Clinical features:
(1) prenatal and postnatal short stature
(2) low birth weight
(3) abnormal skin pigmentation (hypopigmentation, cafe au lait macules, hyperpigmentation)
(4) microcephaly
(5) ophthalmic anomalies (microphthalmia, cataracts, astigmatism, strabismus, epicanthal folds, hypotelorism)
(6) anomalies of the genitourinary tract (renal, genital)
(7) hypoplastic radius, dysplastic ulna, hypoplastic thumb, congenital hip dislocation, other skeletal malformations
(8) endocrine problems (hypothyroidism, diabetes)
Less frequent findings:
(1) hearing loss
(2) congenital heart defects
(3) gastrointestinal defects
(4) CNS defects
(5) dysmorphic facial features (micrognathia, mid-face hypoplasia, other)
(6) developmental delay
Laboratory findings:
(1) macrocytosis
(2) increased fetal hemoglobin
(3) cytopenia (anemia, leukopenia, thrombocytopenia) secondary to progressive bone marrow failure
Complications:
(1) aplastic anemia
(2) myelodysplasia
