Thanatophoric dysplasia Variant in Identical Saudi Twins; Prenatal Diagnosis and Genetic Analysis

Thanatophoric dysplasia is the most common neonatal lethal skeletal dysplasia with an estimated incidence of 1 in 20,000 live births. This condition shares some similarity of radiological findings with other types of lethal skeletal dysplasias. Definite diagnosis is necessary for accurate medical and genetic counseling. Prenatal sonographic and molecular genetic diagnoses in identical twin pregnancy of variant phenotypic appearance TD type I, is presented here