Abstract— Thanatophoric dysplasia is the most common form of lethal skeletal dysplasia, diagnosed by its characteristic clinical and radiographic features. It has two types distinguished by radiological findings. Specific ocular features associated with Thanatophoric dysplasia have not known to be reported. A baby with clinical findings of a large head, short stature , low set ears, short and curved limbs, small thorax, bilateral corneal opacities and radiographs showing short and curved long bones, femurs like telephone- receiver look, H- shaped vertebrae, small iliac wings was reported. This rare case was thoroughly examined and investigated which came out to be a case of Thanatophoric Dysplasia Type I with corneal opacities. So when a case of Thanatophoric dysplasia Type 1 with bilateral corneal opacities was attended at pediatric department, a detailed report was prepared to publish such a rare case.
Keywords: Skeletal Dysplasia, Corneal Opacities.
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