Lethal Osteochondrodysplasia–Thanatophoric Dysplasia–A Case Report

Dr.B.V.V.D.Kiranmayi; Dr.B.V.Rama Reddy; Dr.P.Satyanarayana Rao; Dr.P.Sreedevi

Volume : IV, Issue : I, January - 2015

Lethal Osteochondrodysplasia–Thanatophoric Dysplasia–A Case Report

Dr. B. V. V. D. Kiranmayi, Dr. B. V. Rama Reddy, Dr. P. Satyanarayana Rao, Dr. P. Sreedevi

Abstract :

Thanatophoric dysplasia is one of the most common forms of neonatal lethal skeletal dysplasias. It is diagnosed usually by routine ultrasound examination or TIFFA scan in the second trimester itself. Further molecular analysis also confirms the diagnosis and aids in the counseling in the prenatal period as well as for subsequent pregnancies.