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Table 1 Clinical manifestations in patients with short stature

From: Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

Fm No. Pts No. Age at dx (yrs) Sex Ht at dx, cm (SDS) Wt at dx, kg (SDS) HC at dx, cm (SDS) MPH (cm) GA (wks) Birth Wt, kg (SDS) BA IGF-I, ng/mL (SDS) IGF
BP3, ng/mL (SDS)
Notes
1 K1 3.6 M 90.6 (− 2.07) 12.6 (− 1.90) 51.0 (0.59) 174.5 40 + 0 3.0 (− 1.26) D 121.2 (0.20) 3298 (0.71) Dysmorphic facial features, such as relatively macrocephaly, broad nasal bridge, deep philtrum, hypertelorism, strabismus, and low set ears, pectus excavatum, delayed teeth and closure (ossification) of fontanelle, GHD
2 K2 15.0 F 143.2 (− 3.06) 48.6 (− 0.43) 49.8 (− 3.90) 149.5 38 + 0 2.9 (− 0.32) A 545.1 (1.92) 6530 (0.94) Dysmorphic facial features such as hypertelorism, small mouth with dental anomalies, and low-set ears, short and broad digits/joint hyperlaxity, flexion contractures at the elbows, scoliosis, FLD, delayed language, and diabetes
3 K3 4.8 M 48 (− 2.87) 13 (− 3.33) 49.5 (− 0.99) 175.5 40 + 3 3.0 (− 1.26) D 118.5 (− 0.17) 3600 (0.69) Subtle dysmorphic facial features such as long face, speech delay, GHD, autistic spectrum disorder, and DD
4 K4 5.9 M 104.8 (− 3.43) 14.4 (− 4.91) 49.0 (− 1.83) 172.0 39 + 0 3.7 (0.73) D 88.6 (− 1.31) 2280 (− 0.09) Dysmorphic facial features such as hypertelorism, epicanthal fold, broad nose, anteverted nares, short philtrum, large mouth, thick/everted lips, and large ears, thoracolumbar spondylosis, pectus excavatum speech delay, ADHD, and ID
5 K5 12.0 M 133.5 (− 2.09) 36.7 (− 0.70) N/A 166.5 40 + 0 2.8 (− 1.73) D 66.6 (− 3.09) 514 (− 0.85) Subtle dysmorphic facial features such as microcephaly and small mandible
6 K6A 7.8 M 111.2 (− 2.85) 17.8 (− 2.89) 51.5 (− 0.54) 167.5 34 + 6 2.2 (− 0.13) D 166.0 (0.20) 3110 (0.23) Dysmorphic facial features such as asymmetric face, triangular face, upward slanting palpebral fissures, Rt cryptotia, webbed neck, campto- dactyly, Rt. congenital club foot, and GHD
  K6B 10.9 M 128.5 (− 2.04) 30 (− 1.05) NA   28 + 3 1.1 (0.10) D 176.4 (− 0.16) 2980 (− 0.08) Dysmorphic facial features such as triangular face, strabismus, inguinal and umbilical hernia, borderline ID
7 K7 19.0 M 142.7 (− 5.73) 33.1 (− 6.68) 46.0 (− 6.12) N/A 35 + 0 2.1 (− 0.93) D 110.4 (− 0.68) 5010 (0.56) Dysmorphic facial features such as microcephaly, prominent and narrow nose, and micrognathia, hearing impairment, FLD, corneal opacity, CKD, diabetes, GHD, ID
8 K8 1.6 M 71 (− 3.59) 7.6 (− 3.71) 43.0 (− 3.73) 170.5 39 + 0 2.6 (− 1.74) D 41.3 (− 0.25) 1930 (0.11) Dysmorphic facial features, such as synophrys, highly arched eyebrows, and short nose, hirsutism, cryptorchidism, nystagmus, ASD, shortening of splenium of corpus callosum, hearing defect, and DD
9 K9 1.0 F 70 (− 2.05) 8.0 (− 1.34) 46.0 (0.74) 158.5 40 + 0 2.9 (− 1.10) D 48.8 (− 0.29) 1930 (0.02) Dysmorphic facial features, such as relatively macrocephaly with frontal bossing, short arms and legs, and brachydactyly
10 K10 1.0 M 63.4 (− 4.27) 6.7 (− 3.31) 41.0 (− 4.26) N/A 26 + 2 0.9 (0.37) D N/A N/A Dysmorphic facial features, such as high forehead, plagiocephaly, hypertelorism, macrocephaly, prominent philtrum, low and posterior rotated ears, short neck, and low hairline, broad chest, pulmonary HTN, both hydroceles, ASD, DD
11 K11 9.3 F 119.7 (− 2.17) 26.1 (− 0.71) 48.5 (− 2.8) 162.0 39 + 0 3.5 (0.52) N 165.4 (− 0.17) 4210 (0.46) Speech and language delay, ADHD, epilepsy, and ID
12 K12 2.5 F 81.7 (− 2.30) 11.9 (− 0.85) 43.5 (− 3.00) NA 39 + 1 2.7 (− 1.19) D 133.1 (0.43) 3640 (3.3) Dysmorphic facial features such as synophrys, thin downturned upper lip, and long philtrum, strabismus, TOF, scoliosis, and DD
13 K13 2 M 72.3 (− 4.10) 8.8 (− 3.56) 44 (− 3.20) NA 37 + 1 2.46 (− 1.12) D 52.6 (− 0.35) 1570 (− 0.13) Dysmorphic facial features, such as low set ears, cleft palate, VSD, ectopic neurohypophysis at pituitary stalk, thinning of corpus callosum, and DD
14 K14 3 M 85.4 (− 2.80) 12.4 (− 1.40) 45 (− 2.60) NA 42 + 0 3.4 (− 1.26) N 87.13 (− 0.35) 2870 (2.2) Dysmorphic facial features, such as small chin, upward nostril, and low nasal bridge, rhizomelia, genu varum, and both slipped capital femoral epiphysis
15 K15 0.8 M 60.6 (− 4.15) 7.72 (− 1.05) 42 (− 2.10) NA 34 + 2 2.1 (− 0.38) D NA NA Dysmorphic facial features, such as coarse face, long philtrum, and inguinal hernia, hirsutism, bowing of the long bones, vertebral abnormalities, hearing defect, and DD
16 K16 9.2 F 100 (− 6.10) 15 (− 6.24) NA   33 + 3 2.2 (0.76) D 34.06 (− 2.25) 1260 (− 2.7) Dysmorphic facial features, such as hypotonic open-mouth appearance, triangular face, short philtrum, hypertelorism, bulbous nasal tip, PDA, kyphoscoliosis, and ID
  1. A advanced, ADHD attention-deficit hyperactivity disorder, ASD atrial septal defect, BA bone age, CKD chronic kidney disease, D delayed, DD developmental delay, dx diagnosis, FLD fatty liver disease, Fm family, GA gestational age, GHD growth hormone deficiency, HC head circumference, Ht height, HTN hypertension, ID intellectual disability, Lt left, MPH mid parental height, N normal, NA not available, No number, PDA patent ductus arteriosus, Pts patients, Rt right, SDS standard deviation score, TOF tetralogy of Fallot, VSD ventricular septal defect, wks weeks, Wt weight