Thanatophoric Dysplasia in Newborn Twins:Case Report and Literature Review

Authors

  • Reza Gharaee Department of pediatrics, Fellow of Neonatology, Mashhad University of Medical Sciences, Mashhad, Iran
  • 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
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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Journal title

volume 3  issue 1

pages  36- 40

publication date 2012-05-01

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