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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4196360 | PMC |
| http://dx.doi.org/10.4103/0974-2727.141513 | DOI Listing |
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