Shprintzen-Goldberg syndrome
Keywords:
SYNDROME, CONGENITAL ABNORMALITIES, GENETIC DISEASES, INBORNAbstract
The Shprintzen-Goldberg syndrome is an extremely rare disorder of the connective tissue, characterized by Marfanoid bodily habitus, craniosynostosis with peculiar facies and skeletal alterations associated with intellectual disability. This study presents the case of a 14-year-old girl who was born with several malformations: Marfanoid bodily habitus, craniosynostosis, multiple skeletal alterations including arachnodactyly, absence of subcutaneous fat and peculiar facies. After several radiological tests compared in time and to other similar cases, considering the absence of cardiovascular conditions and with only one school delay, a malformative and dysmorphological sequence was considered that was finally defined clinically as the malformative Shprintzen-Goldberg syndrome.
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Yadav S, Rawal G. Shprintzen-Goldberg syndrome: a rare disorder. Pan Afr Med J [revista en internet]. 2016 [citado 1 de diciembre 2017]; 23: 227. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/277611 71.
Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, et al. The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. Eur J Hum Genet [revista en internet]. 2015 [citado 1 de diciembre 2017]; 23(2): 224-8. Disponible en: https://www.ncbi.nlm.nih.gov/ pubmed/24736733.
Au PY, Racher HE, Graham JM Jr, Kramer N, Lowry RB, Parboosingh JS, et al. De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review. Am J Med Genet A [revista en internet]. 2014 [citado 1 de diciembre 2017]; 164(3): 676-84. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/24357594.
Shah B, Sahu S, Kalakoti P, Yadav S, Syed MM, Bhattad VB, et al. Shprintzen-Goldberg syndrome presenting as umbilical hernia in an Indian child. Australas Med J [revista en internet]. 2014 [citado 1 de diciembre 2017]; 7(2): 51-7. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/24611072.
Jeong HJ, Lee JJ, Lee BD, Park JM, Lee YM, Moon E. Case of psychotic patient with suspected Shprintzen-Goldberg syndrome. Psychiatry Clin Neurosci [revista en internet]. 2014 [citado 1 de diciembre 2017]; 68(5): 388-9. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/24397373.
Al Kaissi A, Marrakchi Z, Nassib NM, Hofstaetter J, Grill F, Ganger R, et al. Craniosynostosis, Scheuermann's disease, and intellectual disability resembling Shprintzen-Goldberg syndrome: a report on a family over 4 generations: Case report. Medicine [revista en internet]. 2017 [citado 1 de diciembre 2017]; 96(12): e6199. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/28328806.
Saito T, Nakane T, Yagasaki H, Naito A, Sugita K. Shprintzen-Goldberg syndrome associated with first cervical vertebra defects. Pediatr Int [revista en internet]. 2017 [citado 1 de diciembre 2017]; 59(10): 1098-1100. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/28857439.
Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, et al. In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. Am J Hum Genet [revista en internet]. 2012 [citado 1 de diciembre 2017]; 91(5): 950-7. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/2310323 0.
Levy B, Tegay D, Papenhausen P, Tepperberg J, Nahum O, Tsuchida T, et al. Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy? Genet Med [revista en internet]. 2012 [citado 1 de diciembre 2017]; 14(9): 811-8. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/22653535.
Shanske AL, Goodrich JT, Ala-Kokko L, Baker S, Frederick B, Levy B. Germline mosacism in Shprintzen-Goldberg syndrome. Am J Med Genet A [revista en internet]. 2012, Jul [citado 1 de diciembre 2017]; 158A(7): 1574-8. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/22639450.
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