TABLE 3.
Phenotypic, comorbidities, and global developmental features of our cohort compared to previous published work.
| Items | This study | Cerruti Mainardi et al., 2006 | Espirito Santo et al., 2016 | Honjo et al., 2018 | Chehimi et al., 2020 | Van Buggenhout et al., 2000 | Rodrigues de Medeiros, 2017 | Rodríguez-Caballero et al., 2012 | Total (factored) |
| N | N = 70 | N = 220 | N = 6 | N = 73 | N = 14 | N = 7 | N = 3 | N = 32 | 432 |
| Range of age | 0.1–45 years | 0.8–61 years | 6–38 years | 9.5–40 years | 2–38 years | 17–23 years | 2–35 years | 0.1–45 years | |
| Mean age | 8.80 years | 16.80 years | 13.80 years | 13.30 years | 19.66 years | 14.65 ± 10.19 years | 12.32 years | ||
| Developmental delay (HP:0001263) | 91.40 | 100.00 | 100.00 | 100.00 | 89.47 | 95.11 | |||
| Hypotonia (HP:0003808) | 70.00 | 72.20 | 100.00 | 100.00 | 87.50 | 99.38 | |||
| Micrognathia (HP:0000347) | 42.90 | 96.70 | 100.00 | 71.00 | 100.00 | 90.62 | 84.26 | ||
| Epicanthal folds (HP:0000286) | 47.10 | 90.20 | 83.30 | 85.71 | 100.00 | 93.75 | 81.67 | ||
| Large nose bridge (HP:0000446) | 62.90 | 87.20 | 100.00 | 57.00 | 71.42 | 100.00 | 93.75 | 81.78 | |
| Typical cry/acute voice (HP:0200046) | 55.70 | 95.90 | 100.00 | 94.40 | 93.00 | 33.33 | 93.75 | 88.25 | |
| Hypertelorism (HP:0000316) | 58.60 | 81.40 | 83.30 | 71.00 | 57.14 | 100.00 | 93.75 | 77.16 | |
| Aggressive and self- mutilation (HP:0000718) | 84.60 | 65.63 | 78.65 | ||||||
| Behavior anomalies (HP:0012433) | 71.40 | 68.75 | 70.57 | ||||||
| Round face (HP:0000311) | 45.70 | 83.50 | 100.00 | 29.00 | 100.00 | 25.00 | 68.62 | ||
| High arched palate (HP:0000218) | 10.00 | 83.80 | 100.00 | 64.00 | 16/29 (56.17) | 65.58 | |||
| Independent walking | 58.60 | 72.20 | 65.54 | ||||||
| Low-set ears (HP:0000369) | 54.30 | 69.80 | 33.30 | 14.28 | 100.00 | 78.12 | 65.20 | ||
| Microcephaly (HP:0000252) | 84.30 | 66.70 | 91.00 | 85.71 | 6.25 | 64.93 | |||
| Use Diapers | 44.30 | 84.00 | 64.56 | ||||||
| Difficult to feed (HP:0011968) | 40.00 | 60.00 | 80.30 | 71.87 | 62.55 | ||||
| Downturned corners of the mouth (HP:0002714) | 11.40 | 81.00 | 64.20 | ||||||
| Dental anomalies (HP:0000164) | 48.60 | 75.00 | 100.00 | 13/23 (56.52) | 58.30 | ||||
| Short philtrum (HP:0000322) | 14.30 | 60.50 | 86.00 | 96.87 | 55.40 | ||||
| Hyperlaxity (HP:0002761) | 44.30 | 78.12 | 54.91 | ||||||
| Downslanting palpebrals fissures (HP:0200005) | 20.00 | 56.90 | 83.30 | 48.71 | |||||
| Strabismus divergent/convergent (HP:0000486) | 45.70 | 47.50 | 100.00 | 42.86 | 17/31 (54.83) | 48.67 | |||
| Short neck (HP:0000470) | 18.60 | 56.20 | 33.30 | 100.00 | 47.38 | ||||
| Stereotypies (HP:0000733) (HP:0008762) | 44.30 | 40.30 | 42.25 | ||||||
| No words at all (HP:0001344) | 35.30 | 47.20 | 41.37 | ||||||
| Hyperactivity (HP:0000752) | 24.30 | 71.87 | 39.22 | ||||||
| Scoliosis (HP:0002944) | 35.70 | 33.30 | 28.80 | 42.60 | 38.41 | ||||
| Breath problems (HP:0002098) | 38.60 | 100.00 | 38.38 | ||||||
| Cardiac anomalies (HP:0115080) | 34.30 | 35.80 | 31.50 | 100.00 | 14/29 (48.27) | 36.23 | |||
| Gastro-intestinal anomalies (HP:0011024) | 55.70 | 21.40 | 65.62 | 33.25 | |||||
| Facial asymmetry (HP:0000324) | 12.90 | 57.14 | 68.75 | 31.28 | |||||
| Larynx and epiglottis alterations (HP:0001600) | 32.90 | 28.00 | 31.36 | ||||||
| Enlarged face (HP:0100729) | 32.90 | 13.79 | 26.90 | ||||||
| Alterations of the hands or feets (HP:0011297) (HP:0002813) | 44.30 | 83.30 | 19.50 | 26.66 | |||||
| Short understandable sentences | 28.50 | 18.10 | 22.74 | ||||||
| Single palmar crease (HP:0000954) | 17.10 | 100.00 | 20.51 | ||||||
| Autism (HP:0000717) | 12.90 | 25.80 | 19.95 | ||||||
| Genital anomalies (HP:0000078) | 22.90 | 8.20 | 15.40 | ||||||
| Hypertonia (HP:0001276) | 10.00 | 15.62 | 11.76 | ||||||
| Renal anomalies (HP:0004742) | 12.90 | 5.50 | 12.67 |
Data are expressed in percentages. All columns are weighed based on the number of total cases in each item. N, is number of patient evaluated.