Table 5

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

Major signs
    Growth failure (A or B or C)
        A) small for gestational age (SGA) lacking catch up growth95
        B) height in children 2.5 SDS below population mean for age94
        C) height in adults 3.0 SDS below population mean90
    Characteristic radiological findings (A or B)
        A) slender long bones with thick cortex and narrow medullar channels93
        B) low and shallow (J-shaped) sella turcica89
    Characteristic craniofacial features90
        Scaphocephaly, triangular face, high and broad forehead, low nasal bridge and telecanthus
    Characteristic ocular findings
        Yellowish dots in retinal mid peripheral region79
    Mulibrey nanism in a sibling17
Minor signs
    Peculiar high pitched voice96
    Cutaneous naevi flammei65
    Fibrous dysplasia of long bone25