PMC9885422_01
Short stature, height 105 cm (< -2 SD) at 7 years age.
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SD) (Fig. 1), with a mid-parental height of 156.5 cm (between 0 and -2SD) and weight of 15.02 kg (-2 SD to -3 SD). She was found to mild hypotonia leading to waddling gait.
Protuberant eyes with megalocornea and bluish sclera.
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Megalocornea with a horizontal corneal diameter of 13 mm and vertical corneal diameter of 12.5 mm (normal horizontal corneal diameter range is 11.5-12 mm and vertical corneal diameter range is 10.5-11 mm) and blue sclerae (Fig. 2) were noticed at birth, however the neonatal period was uneventful.
Finely wrinkled palms.
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The physical examination at the time was also significant for hypermobile joints (Fig. 4) (Beighton score:8), hyperextensible skin (skin could be stretched to 2.8 cm on volar surface of forearm and to 1.5 cm on volar surface of palm), finely wrinkled palms (Fig. 3) and pes planus.
Hyperextensible joint.
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The physical examination at the time was also significant for hypermobile joints (Fig. 4) (Beighton score:8), hyperextensible skin (skin could be stretched to 2.8 cm on volar surface of forearm and to 1.5 cm on volar surface of palm), finely wrinkled palms (Fig. 3) and pes planus.
Cervical spine with platyspondyly.
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Our patient fulfils two major criteria (short stature and muscle hypotonia), three minor criteria (skin changes, pes planus and delayed motor development) for the diagnosis of spEDS and all minor criteria for SLC39A13 gene i.e. protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers, hypermobility of distal joints and characteristic radiologic findings (Figs. 5, 6, 7).
X-ray pelvis with small ilia.
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Our patient fulfils two major criteria (short stature and muscle hypotonia), three minor criteria (skin changes, pes planus and delayed motor development) for the diagnosis of spEDS and all minor criteria for SLC39A13 gene i.e. protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers, hypermobility of distal joints and characteristic radiologic findings (Figs. 5, 6, 7).
MRI imaging of the child showing metachromatic leukodystrophy.
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The findings of neuroimaging done at 7 years of age were similar to MRI done at 10 months of age with no progression of white matter changes (Fig. 7). Our patient fulfils two major criteria (short stature and muscle hypotonia), three minor criteria (skin changes, pes planus and delayed motor development) for the diagnosis of spEDS and all minor criteria for SLC39A13 gene i.e. protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers, hypermobility of distal joints and characteristic radiologic findings (Figs. 5, 6, 7).