Table 1. Clinical features of the affected brothers with NHS.
| Patients | III-14 | III-15 | III-16 |
|---|---|---|---|
| Age (1st consultation) | 5 years | 4 years | 3 years |
| SD of CP (in cm) | −2.35 | −3 | −2 |
| Cataract | Bilateral total nuclear | Bilateral total nuclear | Bilateral total nuclear |
| MR | Severe | Severe | Moderate |
| PMD | Walked at 3 years | Walked and spoke at 3 years | Walked and spoke at 2 years. Could not stand up on one leg |
| FD | Elongated face, microphthalmia, oligodentia, thick gums | ||
| Bitemporal retraction | Hyperthelorism | Flat cheek | |
| Beaked nose | Deep narrow palate | ||
| Palpibral slots with anti-mongoloid obliquity | |||
| Very narrow palate | |||
| Triangular ears | |||
| Others | Clinodactyly of the 2nd finger | Heart surgery (installation of a valve) | — |
| Neonatal hypotonia | |||
Abbreviations: CP, cranial perimeter; SD, standard deviation; MR, mental retardation; PMD, psychomotor development; FD, facial dysmorphism; ‘—', none.