Table 3.
Physical exam findings
| Detected abnormality | Number of affected individuals (%) | |
|---|---|---|
| Male subjects | Female subjects | |
| Hypo-, oligo- or anodontia (for more details see Table 4) | 19 (100) | 5 (83) |
| Lack or absence of eyebrows | 19 (100) | 5 (83) |
| Dry skin | 19 (100) | 1 (17) |
| Hypo- or atrichia | 19 (100) | 0 (0) |
| Sparse eyelashes | 17 (89) | 0 (0) |
| Hypoplastic jaws | 16 (84) | 1 (17) |
| Dysplastic or protruding ear(s) | 16 (84) | 0 (0) |
| Frontal bossing | 16 (84) | 0 (0) |
| Eklabium | 12 (63) | 1 (17) |
| Eczematous skin | 10 (53) | 1 (17) |
| Supernumerary nipple and/or nipples of different size | 5 (26) | 0 (0) |
| Initially retarded psychomotor development (later normal status) | 4 (21) | 0 (0) |
| Growth retardation | 2 (11) | 2 (33) |
| Conjunctivitis, inflamed lid margins | 2 (11) | 0 (0) |