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.
Germ cell tumors of ovary with elements of two or more subtypes are relatively uncommon. Sarcoid-like granulomas are seen in rare association with dysgerminomas, a subgroup of germ cell tumors of ovary, which are again less common. Fine-needle aspiration cytology (FNAC) of the gonadal germ cell tumor, though not performed frequently, is of help when a gonadal mass does not require resection as in lymphoma which can be treated by chemotherapy. FNAC helps to diagnose this tumor and to rule out other lesions, including germ cell tumors. It is also an effective, rapid and reliable procedure for the diagnosis of germ cell tumors.
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