Table I.
Clinical presentations associated with RES
|
total N |
male |
female |
GLH features | VACTERL features | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| alopeci a |
trigeminal anesthesia |
vertebra l |
rib | cardiac | GU/G I |
limb | renal | ||||
|
RES w/o alopecia or VACTERL features† |
28 | 16 | 12 | — | — | — | — | — | — | — | — |
| RES with alopecia | 44 | 27 | 17 | 44 | — | — | — | — | — | — | — |
|
RES with alopecia and trigeminal anesthesia‡ |
14 | 8 | 6 | 14 | 14 | — | — | — | — | — | — |
|
RES with VACTERL features§ +/− alopecia |
25 | 15 | 10 | 11 | 4 | 11 | 9 | 16 | 4 | 7 | 7 |
|
RES + HPE + VACTERL +/− alopecia |
2 | 1 | 1 | 1 | — | 1 | 1 | 1 | — | 1 | — |
|
unk (not enough info to diagnose) |
2 | — | 2 | — | — | — | — | — | — | — | — |
| Total N | 115 | 67 | 48 | 70 | 18 | 12 | 10 | 17 | 4 | 8 | 7 |
| Percentage | 58% | 42% | 61% | 16% | 10% | 9% | 15% | 3% | 7% | 6% | |
Legend:
†
2 males have craniofacial microsomia;
‡
1 female has craniofacial microsomia;
§
each individual may have more than one feature;
GLH, Gomez-Lopez-Hernandez syndrome; HPE, holoprosencephaly; RES, rhombencephalosynapsis; VACTERL, vertebral defects, anal atresia, cardiac defects, trachea-esophageal fistula, renal anomalies, and limb abnormalities.