Photograph of patient no. 1 illustrating the typical features of progressive deforming (type III) OI.

This 13-month-old girl has relative macrocephaly, triangular facies, and blue sclera (blocked by screen). Although not evident here, she also has malformed teeth, which is indicative of dentinogenesis imperfecta. Her extremities are shorter than normal, with mild curvature of the arms and marked angulation deformities of the lower legs. On roentgenograms (not shown), the bones appeared thin and osteopenic, with prominent curvatures not evident from physical examination. The humerus had an angulation of about 30°, and one of the lower legs was angulated approximately 100°. There was also evidence of old fractures. The thoracic cage was small, and the ribs were malformed. Published with parental consent.