Thanatophoric Dysplasia in Newborn Twins:Case Report and Literature Review
Authors
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.
similar resources
Thanatophoric dysplasia.
Two autopsy cases of thanatophoric dysplasia in male newborn infant are described. They have markedly short-limbs and narrow thoraxes. Histologically, generalized disruption of endochondral ossification with normal resting cartilage was seen at the epiphyseal region of femur. Differential diagnosis from other 3 types of lethal chondrodysplasia is described and the histogenesis of thanatophoric ...
full textThanatophoric dysplasia. A report of three cases.
Thanatophoric dysplasia is an osteochondrodysplasia always lethal already in the neonatal period. Three cases, showing the characteristic X-ray picture of the disease, are described. Histopathologically, an abnormality in the endochondral ossification process was observed. In sections from tubular bones the growth zone was found to be irregular with deficient chondrocyte maturation, absence of ...
full textThanatophoric Dysplasia; a Rare Case Report on a Congenital Anomaly
The rare form of skeletal dysplasia is thanatophoric dysplasia. The meaning for thanatophoric dysplasia is death bearing which is derived from Greek word. It occurs 1in 20,000 to 50,000. It is mainly due to mutations in the fibroblast growth factor receptor 3gene. Features of thanatophoric dysplasia are frontal bossing, prominent eyes, narrow thorax, protruded abdomen and bowed legs. The knowle...
full textThanatophoric dysplasia in identical twins.
Female twins concordant for thanatophoric dysplasia are presented. Monozygosity was confirmed using minisatellite DNA genetic fingerprinting. The evidence supporting new dominant mutations as the likely cause of thanatophoric dysplasia is reviewed.
full textThanatophoric dysplasia: a rare entity.
Thanatophoric dysplasia is the lethal skeletal dysplasia characterized by marked underdevelopment of the skeleton and short-limb dwarfism. The child will be having a short neck, narrow thoracic cage and protuberant abdomen. Other anatomical features include a relatively enlarged head with frontal bossing, prominent eyes, hypertelorism and the depressed nasal bridge. The diagnosis is usually mad...
full textFocal cemento-osseous dysplasia: a case report and literature review
Objective and Case Report: In this report a female patient with the lesion diagnosed as focal semento-osseous dysplasia by histological and radiological examination on the left mandibular molar region is presented and these focal semento-osseous dysplasia lesions are reviewed according to the literature. Conclusion: Histological and radiographic examination is significant for the differential d...
full textMy Resources
Journal title
volume 3 issue 1
pages 36- 40
publication date 2012-05-01
By following a journal you will be notified via email when a new issue of this journal is published.
Keywords
Hosted on Doprax cloud platform doprax.com
copyright © 2015-2023