Osteogenesis Imperfecta Type 2

Sahana Devadas, Rekha Takkalaki Devendrappa, Sarala Sabhapathy, Manu Malenahalli Ashok

Abstract

Background: Osteogenesis imperfecta (OI), the most common genetic cause of osteoporosis, is a generalized disorder of the connective tissue. OI type 2 may result in stillborns, or the neonates may die within the first year of their lives. The disorder includes the following signs: multiple intrauterine fractures of long bones, micromelia, bowing of the extremities to a frog leg position, multiple rib fractures, respiratory insufficiency, soft skull, enlarged anterior and posterior fontanelles, and dark blue–gray sclera.

Case Summary: A full-term female neonate, born through vaginal delivery to a primipara mother, had multiple bone fractures at birth. The mother gave a history of reduced perception of fetal movements during pregnancy, and it was a second-degree consanguineous marriage. At birth, the neonate had respiratory distress, wide anterior fontanelle fusing with posterior fontanelle, a soft and compressible skull, blue sclera, shortened limbs with frog leg position, and a deformed chest. An infantogram suggested fracture of the humerus, ulna, forearm, clavicle, rib, and tibia. An X-ray of the skull showed diffuse osteopenia with Wormian bones.

Conclusion: Prenatal level 2 ultrasonography screening should be done as early as 16 weeks of gestation as a primary method for assessing early fetal malformations.

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