PMC9892606_01
History of consanguine marriage in the family
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FIG1
This female infant was the first live child born to healthy parents with a history of third-degree consanguinity (Figure 1) of marriage and without a significant history of congenital abnormalities in the family.
A two-day-old female neonate with lax skin, thin body stature, progeroid appearance, bilateral claw-like hands, and visible veins over her chest and abdomen
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FIG2
The appearance of the child is progeroid with frontal bossing, dysmorphic facies, micropthalmia with strabismus, and a long philtrum (Figure 2).
Corneal opacification
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FIG3
(a) Immobility of right lower limb; (b) visible veins over thorax and abdomen; (c) claw-like hand
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FIG4
The infant was brought to the hospital after one month with complaints of cold, cough, and immobility of the right lower limb (Figure 4a). The skin folds were also prominent, with visible veins over the thorax and abdomen (Figure 4b). Bilateral clawing of hands was noted (Figure 4c).