10.1101/gad.169037]
4. Filonava L, Torres AG, de Pouplana LR. A novel cause for primordial dwarfism revealed: Defective tRNA modification. Genome Biology. 2015; 16(1):216. [DOI:10.1186/s13059-015-0786-y] [PMID] [PMCID]
5. Vardhan BH, Muthu MS, Saraswathi K, Koteeswaran D. Bird-headed dwarf of Seckel. Journal of Indian Society of Pedodontics and Preventive Dentistry. 2007; 25(5):8-9.
6. Seckel HP, editor. Bird-headed dwarfs: Studies in developmental anthropology including human proportions. Pediatrics. 1961; 27(3):426-9.
7. Seymen F, Tuna b, Kayserili H. Seckel syndrome: Report accuses. Journal of Clinical Pediatric Dentistry. 2002; 26(3):305-9. [DOI:10.17796/jcpd.26.3.l02834m2827m0132] [PMID]
8. Kjær I, Hansen N, Becktor KB, Birkebaek N, Balslev T. Craniofacial morphology, dentition, and skeletal maturity in four siblings with seckel syndrome. The Cleft Palate-Craniofacial Journal. 2001; 38(6):645-51. [DOI:10.1597/1545-1569_2001_038_0645_cmdasm_2.0.co_2] [DOI:10.1597/1545-1569_2001_038_0645_cmdasm_2.0.co_2]
9. Mokrani Benhelli H, Gaillard L, Biasutto P, Guen T, Touzot F, Vasquez N, et al. Primary microcephaly, impaired DNA replication and genomic instability caused by compound heterozygous ATR mutations. Human Mutation. 2013; 34(2):374-84. [DOI:10.1002/humu.22245] [PMID] [DOI:10.1002/humu.22245]
10. Majweski F, Goecke T. Studies of microcephalic primordial dwarfism I: Approach to a delineation of the seckle syndrome. American Journal of Medical Genetics. 1982; 12(1):7-21. [DOI:10.1002/ajmg.1320120103] [PMID] [DOI:10.1002/ajmg.1320120103]
11. Meinecke P, Passarge E. Microcephalic osteodysplastic primordial dwarfism type I/II in sibs. Journal of Medical Genetics. 1991; 28(11):795-800. [DOI:10.1136/jmg.28.11.795] [DOI:10.1136/jmg.28.11.795]
12. Melinda J, Pierce RP, Morse RP. The neurologic findings in Taybi- Linder syndrome (MOPD I/II): Case report and review of the literature. American Journal of Medical genetics. 2012; 158(3):606-10. [DOI:10.1002/ajmg.a.33958] [PMID] [DOI:10.1002/ajmg.a.33958]
13. Rauch A. The shortest of the short: Pericentrin mutations and beyond. Best Practice & Research Clinical Endocrinology & Metabolism. 2011; 25(1):125-30. [DOI:10.1016/j.beem.2010.10.015] [PMID] [DOI:10.1016/j.beem.2010.10.015]
14. Hall JG, Flora C, Scott CI, Pauli RM, Tanaka KI. Majweski osteodysplastic primordial dwarfism type II (MOPD II): Natural history and clinical findings. American Journal of Medical Genetics. 2004; 130(1):55-72. [DOI:10.1002/ajmg.a.30203] [PMID] [DOI:10.1002/ajmg.a.30203]
15. Luck D, Robertson F, Ganesan V. Screening for cerebrovascular disease in Microcephalic Osteodyspalstic Primordial Dwarfism type II (MOPD II): An evidence- based proposal. Pediatric Neurology. 2013; 48(4):294-8. [DOI:10.1016/j.pediatrneurol.2012.12.010] [PMID] [DOI:10.1016/j.pediatrneurol.2012.12.010]
16. Kent T, Yamaguchi Jr, Jennifer B, Salam MA, Karen S, Myung MD, et al. Spinal deformity in Russell-silver syndrome. Spinal Deformity. 2015; 3(1):95-7. [DOI:10.1016/j.jspd.2014.06.003] [PMID] [DOI:10.1016/j.jspd.2014.06.003]
17. Rao VB, Lily K, Seema K, Ghosh K, Dipika M. Paternal reciprocal translocation t(11;16)(p13;q24.3) in a Silver–Russel syndrome patient. Annales de Génétique. 2003; 46(4):475-8. [DOI:10.1016/S0003-3995(03)00028-5] [DOI:10.1016/S0003-3995(03)00028-5]
18. Clayton PE, Hanson D, Magee L, Murray PG, Saunders E, Abu Amero SN, et al. Exploring the spectrum of 3‐M syndrome, a primordial short stature disorder of disrupted ubiquitination. Clinical Endocrinology. 2012; 77(3):335-42. [DOI:10.1111/j.1365-2265.2012.04428.x] [DOI:10.1111/j.1365-2265.2012.04428.x]
19. Marsaud C, Rossingnol S, Tounian P, Netchine I, Dubern B. Prevalence and management of gastro intestinal manifestation in silver- Russell syndrome. Archives of Disease in Childhood. 2015; 100(4):353-8. [DOI:10.1136/archdischild-2013-305864] [PMID] [DOI:10.1136/archdischild-2013-305864]
20. Sonja A, De Munnik, Hoesloot E, Roukema J, Schoots J, Kneors N, et al. Meier- Gorlin syndrome. Orphanet Journal of Rare Diseases. 2015; 10:114. [DOI:10.1186/s13023-015-0322-x] [PMID] [PMCID] [DOI:10.1186/s13023-015-0322-x]
21. Shawky RM, Gamal R. Meier–Gorlin syndrome: An additional Egyptian patient with gastroesophageal reflux, hydronephrosis, renal stones and hypoplastic labia majora and minora with clitromegaly. Egyptian Journal of Medical Human Genetics. 2016; 17(4):397-400. [DOI:10.1016/j.ejmhg.2015.12.006]
22. Ranke MB, Lindberg A, Mullis PE, Geffner ME, Tanaka T, Cutfield WS, et al. Towards optimal treatment with growth hormone in short children and adolescents: Evidence and theses. Hormone Research in Pædiatrics. 2013; 79(2):51-67. [DOI:10.1159/000347121] [PMID] [DOI:10.1159/000347121]
23. Wakeling EL, Brioude F, Lokulo Sodipe O, O'connell SM, Salem J, Bliek J, et al. Diagnosis and management of Silver–Russell syndrome: First international consensus statement. Nature Reviews Endocrinology. 2017; 13(2):105. [DOI:10.1038/nrendo.2016.138] [PMID]
| بازنشر اطلاعات | |
 |
این مقاله تحت شرایط Creative Commons Attribution-NonCommercial 4.0 International License قابل بازنشر است. |
