TABLE I.
Summary of Clinical Manifestations in Ring Chromosome 15 Patients
| Clinical Features | Patient 1 | Patient 2 | Literature | Total | % |
|---|---|---|---|---|---|
| Cranio-Facial | |||||
| Microcephaly (<3rd centile) | + | + | 19/22 | 21/24 | 88 |
| Hypertelorism | + | − | 10/22 | 11/24 | 46 |
| Triangular facies | + | + | 8/22 | 10/24 | 42 |
| Broad nasal bridge | − | + | 9/25 | 10/27 | 37 |
| Frontal bossing | − | − | 8/20 | 8/22 | 36 |
| Anomalous ears | − | − | 8/25 | 8/27 | 30 |
| Micrognathism | + | − | 6/22 | 7/24 | 29 |
| High arched palate | + | + | 4/25 | 6/27 | 22 |
| Skin | |||||
| Café-au-lait spots | + | + | 5/21 | 7/23 | 30 |
| Achromic areas | − | − | 3/21 | 3/23 | 13 |
| Simian crease | − | − | 3/25 | 3/27 | 11 |
| Uro-Genital | |||||
| Cryptorchidism | + | n/a | 2/9 | 3/10 | 30 |
| Hypospadias | + | n/a | 1/9 | 2/10 | 20 |
| Renal malformations | − | − | 2/25 | 2/27 | 7 |
| Musculo-Skeletal | |||||
| Short Stature | + | + | 25/25 | 27/27 | 100 |
| Birth length (<46 cm) | + | + | 12/15 | 14/17 | 82 |
| Delayed bone age | + | + | 4/6 | 6/8 | 75 |
| Birth weight (<2.5 kg) | + | + | 17/24 | 19/26 | 73 |
| Brachydactyly | − | − | 12/25 | 12/27 | 44 |
| Fifth finger clinodactyly | + | + | 5/25 | 7/27 | 26 |
| Small hands | − | + | 6/24 | 6/26 | 23 |
| Talipes equinovarus | + | − | 3/25 | 4/27 | 15 |
| Second and third toe syndactyly | + | − | 2/25 | 3/27 | 11 |
| Scoliosis | − | − | 2/25 | 2/27 | 7 |
| Cardiovascular | |||||
| Cardiac abnormalities | − | − | 8/25 | 8/27 | 30 |
| CNS Function | |||||
| Mental retardation | + | + | 18/19 | 20/21 | 95 |
| Speech delay | + | + | 7/21 | 9/23 | 39 |
| Hypotonia | − | + | 6/25 | 7/27 | 26 |
n/a = not applicable.