PMC6444763_01
Child showing dysmorphic features (frontal bossing, prominent cheeks,
micrognathia, high nasal bridge, broad philtrum, and shorter fingers with
spoon-shaped nails giving drumstick appearance).
10.1177_1179547619837234-fig1.jpg
PMC6444763_01_10.1177_1179547619837234-fig1.jpg
fig1-1179547619837234
Child had a prominent forehead (Figure 1), large open fontanel, and proportionate short stature with height of 93 cm (-2.46 Standard Deviation(SD)), upper-lower segment ratio 1.26, and weight 12 kg (-2.45 SD).
X-ray of both hands with acro-osteolysis of the terminal phalanges with
increased bone density of all the bones.
10.1177_1179547619837234-fig2.jpg
PMC6444763_01_10.1177_1179547619837234-fig2.jpg
fig2-1179547619837234
Skeletal survey (Figures 2-4) shows large open fontanel, small bone island (Wormian bones), vertebrae were biconvex in the middle, and sclerotic structure of the bones in general.
X-ray of skull lateral views showing wide open fontanel.
10.1177_1179547619837234-fig3.jpg
PMC6444763_01_10.1177_1179547619837234-fig3.jpg
fig3-1179547619837234
Skeletal survey (Figures 2-4) shows large open fontanel, small bone island (Wormian bones), vertebrae were biconvex in the middle, and sclerotic structure of the bones in general.
X-ray of spine lateral view.
10.1177_1179547619837234-fig4.jpg
PMC6444763_01_10.1177_1179547619837234-fig4.jpg
fig4-1179547619837234
Skeletal survey (Figures 2-4) shows large open fontanel, small bone island (Wormian bones), vertebrae were biconvex in the middle, and sclerotic structure of the bones in general.