Table 1.
Phenotypes reported for affected individuals
| Individual | Facial gestalta | Hand contractures | Clubfeet | Cardiac abnormalities | Adult height |
|---|---|---|---|---|---|
| I-1 | Yes | Yes | NA | NA | NA |
| I-2 | Yes | Yes | NA | NA | NA |
| I-3 | Yes | Yes | NA | NA | NA |
| I-4 | Yes | Yes | NA | NA | NA |
| II-1 | Yes | Yes | NA | NA | NA |
| II-2 | Yes | Yes | NA | NA | NA |
| II-3 | Yes | Yes | NA | SVT | NA |
| II-4 | Yes | Yes | NA | NA | NA |
| II-5 | Yes | Yes | NA | NA | NA |
| II-6 | Yes | Yes | NA | NA | NA |
| III-1 | Yes | Yes | NA | NA | NA |
| III-2 | Yes | Yes | NA | SVT | NA |
| III-4 | Yes | Yes | Yes | No | 5′8′′ |
| III-5 | Yes | Yes | No | VSD | 5′9′′ |
| III-6 | Yes | Yes | NA | NA | 5′8′′ |
| III-7 | Yes | Yes | NA | NA | 5′8′′ |
| III-8 | Yes | Yes | NA | NA | 5′8′′ |
| III-9 | Yes | Yes | NA | NA | 5′8′′ |
| IV-1 | Yes | Yes | Yes | Murmur | - |
NA, information not available; SVT, supraventricular tachycardia; VSD, ventricular septal defect.
aIncludes widow's peak, round face, ptosis, down-slanting palpebral fissures, hypertelorism, and anteverted nares. Specific features are not available for each individual except as noted in the text.