PMC5339492_01
Hand deformities.
CRIC2017-8197954.001.jpg
PMC5339492_01_CRIC2017-8197954.001.jpg
fig1
A 30-year-old male with a past medical history of early onset glaucoma, multiple trabeculectomies, delayed eruption of permanent dentition, progressive hand deformities (Figure 1), psoriasis, recurrent nephrolithiasis, Achilles tendinitis, tendon rupture, foot deformities (Figure 2), and hypoplastic toe nails presented for evaluation of dyspnea on exertion and palpitations.
Hallux valgus.
CRIC2017-8197954.002.jpg
PMC5339492_01_CRIC2017-8197954.002.jpg
fig2
A 30-year-old male with a past medical history of early onset glaucoma, multiple trabeculectomies, delayed eruption of permanent dentition, progressive hand deformities (Figure 1), psoriasis, recurrent nephrolithiasis, Achilles tendinitis, tendon rupture, foot deformities (Figure 2), and hypoplastic toe nails presented for evaluation of dyspnea on exertion and palpitations.
Dysplastic permanent teeth.
CRIC2017-8197954.003.jpg
PMC5339492_01_CRIC2017-8197954.003.jpg
fig3
Aortic stenosis with calcified leaflets.
CRIC2017-8197954.004.jpg
PMC5339492_01_CRIC2017-8197954.004.jpg
fig4
The patient underwent an echocardiogram which revealed moderate mitral annular calcification, mild aortic stenosis (Figure 4) with partial fusion of noncoronary and left coronary cusps, and calcified leaflets, with a peak gradient of 24.4 mm Hg and mean gradient of 13 mm Hg and peak velocity of 2.47 m/s.