PMC10040166_01
Radiographic findings in a 13-year-old boy with FEVR. (A) Anteroposterior views of the femora demonstrating thin, gracile bones. (B) Anterior view of the left humerus showing a widened medullary canal and thin cortices. (C) Anteroposterior view of the pelvis exhibiting coxa valga with a neck-shaft angle approximating 150 degrees.
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A radiographic skeletal survey revealed widened medullary canals with thin cortices typical of osteoporosis, gracile bones, and valgus proximal femoral neck-shaft angles (Figure 1).
DEXA Z-scores in a 13-year-old boy with FEVR. Bone mineral density (BMD) at initial presentation (leftmost circle with cross) showed a Z-score of -3.0 (1st percentile). A Z-score represents a patient's BMD as the number of standard deviations away from the mean compared to an age- and sex-matched cohort and is calculated using the raw BMD score obtained by the DEXA scan (y-axis). Lighter and darker blue areas on the graph represent up to two standard deviations above average BMD for age/sex (Z-scores of 0 to 2 or 50th to 95th percentile) and up to two standard deviations below average BMD for age/sex (Z-scores of -2 to 0 or 5th to 50th percentile), respectively. Two years after initial presentation, this patient had kept pace with the expected bone density increase rate for his age (rightmost circle with cross) but was still osteoporotic with a Z-score of -2.6 (1st percentile).
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DEXA scans demonstrate progressive slow increase of bone density for their ages, though they remain below normal range (Figure 2).
PMC10040166_02
DEXA Z-scores in a 13-year-old boy with FEVR. Bone mineral density (BMD) at initial presentation (leftmost circle with cross) showed a Z-score of -3.0 (1st percentile). A Z-score represents a patient's BMD as the number of standard deviations away from the mean compared to an age- and sex-matched cohort and is calculated using the raw BMD score obtained by the DEXA scan (y-axis). Lighter and darker blue areas on the graph represent up to two standard deviations above average BMD for age/sex (Z-scores of 0 to 2 or 50th to 95th percentile) and up to two standard deviations below average BMD for age/sex (Z-scores of -2 to 0 or 5th to 50th percentile), respectively. Two years after initial presentation, this patient had kept pace with the expected bone density increase rate for his age (rightmost circle with cross) but was still osteoporotic with a Z-score of -2.6 (1st percentile).
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DEXA scans demonstrate progressive slow increase of bone density for their ages, though they remain below normal range (Figure 2).
Radiographic findings in a 10-year-old girl with FEVR. (A) Anteroposterior view of the left humerus exhibiting gracile bones and thin cortices. (B) Anteroposterior film of the right forearm showing gracile bones. (C) Anteroposterior view of tibias revealing endosteal reabsorption with widened medullary canals and thin cortices characteristic of osteoporosis.
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A radiographic skeletal survey revealed gracile bones and widened medullary canals and thin cortices typical of osteoporosis (Figure 3).
Panorex film of a 10-year-old girl with FEVR. Impaired dentinogenesis is manifested by the absence of the maxillary right and left lateral incisors, maxillary right and left 2nd pre-molars, and right mandibular 1st pre-molar.
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A dental Panorex film demonstrated impaired dentinogenesis of 5 adult teeth (Figure 4).
Mid-phase fluorescein angiography of the retina of a 13-year-old boy with FEVR. Capillary dropout, defined as areas of hypofluorescence and indicating reduced perfusion (open arrow), and a retinal hole (solid arrow) can be seen.
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FEVR (Figure 5). Fluorescein angiography also revealed a temporal retinal capillary dropout in the younger sibling's left eye, and she was diagnosed with FEVR as well. 
Fundus photographs exhibiting the temporal area of the right eye of a 13-year-old boy with FEVR before and after laser retinopexy treatment. (A) Atrophic hole in temporal periphery before treatment (green arrow). (B) Atrophic hole in temporal periphery after treatment (green arrow) surrounded by 360  laser scar extended to area of capillary dropout to prevent neovascularization or further atrophic hole in that area.
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The older sibling was treated with a laser retinopexy in the right eye as prophylaxis for retinal detachment (Figure 6).