International Multispecialty Journal of Health (IMJH) ISSN: [2395-6291] [Vol-3, Issue-6, June- 2017] Page | 177 Thanatophoric Dysplasia Type I with Bilateral corneal opacities: A Case Report Dr. Rinku Saini 1 , Dr. R. N. Sehra 2 , Dr. Lovesh Saini 3§ , Dr. Priti Saini 4 1 Assistant Professor, Department of Pediatric Medicine, S.M.S Medical College, Jaipur(Rajasthan)India 2 Professor, Incharge NICU, Mahila Chikitsalaya, S.M.S Medical College, Jaipur(Rajasthan)India 3 Senior Demonstrator, Department of Preventive and Social Medicine, SMS Medical College, Jaipur(Rajasthan)India 4 Assistant Professor, Department of Pathology, SMS Medical College, Jaipur(Rajasthan) 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. I. INTRODUCTION Thanatophoricdysplasia(TD) is the most common lethal chondrodysplasia with a birth prevalence of 1 in 35000 births. 1 It is inherited in Autosomal Dominant manner and is due to heterozygous mutation of genes encoding FGFR 3 (Fibroblast growth factor receptor 3). 2 Two types of TD have been described. 3,4 The radiologic features in Type 1TD are shortness and bowing of the long bones, femurs curved like telephone-receiver, hypoplasia in pelvic bones, flattening in acetabular skeleton and hypoplasia in vertebral corpus. 5 In Type 2 TD, there is no shortening and bowing of long bones, femurs being straight and clover – leaf deformity of skull is significant. 6 Cases of TD Type I have been reported in the past 3,4,5,6 but none have mentioned any specific ocular finding . Here present a case of TD type 1 which had all the characteristic features 6 but differed in having bilateral corneal opacities. II. METHODOLOGY A rare case of Thanatophoric dysplasia Type 1 who was having all characteristic featers for its type but different in having bilateral corneal opacities was admitted in NICU, Mahila Chikitsalaya, SMS Medical College, Jaipur (Rajasthan) India. So case study was done thoroughly and case report was prepared to publish this rare case. III. CASE REPORT A Preterm (30-32 wks) appropriate for gestational age (AGA) male neonate having birth weight 1.3 kg was born vaginally to a 25 year old primigravida mother. There was no consanguinity, no family history of previous such babies. Mother had short stature but father was normal in height. Pregnancy was uneventful. Mother had regular antenatal checkups. Antenatal ultrasound examination done which