Keywords:Thanatophoric, Sporadic, Micromelia, Telephone receiver hand, Genetics
Thanatophoric Dwarfism (TD) literally meaning ‘death seeking dwarf’ in Greek, is the most common form of sporadic lethal skeletal dysplasia. This condition is both sporadic and autosomal dominantly inherited and is characterized by severe micromelia, short limbs, short ribs, narrow thorax, macrocephaly, coarse facial features, brachydactyly, hypotonia and X-ray features of ‘telephone receiver hand’ femur. TD has an estimated prevalence of 0.28 to 0.60 per 1000 births. In this study we report the clinical profile, radiological features and detailed genetic work up of the case with relevant review of literature. Currently, specific therapeutic regiments do not exist. Prenatal diagnosis is available by ultrasonography and molecular studies.
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