Phenotypic features
| Patient | Eyes | Arms | Ears | Hearing | Kidneys | Feet | Heart | Other |
|---|---|---|---|---|---|---|---|---|
| AR, absent radius/radii; AT, absent thumb(s); Bil., bilateral; DA, Duane anomaly; EAM, external auditory meatus; HPL, hypoplasia; HPLT, hypoplasia of thumb(s); L, left; N, normal; NR, no abnormality reported; Nyst., nystagmus, Pos., position; R, right; Strab., strabismus; TOF, tetralogy of Fallot; VSD, ventricular septal defect. Structural eye defects in II.3 (family 3) are: cataract, iris and chorioideal coloboma, microphthalmia, and microcornea. | ||||||||
| Family 1 | ||||||||
| I.2 | N | Bil. triphalangeal thumbs | N | NR | NR | N | NR | NR |
| II.1 | N | AT+AR (L), HPLT (R) | Mildly dysplastic | N | N | Bil. talipes | TOF | Anal stenosis, sacrovertebral fusion |
| Family 2 | ||||||||
| I.1 | N | Bil. HPLT, bil. shortening of forearms | NR | NR | NR | NR | NR | NR |
| II.2 | N | Mesomelic shortening of forearms (L>R), AT+AR (L), HPLT (R), contractures of d II, IV, V (R) | N | N | Renal disease (not specified) | Bil. club foot syndactyly II/III and III/IV | NR | Short lower leg (L) |
| II.3 | N | Radial deviation of both hands | NR | NR | NR | NR | NR | NR |
| III.1 | N | Radial deviation of both hands | N | N | R pos. (L) | N | VSD | N |
| III.2 | N | Radial deviation of both hands, unilat. shortening of forearm | NR | NR | NR | NR | NR | NR |
| Family 3 | ||||||||
| I.1 | N | HPLT (L) | N | NR | NR | NR | NR | NR |
| II.3 | Struct. defects, strab., nyst. | HPLT (R), AT (L) | N | N | Crossed dystopia | N | N | |
| II.4 | N | Bil. AT, AR, AU, short humerus (L) | N | N | NR | NR | NR | |
| Family 4 | ||||||||
| II.1 | Bil. DA | Bil. AT+AR | Slit-like openings of EAM | N | N | N | N | Bil. epicanthic folds |
| Family 5 | ||||||||
| I.1 | Bil. DA | HPLT (L), AT (R), HPL of radius and ulna (R) | N | N | Fused pelvic | N | N | |
| II.1 | DA (L) | HPLT (R), AT (L), HPL of radius and ulna L>R | N | N | Low pos. R | N | VSD | |