PMC9537020_01
(a) Arrow indicates subluxation and proptosis of the right eye. (b) Arrow indicates deviated broad thumb.
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Proptosis of the eyes was evident and more severe on the right side (Figure 1(a)). The long bones appeared short, with proximal rhizomelia, while the thumbs and greater toes were wide and rotated (Figure 1(b)).
(a) Oropharyngeal airway to correct airway obstruction, long bones with proximal rhizomelia, and severe right eye proptosis. (b) Mid-facial hypoplasia, brachycephaly, cloverleaf skull, and bilateral ocular proptosis more severe on the right with absent eyelids (c) Broad thumb with medial deviation of the fingers.
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The orbits were shallow (Figure 2(b)) without the right upper and lower eyelids. There was profound right eyeball proptosis with severe hyperemic, chemotic conjunctiva, and an irregular cornea with a collapsed anterior chamber compared to the exorbitism of the left eye, which was displaced inferolaterally and displayed exposure keratopathy and lagopthalmus (Figure 2(a) and 2(b)).
(a) CT scan of the head showing marked cloverleaf deformity with lateral ventricle dilatation. (b) Three-dimensional craniofacial reconstruct computed tomography of the skull (AP and lateral) demonstrating early closure and overlapping of all the cranial sutures with cloverleaf deformation.
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Cranial ultrasound, CT scan, (Figure 3(a)) and magnetic resonance imaging of the brain revealed symmetrical lateral ventricular dilatation (anterior horns measured 16 mm in maximum transverse dimension) with no arterio-venous malformations and normal myelination of the white matter in both cerebral hemispheres. A three-dimensional craniofacial reconstruction computed tomography of the skull (Figure 3(b)) was performed and substantiated the cloverleaf deformity with multiple craniosynostoses resulting in acrocephaly and brachycephaly.