Thanatophoric dysplasia: Antenatal to postmortem

Chavadi, Chanabasappa and Mahale, Nina and Jasthi, Goutham and Prabhu, Sonali D. and Kory, Swetha (2015) Thanatophoric dysplasia: Antenatal to postmortem. Journal of the Scientific Society, 42 (3). pp. 210-212.

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Abstract

Thanatophoric dwarfism (TD), literally meaning death seeking dwarf, is the most common form of lethal bone dysplasia characterized by severe micromelia, extra folds of skin and narrow chest. Other signs include small ribs, underdeveloped lungs, cloverleaf skull, hypertelorism and protuberant abdomen. A short neck, depressed nasal bridge and hypoplastic mandible may also be present. Hydrocephalus is uncommon but is another poor prognostic sign. The diagnosis is usually made with the ultrasonography in the second trimester. Based on the morphological characters, this condition is sub-divided into type 1 and type 2. Fetuses with this condition are either still-born or die shortly after birth. Antenatal sonographic, postpartum radiological and autopsy findings of a case of type 1 TD with a relatively uncommon association of hydrocephalus is discussed.

Item Type: Article
Uncontrolled Keywords: Autopsy, lethal, skeletal dysplasia, thanatophoric dysplasia, ultrasound
Subjects: Medicine > KMC Mangalore > Obstetrics & Gynaecology
Medicine > KMC Mangalore > Radio Diagnosis and Imaging
Depositing User: KMCMLR User
Date Deposited: 06 Oct 2015 12:00
Last Modified: 06 Oct 2015 12:00
URI: http://eprints.manipal.edu/id/eprint/144322

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