PMC4855855_01
Facial appearance in our patient
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Fig1
Facial dysmorphic features were present, including: a coarse face, a prominent forehead, bitemporally sparse hair, narrow and upslanted palpebral fissures, hypertelorism, a short and upturned nose with anteverted nares, full cheeks, a long philtrum and protruding lips (Fig. 1).
FISH for centromeric probe of chromosome 12 performed on buccal smear, showing 3 signals in 30 % of the analyzed cells
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Fig2
The extra 12p signal was detected in 30 % of the analysed buccal smear cells, but not in the blood leukocyte culture (Fig. 2).
Growth curve representing prenatal and postnatal growth retardation
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Fig3
At the age of 2.5 years the short stature became more evident - it was 3.5 SDS below the mean (Fig. 3).
MRI of the brain showing slightly enlarged ventricles and pituitary gland with no abnormalities
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Fig4
MRI of the pituitary showed normal structure (Fig. 4).
Right-sided spike-and-wave focus in the fronto-temporo-parietal region, with a short generalized discharge on EEG
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Fig5
The seizures were resistant to anticonvulsive therapy (Fig. 5).