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
Hearing11
Central nervous system (eg, hydrocephalus, septum pellucidum)8
No abnormalities30