PMC5502255_01
(A) Family tree. (B) Growth curve. At age 38 months, the patient's height was 84.5 cm (-2.89 SD) and growth hormone (GH) therapy was commenced. The patient's growth curve significantly improved with GH treatment over time. Height curve; red circles, weight curve; blue squares.
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F1
His older brother was healthy (Figure 1A). At 38 months of age his height was 84.5 cm (-2.89 SD) (Figure 1B). GH stimulation test led to the diagnosis of partial GHD (peak GH response to arginine was 4.60 ng/mL and to clonidine was 2.41 ng/mL; the cut-off point was <6 ng/mL to define partial GHD and <3 ng/mL to define severe GHD) (Table S1 in Supplementary Material). GH therapy (0.175 mg/kg/week) was introduced, and it significantly accelerated his growth velocity (Figure 1B).
(A) Clinical photographs. (B) Spinal radiograph showing generalized platyspondyly with irregular endplates and irregular ossifications in the posterior vertebral bodies. (C) Radiograph of the knees showing irregular and sclerotic splayed metaphyses of the distal femur, proximal tibia, and fibula. (D,E) Radiograph of the hip and wrist showing similar metaphyseal changes as the knee. (F) Brain CT showing bilateral calcification of the basal ganglia.
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F2
Facial features and body proportion were normal (Figure 2A). A radiograph of the knee showed mild metaphyseal dysplasia of the knee (shaved contour and marginal spur in the distal femoral metaphyses and to a lesser extent in the proximal tibial metaphyses, and mild cupping proximal fibular metaphyses) (Figure 2C). A subsequent skeletal survey revealed generalized metaphyseal dysplasia involving the hip and wrist as well as the knee (Figures 2D,E). The posterior vertebral bodies were irregularly ossified (Figure 2B). Brain CT of the patient showed bilateral calcifications of the basal ganglia (Figure 2F).