PMC4899867_01
7- and 11-year-old sisters with mucopolysaccharidosis I, Hurler-Scheie and Scheie syndrome. Picture of hands and knees of both children, showing contracture of joints.
gr1.jpg
PMC4899867_01_gr1.jpg
fig1
Both sisters had large heads, short necks, depressed nasal bridges, large thick tongues, and joint contractures (Figs. 1A and 1B).
7- and 11-year-old sisters with mucopolysaccharidosis I, Hurler-Scheie and Scheie syndrome. Hand-wrist skiagram. Arrows show bullet-shaped phalanges with proximal pointing of the second to fifth metacarpals. A. Older sister. B. Younger sister.
gr2.jpg
PMC4899867_01_gr2.jpg
fig2
On radiological evaluation, hand-wrist radiographs revealed bullet-shaped phalanges with proximal pointing of the second to fifth metacarpals (Figs. 2A and 2B, in the older and younger one, respectively).
7- and 11-year-old sisters with mucopolysaccharidosis I, Hurler-Scheie and Scheie syndrome. Radiograph of spine and ribs showed anterior notching in thoraco-lumbar vertebral bodies with mild inferior beaking in L2 vertebra and oar-shaped ribs.
gr3.jpg
PMC4899867_01_gr3.jpg
fig3
Radiography of the spine and ribs showed anterior notching in the thoraco-lumbar vertebral bodies, with mild inferior beaking in the L2 vertebra and oar-shaped ribs (Fig. 3).
7- and 11-year-old sisters with mucopolysaccharidosis I, Hurler-Scheie and Scheie syndrome. Radiograph of pelvis showed narrow pelvis with flared iliac wings.
gr4.jpg
PMC4899867_01_gr4.jpg
fig4
Radiography of the pelvis revealed a narrow pelvis with flared iliac wings (Fig. 4).
7- and 11-year-old sisters with mucopolysaccharidosis I, Hurler-Scheie and Scheie syndrome. Ultrasonographic image showing splenomegaly.
gr5.jpg
PMC4899867_01_gr5.jpg
fig5
Ultrasonographic examination showed splenomegaly in the younger child (Fig. 5).
7- and 11-year-old sisters with mucopolysaccharidosis I, Hurler-Scheie and Scheie syndrome. Skull skiagram with arrow showing J-shaped sella.
gr6.jpg
PMC4899867_01_gr6.jpg
fig6
A skull skiagram showed J-shaped sella (Fig. 6).
7- and 11-year-old sisters with mucopolysaccharidosis I, Hurler-Scheie and Scheie syndrome. Echocardiography showed mitral valve thickening and mild mitral regurgitation in younger sister.
gr7.jpg
PMC4899867_01_gr7.jpg
fig7
Echocardiography showed mitral-valve thickening and mild mitral regurgitation as well (Fig. 7).