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 |