Thanatophoric Dysplasia Type I with Bilateral corneal opacities: A Case Report

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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Medical Journal: Thanatophoric Dysplasia Type I with Bilateral corneal opacities: A Case Report

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