TABLE III.
Summary of Physical Stigmata Reported in 54 Individuals With Non-Mosaic Down Syndrome (Positive Controls)
| Clinical finding | Proportion having traita |
% reporting data (response rate) |
|---|---|---|
| Celiac disease | 0/54 = 0 | 100% |
| Esophageal stricture | 0/54 = 0 | 100% |
| Umbilical hernia | 0/54 = 0 | 100% |
| Cyanotic CHDb | 1/54 = 0.019 | 100% |
| Hirschsprung’s disease | 1/54 = 0.019 | 100% |
| Imperforate anus | 1/53 = 0.019 | 98% |
| Leukemia | 1/53 = 0.019 | 98% |
| Duodenal stenosis/atresia | 3/54 = 0.056 | 100% |
| GI reflux | 3/54 = 0.056 | 100% |
| Congenital/acquired cataracts | 4/52 = 0.077 | 96% |
| Hearing loss | 4/49 = 0.082 | 91% |
| Atlanto-axial instability | 3/20 = 0.150 | 37% |
| Constipation | 10/54 = 0.185 | 100% |
| ADHD | 4/16 = 0.250 | 30% |
| Hypothyroidism | 13/43 = 0.302 | 80% |
| Nystagmus | 5/16 = 0.313 | 30% |
| Obesity | 19/53 = 0.358 | 98% |
| Obstructed lacrimal ducts | 9/25 = 0.360 | 46% |
| Strabismus | 9/23 = 0.391 | 43% |
| Frequent ear infections | 22/53 = 0.415 | 98% |
| Brushfield spots | 8/19 = 0.421 | 35% |
| PE tube placement(s) | 24/51 = 0.47 1 | 94% |
| Protruding tongue | 25/53 = 0.472 | 98% |
| Acyanotic CHDb | 27/54 = 0.500 | 100% |
| Presence of any CHDb | 28/54 = 0.519 | 100% |
| Flat face | 27/53 = 0.509 | 98% |
| Webbing, short, and/or broad neck | 27/52 = 0.519 | 96% |
| Myopia/hyperopia | 26/50 = 0.520 | 93% |
| Incurved 5th finger | 13/23 = 0.565 | 43% |
| Thin, and/or sparse hair | 31/52 = 0.596 | 96% |
| Dry skin | 36/54 = 0.667 | 10% |
| Single transverse palmar crease | 36/52 = 0.692 | 96% |
| Low set ears | 15/21 = 0714 | 39% |
| Flat nasal bridge | 19/26 = 0731 | 48% |
| Stubborn behavior | 19/26 = 0731 | 48% |
| Small ears | 18/24 = 0750 | 44% |
| Increased gap between 1st and 2nd toes | 15/20= 0750 | 37% |
| Short hands and fingers | 19/25 = 0760 | 46% |
| Malformed teeth | 18/23 = 0783 | 43% |
| Epicanthal folds | 43/51 = 0.843 | 44% |
| Up-slanted eyes | 45/53 = 0.849 | 48% |
| Hypotonia | 46/54 = 0.852 | 100% |
| Hyper-extensibility of joints | 46/53 = 0.868 | 98% |
| Narrow ear canals | 1/1 = 1 | 2% |
| Cleft uvula and palate | 1/1 = 1 | 2% |
| High arched palate | 3/3 = 1 | 6% |
| Brachycephaly | 4/4=1 | 7% |
a
Number of findings present/total number reported (present or absent).
b
Specific CHD findings are noted in Table IV.