PMC4496565_01
(A) Chest X-ray for patient 1, at 1 month of age, shows an elongated and narrowed rib cage with irregular rib ends (arrows). The rib cage was also narrow in an anteroposterior direction (not shown). (B) There are areas of sclerosis in the distal radius and ulna at 1 month of age (arrow).
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fig1
Patient 1 was a term male infant with global hypotonia, bell-shaped chest, and metaphyseal irregularities (Fig. 1) that led to an initial clinical diagnosis of Juene's syndrome.
PMC4496565_02
PMC4496565_03
Chest X-ray for patient 2, at 4 weeks of age, shows generalized osteopenia and numerous multilevel bony callus formations along several contiguous ribs bilaterally, suggesting healing fractures (arrows) involving ribs two to nine on the right and ribs two to seven on the left.
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fig3
Subsequently, a skeletal survey revealed diffusely osteopenic bones with coarse trabecular markings, diffuse symmetric periosteal reactions, and healing lateral right fourth to ninth and left seventh to ninth rib fractures (Fig. 3).
PMC4496565_04
(A) Longitudinal calcium (black circles) and phosphorus (open squares), (B) PTH (black circles) and alkaline phosphatase (open squares) values before and during cinacalcet treatment, and (C) corresponding cinacalcet dosing (mg/kg per day). The mg/kg per day dosing is approximate as dose changes were made more frequently than weight checks.
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fig4
She maintained a calcium level generally below 12 mg/dl but significant PTH and alkaline phosphatase elevations developed over the next 12 weeks (Fig. 4A and B).