TABLE II.
Clinical Features
| Features of “partial trisomy 11q syndrome” | Patient 1 | Patient 2 |
|---|---|---|
| Mental retardation | + | ? |
| Motor retardation | + | ? |
| IUGR | − | − |
| Postnatal growth deficiency | − | − |
| Hypotonia | + | + |
| Microcephaly | − | − |
| Retro/micrognathia | +a | + |
| Craniofacial asymmetry | − | − |
| Abnormal ears | − | + |
| Short nose | + | + |
| Prominent upper lip | + | − |
| Retracted lower lip | − | − |
| Cleft palate/high arched palate/bifid uvula | + | + |
| Glossoptosis | + | − |
| Cardiac abnormality | − | + |
| CDH | − | + |
| Renal abnormality | − | + |
| Small/hypoplastic nails | − | + |
| Dislocated hip joints | − | ? |
| Clavicle defect | − | − |
| Cutis laxa | − | + |
| Short/broad neck | − | + |
| Other abnormalities | − | − |
IUGR, intra-uterine growth retardation, CDH, congenital diaphragmatic hernia; +, present, −, not present; ?, no data available.
a
Micrognathia more pronounced at birth. No longer obvious as the age of 2 8/12 years.