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Osteogenesis imperfecta type II
Relevant markers:
Hypomineralization of skullBell shaped thoracic cageBroad irregular rib/sFracture/s of rib/sFractured femurFractured fibulaAngulated bonesBroad bonesWrinkled appearance (callus formation) of bonesSevere micromeliaFractured radiusFractured tibiaFracture/s bonesFractured ulnaHypokinesiaHypomineralizationHydropsParents markers:VentriculomegalyFaceIntrauterine growth retardation (IUGR/SGA/FGR)
Inheritance mode: Sporadic (new mutation), AD Login for more details.