case_images: PMC5705563_01
case_images: Pedigree of the family. Solid symbol, affected individual; circles, females; squares, males.
case_images: fped-05-00251-g001.jpg
case_images: PMC5705563_01_fped-05-00251-g001.jpg
case_images: F1
case_images: The 14-year-old boy is the first child of healthy parents (Figure 1).
case_images: Growth and weight charts of the patient. These charts are gender specific and refer to boys. x-axis, age (years); y-axis, height (centimeter, upper part of the figure) and weight (kilograms, lower part of the figure).
case_images: fped-05-00251-g002.jpg
case_images: PMC5705563_01_fped-05-00251-g002.jpg
case_images: F2
case_images: Body height was on the third percentile during infancy and early childhood (Figure 2) and a global developmental delay (including motor and speech delay) was diagnosed on regular pediatric screening examinations.
case_images: Ultrasound of the right kidney with a length of 6.2 cm (<1st percentile).
case_images: fped-05-00251-g003.jpg
case_images: PMC5705563_01_fped-05-00251-g003.jpg
case_images: F3
case_images: By the age of six, the right kidney had a length of 6.2 cm (<1st percentile, see Figure 3), the left kidney had a length of 5.8 cm (<1st percentile, see Figure 4).
case_images: Ultrasound of the left kidney with a length of 5.8 cm (<1st percentile).
case_images: fped-05-00251-g004.jpg
case_images: PMC5705563_01_fped-05-00251-g004.jpg
case_images: F4
case_images: By the age of six, the right kidney had a length of 6.2 cm (<1st percentile, see Figure 3), the left kidney had a length of 5.8 cm (<1st percentile, see Figure 4).
case_images: X-ray (detail of a babygram) of the patient at the age of 7 months showing a hook-shaped hypoplastic left clavicle.
case_images: fped-05-00251-g005.jpg
case_images: PMC5705563_01_fped-05-00251-g005.jpg
case_images: F5
case_images: Thoracic X-ray revealed hypoplastic clavicles (Figure 5, only left clavicle visible).
case_images: Partial nucleotide sequence of exon 3 of PBX1 of the patient and his parents showing the heterozygous de novo variant c.413_419delGGGCAGG, p.Gly138Valfs*40. Shown reference sequence: TTCTGGAGGGGCAGG. Genomic position of the variant: chr1:164761876-164761882 (hg19, transcript NM_002585.3).
case_images: fped-05-00251-g006.jpg
case_images: PMC5705563_01_fped-05-00251-g006.jpg
case_images: F6
case_images: The variant could not be detected in the blood DNA of both parents (Figure 6).