Abstract— Osteogenesis Imperfecta is a genetic connective tissue disorder. It has clinically heterogeneous four types. Type 2 is the most severe and perinatally lethal form having small thorax, curved limbs and blue/gray sclerae. It is further subclassified into 3 types. A baby with sign and symptoms with macrocephaly, retrognathia, low set ears, widely placed eyes with white sclerae, complete cleft palate, narrow chest, curved and shortened limbs, B/L CTEV, left undescended testis with hypospadiasis was reported. This rare case was thoroghly examined and investigated which came out to a case of ‘Osteogenesis Imperfecta type 2 A’ having white sclerae. So case having such symptoms were should be investigated for Osteogenesis Imperfecta.
Keywords: Osteogenesis Imperfecta Type 2, White Sclerae, Genetic disorder, Perinatally lethal condition.
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