case_images: PMC5896320_01
case_images: Radiography of both hands, revealing brachydactyly of the fourth and fifth metacarpals.
case_images: CRIE2018-7813591.001.jpg
case_images: PMC5896320_01_CRIE2018-7813591.001.jpg
case_images: fig1
case_images: 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.
case_images: Axial cuts of CT scan, revealing diffuse subcortical frontoparietal (a) and striatum capsularis and thalamus calcifications (b).
case_images: CRIE2018-7813591.002.jpg
case_images: PMC5896320_01_CRIE2018-7813591.002.jpg
case_images: fig2
case_images: The CT scan revealed diffuse subcortical frontoparietotemporal, striatum capsularis, and thalamus calcifications (Figure 2), without other changes.
case_images: PMC5896320_02
case_images: 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.
case_images: CRIE2018-7813591.003.jpg
case_images: PMC5896320_02_CRIE2018-7813591.003.jpg
case_images: fig3
case_images: The genogram (Figure 3) suggests an autosomal dominant inheritance with maternal derived transmission.