Thanatophoric Dysplasia in Newborn Twins:Case Report and Literature Review

Mafinezhad, Shahin and Bozorgnia, Yasaman and Gharaee, Reza (2012) Thanatophoric Dysplasia in Newborn Twins:Case Report and Literature Review. Iranian Journal of Neonatology IJN, 3 (1). pp. 36-40.

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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.

Item Type: Article
Subjects: WS Pediatrics
Divisions: Journals > Iranian J Neonatology
Depositing User: ijn ijn
Date Deposited: 26 Sep 2017 13:40
Last Modified: 26 Sep 2017 13:40
URI: http://eprints.mums.ac.ir/id/eprint/4565

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