Table 1

Frequency of abnormalities in FA (taken from Dokal, 2000131)

AbnormalityFrequency (%)
Skeletal (radial ray, hip, vertebral scoliosis, rib)71
Skin pigmentation (café au lait, hyper- and hypopigmentation)64
Short stature63
Eyes (microphthalmia)38
Renal and urinary tract34
Male genital20
Mental retardation16
Gastrointestinal (eg, anorectal, duodenal atresia)14
Cardiac abnormalities13
Central nervous system (eg, hydrocephalus, septum pellucidum)8
No abnormalities30