Table 1 Clinical manifestation of affected systems and clinical management in the FA-Q patient
Affected System | Clinical manifestations | Management |
|---|---|---|
Growth | Low birthweight 2010 g; Short stature; Microcephaly | |
Skeletal abnormalities | Right thumb absent Left thumb hypoplastic Hip dislocation Tibia torsion | Pollicizations at age 3 and 4 Conservative Internal rotation osteotomy age 25 |
Gastrointestinal | Ectopic anus Fatty liver with persistently elevated liver enzymes | Monitoring |
Urogenital | Crossed kidney fusion ectopia, both kidneys on the right | Surveillance of kidney function only |
Haematological | Thrombocytopenia with macrocytosis Mild bone marrow hypoplasia without evidence of clonal chromosomal aberrations | Surveillance only |
Endocrine and reproductive health | Diabetes Type 1, age 42 No children Menopause age 29 | Low dose insulin (~0.2 U/kg/ day) Hormone replacement therapy since age 32 |
Skin | Café-au-lait spots Lifelong sun sensitivity with severe sunburn and blistering after minimal sun exposure | Meticulous sun avoidance and skin protection |
Hearing | Sensorineural hearing loss increasingly relevant age 45 | Hearing aid |
Brain | Cerebral and cerebellar atrophy Small pituitary gland Microangiopathic white matter signal changes |