PMC9991468_01
Genogram illustrating the consanguinity.
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She also stated that her parents are second cousins (Figure 1).
Short fourth and fifth metacarpals.
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Her eye examination revealed bilateral cataracts; she was noticed to have bilateral short fourth and fifth metacarpals (Figure 2) and short fourth metatarsals (Figure 3).
Short fourth metatarsals.
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Her eye examination revealed bilateral cataracts; she was noticed to have bilateral short fourth and fifth metacarpals (Figure 2) and short fourth metatarsals (Figure 3).
X-ray of bilateral hands showing brachymetacarpia.
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Her hand and feet radiographs confirmed brachymetacarpia and brachymetatarsia (Figure 4 and 5), and her noncontrast CT scan of the brain showed basal ganglia calcifications (Figure 6).
X-ray of bilateral feet showing brachymetatarsia.
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Her hand and feet radiographs confirmed brachymetacarpia and brachymetatarsia (Figure 4 and 5), and her noncontrast CT scan of the brain showed basal ganglia calcifications (Figure 6).
NCCT brain showing basal ganglia calcifications.
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Her hand and feet radiographs confirmed brachymetacarpia and brachymetatarsia (Figure 4 and 5), and her noncontrast CT scan of the brain showed basal ganglia calcifications (Figure 6).