PMC5896320_01
Radiography of both hands, revealing brachydactyly of the fourth and fifth metacarpals.
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fig1
Physical examination showed a short stature, obesity (BMI 35 kg/m2), dental hypoplasia, round facies, and brachydactyly of the fourth and fifth metacarpals (Figure 1) and metatarsals.
Axial cuts of CT scan, revealing diffuse subcortical frontoparietal (a) and striatum capsularis and thalamus calcifications (b).
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fig2
The CT scan revealed diffuse subcortical frontoparietotemporal, striatum capsularis, and thalamus calcifications (Figure 2), without other changes.
PMC5896320_02
Genogram of the subject's family. Our subject is identified by the black arrow-head. y: year(s) old; PHP: pseudohypoparathyroidism; AHO: Albright's hereditary osteodystrophy.
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fig3
The genogram (Figure 3) suggests an autosomal dominant inheritance with maternal derived transmission.