PMC4302468_01
(a) Frontal bossing with depressed nasal bridge, keratinized conjunctiva and cornea of both eyes (black arrows) (b and c) periocular skin tag (white arrow), and colobomas of right upper lid and left upper lid (white arrows)
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F1
A skin tag was present at the outer canthus of right eye [Figure 1b and c]. He had frontal bossing with depressed nasal bridge [Figure 1a] and also slight protrusion of tongue.
(a) Hyperpigmented patches involving right side of chest, abdomen and right arm (black arrows) (cutaneous hyperpigmentation has striking resemblance to incontinentia pigmenti) (b and c) alopecia and focal dermal hypoplasia with punched out appearance (white arrows)
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F2
There were focal patches of alopecia with dermal hypoplasia of scalp [Figure 2b and c]. Hyperpigmented patches were seen on the right side of the chest, abdomen and back with a slight extension onto the nape and right arm [Figure 2a].
(a) Aplastic cerebellar vermis with enlarged superior vermian cistern (black arrow), and subependymal grey matter heterotopia (white arrow) (b) polymicrogyric pattern in the right posterior parietal and right occipital cortex (white arrows) (c) small posterior fossa arachnoid cyst (black arrow)
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F3
There was subependymal grey matter heterotopia of the postero-inferior aspect of the atrium of right lateral ventricle [Figure 3a]. An axial cut shows to a greater detail the abnormal appearance of the cortex, with a polymicrogyric pattern posteriorly in right posterior parietal and right occipital region [Figure 3b]. A small arachnoid space posteriorly at the level of infratentorial compartment was seen, which is consistent with a diagnosis of arachnoid cyst [Figure 3c].