PMC4387697_01
Clinical photograph showing absence of hair over scalp and eyebrows
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F1
Examination revealed absence of hair from the scalp, eyebrows and body with presence of hair over eyelashes [Figure 1].
Clinical photograph showing hypoplastic thumb
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F2
Other examination findings included a hypoplastic thumb on the right side with normal nails [Figure 2].
Dermoscopy of scalp showing hairs with monilethrix
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F3
This was consistent with monilethrix [Figure 3].
Echocardiography showing atrial septal defect
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F4
Echocardiography revealed a 6.9 mm atrial septal defect [Figure 4].