PMC10160663_01
Proband aged 13 years and 6 months. (A) profile (B) frontal (C) full-body.
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F1
Physical examination revealed ocular hypertelorism, thick eyebrows, a broad nose, anteverted nares, and a long philtrum (Figure 1) but no noticeable limb deformities.
PMC10160663_02
The location and size of the individual chromosome 11q13 deletions are shown for the reported cases with respect to our present case. The 34 OMIM genes deleted in these cases are represented with bands 11q13.2 and 11q13.4 shown on the top. OMIM, Online Mendelian Inheritance in Man.
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F2
Cranial magnetic resonance imaging (MRI) revealed Chiari I malformations, thinner corpus callosum, and enlarged supratentorial ventricles (Figure 2-4).
Brain MRI (sagittal position).
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F3
Cranial magnetic resonance imaging (MRI) revealed Chiari I malformations, thinner corpus callosum, and enlarged supratentorial ventricles (Figure 2-4).
Brain MRI (transverse position).
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F4
Cranial magnetic resonance imaging (MRI) revealed Chiari I malformations, thinner corpus callosum, and enlarged supratentorial ventricles (Figure 2-4).