case_images: PMC4855855_01
case_images: Facial appearance in our patient
case_images: 13039_2016_239_Fig1_HTML.jpg
case_images: PMC4855855_01_13039_2016_239_Fig1_HTML.jpg
case_images: Fig1
case_images: 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).
case_images: FISH for centromeric probe of chromosome 12 performed on buccal smear, showing 3 signals in 30 % of the analyzed cells
case_images: 13039_2016_239_Fig2_HTML.jpg
case_images: PMC4855855_01_13039_2016_239_Fig2_HTML.jpg
case_images: Fig2
case_images: The extra 12p signal was detected in 30 % of the analysed buccal smear cells, but not in the blood leukocyte culture (Fig. 2).
case_images: Growth curve representing prenatal and postnatal growth retardation
case_images: 13039_2016_239_Fig3_HTML.jpg
case_images: PMC4855855_01_13039_2016_239_Fig3_HTML.jpg
case_images: Fig3
case_images: At the age of 2.5 years the short stature became more evident - it was 3.5 SDS below the mean (Fig. 3).
case_images: MRI of the brain showing slightly enlarged ventricles and pituitary gland with no abnormalities
case_images: 13039_2016_239_Fig4_HTML.jpg
case_images: PMC4855855_01_13039_2016_239_Fig4_HTML.jpg
case_images: Fig4
case_images: MRI of the pituitary showed normal structure (Fig. 4).
case_images: Right-sided spike-and-wave focus in the fronto-temporo-parietal region, with a short generalized discharge on EEG
case_images: 13039_2016_239_Fig5_HTML.jpg
case_images: PMC4855855_01_13039_2016_239_Fig5_HTML.jpg
case_images: Fig5
case_images: The seizures were resistant to anticonvulsive therapy (Fig. 5).