Variable Antenatal Sonographic Findings of Thanatophoric Dysplasia- A Case Series TR01-TR03
Dr. Richa Verma,
A14, MMU Campus, Kumarhatti, Solan, Himachal Pradesh, India.
Thanatophoric dysplasia is a lethal osteochondral dysplasia which occurs sporadically in 1/64,000-100,000 total live births and it is very common of the congenital lethal skeletal dysplasias. It is diagnosed on antenatal ultrasound based of findings of cloverleaf skull, macrocephaly, hydrocephalus, narrow thorax, shortened limbs, thickened subcutaneous tissue of extremities, platyspondyly and polyhydramnios. Two subtypes have been recognised on the basis of presence of bowing of shortened femur and cloverleaf skull. Type I is more frequent than Type II. Autosomal dominant mutations in the fibroblast growth factor Receptor 3 gene result in both subtypes. This condition has characteristic sonographic features that suggest the diagnosis prenatally. It is lethal condition with most neonates being dead within the first few hours or days of life. At present no specific treatment regimen is available. This condition can be diagnosed by ultrasonography in mid gestation scan. So the radiologist should carefully scan the fetus for any features of this entity and proper patient counselling should be done regarding prognosis of fetus and future implications. The present authors report three cases depicting antenatal findings of Thanatophoric dysplasia which include both subtypes. One of the cases includes twin pregnancy with one fetus being normal and another showing sonographic feature of thanatophoric dysplasia.