Phenotypic features in four Goldberg-Shprintzen syndrome patients
| Case 1 VI.1 | Case 2 V.4 | Case 3 V.6 | Case 4 V.9 | |
|---|---|---|---|---|
| HSCR | SS-HSCR | TCA | SS-HSCR | No HSCR |
| Mental retardation | + | ? | + | + |
| Hypotonia | + | ? | − | − |
| Microcephaly | + | + | + | + |
| Brain scan | Abnormal | ? | Abnormal | ? |
| Arched, dense eyebrows | + | ? | + | + |
| Curled eyelashes | + | ? | + | + |
| Synophrys | + | ? | + | + |
| Hypertelorism | + | ? | + | + |
| Corneal ulcer | − | ? | + | + |
| Megalocornea | ? | ? | + | + |
| Wide nasal bridge | + | + | + | + |
| Bulbous nasal tip | + | ? | + | + |
| Anteverted ears | + | + | + | + |
| Bifid uvula | − | ? | ? | + |
| Anteverted ears | + | + | + | + |
| Toes | Broad hallux | Overlapping | ||
| Skeletal abnormalities | − | ? | Scoliosis | − |
| Ataxia of the head | + | ? | − | − |
| Karyotype | 46,XX | 46,XY | 46,XX | 46,XY |
| DNA analysis | S305N | ? | − | S305N |
TCA = total colonic aganglionosis.
SS-HSCR = short segment Hirschsprung disease.
? = not evaluated/described.
+ = present.
− = absent.