Diagnostic signs and their prevalence in 85 patients with Mulibrey nanism (46 females and 39 males) For the diagnosis, three major signs with one minor sign are required, or two major signs with three minor signs
| Signs | Frequency(%) |
|---|---|
| Major signs | |
| Growth failure (A or B or C) | |
| A) small for gestational age (SGA) lacking catch up growth | 95 |
| B) height in children 2.5 SDS below population mean for age | 94 |
| C) height in adults 3.0 SDS below population mean | 90 |
| Characteristic radiological findings (A or B) | |
| A) slender long bones with thick cortex and narrow medullar channels | 93 |
| B) low and shallow (J-shaped) sella turcica | 89 |
| Characteristic craniofacial features | 90 |
| Scaphocephaly, triangular face, high and broad forehead, low nasal bridge and telecanthus | |
| Characteristic ocular findings | |
| Yellowish dots in retinal mid peripheral region | 79 |
| Mulibrey nanism in a sibling | 17 |
| Minor signs | |
| Peculiar high pitched voice | 96 |
| Hepatomegaly | 70 |
| Cutaneous naevi flammei | 65 |
| Fibrous dysplasia of long bone | 25 |