Thanatophoric Dysplasia Type I: A Rare Case Report at Fetal Autopsy

Thanatophoric dysplasia type 1 is a lethal congenital anomaly with skeletal dysplasia. It is characterized by short limb dwarfism, enlarged head with frontal bossing, short neck, protuberant abdomen. It is detected in early gestational period by ultrasonography. The other associated anatomical abnor...

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Detalles Bibliográficos
Autores principales: Davanageri, Reshma S, Shokeen, Parul D, Bannur, Hema B, Patil, Kamal P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4196360/
https://www.ncbi.nlm.nih.gov/pubmed/25328339
http://dx.doi.org/10.4103/0974-2727.141513
Descripción
Sumario:Thanatophoric dysplasia type 1 is a lethal congenital anomaly with skeletal dysplasia. It is characterized by short limb dwarfism, enlarged head with frontal bossing, short neck, protuberant abdomen. It is detected in early gestational period by ultrasonography. The other associated anatomical abnormalities and characteristic laboratory findings aid in the early diagnosis and further work-up.

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