Thanatophoric Dysplasia in Newborn Twins:Case Report and Literature Review
نویسندگان
1 Department of pediatrics, Fellow of Neonatology, Mashhad University of Medical Sciences, Mashhad, Iran
2 Department of dentistry, Resident of Orthodontics, Mashhad University of Medical Sciences, Mashhad, Iran
3 Department of pediatrics, Fellow of Neonatology, Mashhad University of Medical Sciences, Mashhad, Iran
doi
10.22038/ijn.2012.281چکیده
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.
