دیسپلازی تاناتوفوریک در نوزادان دوقلو
Publish place: The Iranian Journal of Neonatology، Vol: 3، Issue: 1
Publish Year: 1391
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:
JR_IRJN-3-1_008
تاریخ نمایه سازی: 9 مهر 1398
Abstract:
Thanatophoricdysplasia (TD) isanosteochondrodysplasiaalwayslethalintheneonatalperiod. Thevastmajorityofcasesareduetodenovomutations. Itisdividedintotwotypes: ashortcurvedfemurcharacterizestype 1, whileastraighterfemurwithcloverleafskullcharacterizestype 2. Inthanatophoricdysplasiathelimbsareveryshort. Theribcageissmall. Thevertebralbodiesofthespinearegreatlyreducedinheightwithwidespacesbetweenthem. Autosomaldominantmutationsinthefibroblastgrowthfactorreceptor 3 gene (FGFR3), whichhasbeenmappedtochromosomeband 4p16.3, resultsinbothsubtypes. Thisconditionhascharacteristicsonographicfeaturesthatsuggestthediagnosisprenatally. Thanatophoricfetusesusuallydiewithinthefirst 48 hoursoflifefrompulmonaryhypoplasiacausedbyanarrowthorax, leadingtorespiratoryinsufficiency. Wereportedtwindizygotecasesoftype 1 TDwithsimilarfindingsadjustingwithTDforthefirsttime, alongwithashortreviewoftheavailableliterature.
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Authors
Shahin Mafinezhad
Department of pediatrics, Fellow of Neonatology, Mashhad University of Medical Sciences, Mashhad, Iran
Yasaman Bozorgnia
Department of dentistry, Resident of Orthodontics, Mashhad University of Medical Sciences, Mashhad, Iran
Reza Gharaee
Department of pediatrics, Fellow of Neonatology, Mashhad University of Medical Sciences, Mashhad, Iran