case_images: PMC5640965_01
case_images: Growth chart of patient (National Center of Health Statistics 1976-1980). B1 = Tanner breast 1. GH Rx = Growth Hormone treatment
case_images: 13633_2017_52_Fig1_HTML.jpg
case_images: PMC5640965_01_13633_2017_52_Fig1_HTML.jpg
case_images: Fig1
case_images: In weight, she grew for years along the 10th percentile line (Fig. 1). SD) to the 25th percentile (-0.67 SD) and she had an adult height of 160 cm, the same as the mother (Fig. 1). Serum GH levels after stimulation tests, when she was 26 years and 7 months old were normal, 9.4 ng/ml (normal >5 ng/ml), indicating normal GH secretion. 
case_images: a Radiograph of the left hand for bone age: The distal phalanx of each digit is small and narrow. Shortening of the middle phalanx of digits 2 and 5. Slender metacarpals 4 and 5 and short 5th metacarpal. The margins of the carpal bones are more angular than smooth. b Lateral radiograph of the Left Knee: The patellar height ratio, measured length of the patellar tendon divided by length of the patella is 1.7, normal is 1.5. Typically increased PHR is associated with increased risk of patella dislocation. c AP standing pelvis radiograph: Pelvic tilt demonstrating a leg length discrepancy. The iliac bones are narrow. Bilateral Coxa Valga is present. Acetabular coverage is good. Dysplasia of the femoral epiphysis (flat and small)
case_images: 13633_2017_52_Fig2_HTML.jpg
case_images: PMC5640965_01_13633_2017_52_Fig2_HTML.jpg
case_images: Fig2
case_images: Other radiographical changes have been: dysplasia of the femoral heads, with no dislocation; abnormalities of the left hand with thin 4th and 5th metacarpals; short 5th metacarpal; short middle phalanges of the 2nd and 5th digits; unequal leg length (2.5 cm); and the margins of the carpal bones more angular than smooth (Fig. 2). 
case_images: Validation of NGS sequencing by Sanger Sequencing: Sequence chromatograms show the compound heterozygous mutation detected in the patient in the DCHS1 gene in exon 19 (left) and exon 2 (right). The patient's mother and father were also re-sequenced to verify transmission of one mutation from each parent. DCHS1: RefSeq NM_003737.3
case_images: 13633_2017_52_Fig3_HTML.jpg
case_images: PMC5640965_01_13633_2017_52_Fig3_HTML.jpg
case_images: Fig3
case_images: Each parent was confirmed to be a heterozgyous carrier of one of the mutations (Fig. 3).