PMC8012863_01
Hypertelorism, squint, protruded tongue, and scarf sign (hyper mobility of joints)
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F1
On examination, she had stable vitals, facial dysmorphism in the form of depressed nasal bridge, squint, and protruded tongue [Figure 1].
Floppy child with hypermobility of joint shown by heel to ear test
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F2
Neurological examination revealed generalized hypotonia with reduced muscle power, more in bilateral lower limbs [Figure 2].
Abnormally high hairline on the forehead
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F3
An abnormally high hairline on the forehead was observed [Figure 3].
Revealed multiple intraparechymal cysts in cerebellum with disorganized folia and diffusely abnormal white matter signal on T2-weighted images
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F4
Magnetic resonance imaging brain revealed multiple intraparenchymal cysts in the cerebellum with disorganized folia, and white matter showed diffusely abnormal hyperintensities on T2-weighted images [Figure 4].