Table 1

Physical abnormalities in FA patients

Physical abnormalityPercent of FA patients
Skin discolorations (café au lait) 55 
Hand, arm, and other skeletal abnormalities, including thumb (missing thumb/radius) 51 
Abnormal reproductive organs (hypogenitalia, micropenis) 35 
Microcephaly or microophthalmia 26 
Kidney problems 21 
Low birth weight 11 
Heart defects 
Gastrointestinal problems (bowel) (atresia, imperforate anus) 
Physical abnormalityPercent of FA patients
Skin discolorations (café au lait) 55 
Hand, arm, and other skeletal abnormalities, including thumb (missing thumb/radius) 51 
Abnormal reproductive organs (hypogenitalia, micropenis) 35 
Microcephaly or microophthalmia 26 
Kidney problems 21 
Low birth weight 11 
Heart defects 
Gastrointestinal problems (bowel) (atresia, imperforate anus) 

Data from Alter.125 

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