Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings

We present a case in which the unusual cerebral malformations of thanatophoric dysplasia (TD) were identified on a 21-week fetal US and confirmed by antenatal MRI, postmortem imaging and autopsy. TD is the most common lethal skeletal dysplasia and is characterized by short long bones, which are ofte...

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Bibliographic Details
Published inPediatric radiology Vol. 40; no. Suppl 1; pp. 134 - 137
Main Authors Fink, A. Michelle, Hingston, Tania, Sampson, Amanda, Ng, Jessica, Palma-Dias, Ricardo
Format Journal Article
LanguageEnglish
Published Berlin/Heidelberg Springer-Verlag 01.12.2010
Springer Nature B.V
Subjects
Brain - abnormalities
Brain - pathology
Case Report
Echoencephalography
Humans
Imaging
Magnetic Resonance Imaging
Medicine
Medicine & Public Health
Neuroradiology
Nuclear Medicine
Oncology
Pediatrics
Pregnancy
Radiology
Thanatophoric Dysplasia - diagnosis
Ultrasonography, Prenatal
Ultrasound
Brain malformation
Fetal MRI
Fetal US
Thanatophoric dysplasia
Postmortem
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Summary:We present a case in which the unusual cerebral malformations of thanatophoric dysplasia (TD) were identified on a 21-week fetal US and confirmed by antenatal MRI, postmortem imaging and autopsy. TD is the most common lethal skeletal dysplasia and is characterized by short long bones, which are often bowed (type 1), a small thorax, and skull deformities. There is also a recognised constellation of abnormalities of the brain primarily affecting the temporal lobes that, although well described in the postmortem setting, are not widely recognized in fetal imaging. Familiarity with this appearance will facilitate accurate antenatal diagnosis.
Bibliography:ObjectType-Case Study-2
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ISSN:0301-0449
1432-1998
DOI:10.1007/s00247-010-1697-4