Table 1

Problems in infancy in 85 patients with Mulibrey nanism

FeatureFrequency (%)
Neonatal problems
    Respiratory problems31
        Ventilatory assistance needed20
        Cyanosis while crying15
    Feeding difficulties30
        Nasogastric feeding tube needed17
    Suspicion of hydrocephalus6
    Suspicion of sepsis6
    Cardiac arrhythmia1
Growth failure96
    Upper respiratory infections >4/year51
        Necessitating hospital care30
        Three or more pneumonias27
        Ventilatory assistance needed25
        Intubation needed14
    Middle ear infections >4/year38
Feeding difficulties50
    Difficulties in sucking31
    Nasogastric feeding tube needed31
    Delay in switching to solid foods24
    Fatigue during eating21
    Percutaneous gastrostomy needed6
Muscular hypotonicity46
Suspicion of hydrocephalus16
Congestive heart failure11
Resuscitation during first year of life11
    Due to infection9
    Due to aspiration1
    Due to arrhythmia1
Death during infancy5
    Due to infection2.5
    Due to congestive heart failure2.5