Table 1. Clinical symptoms in the siblings of the HHS-affected family.
Symptoms\Siblings | S1 | S2 | S3 | S4 | S5 |
Skin pigmentation | − | +1 | − | − | − |
Nail dystrophy | − | + | + | + | + |
Leukoplakia | − | + | + | + | + |
Bone marrow failure | − | + | + | + | + |
T+ B− NK− immunodeficiency | − | + | + | + | + |
Intrauterine growth retardation | − | + | + | + | − |
Growth retardation | − | − | + | + | + |
Microcephaly | − | + | + | + | + |
Cerebellar hypoplasia/dysfunction | − | + | + | +2 | +2 |
Pancytopenia | − | + | + | + | + |
Infections | − | + | + | + | + |
Esophageal atresia | − | + | +3 | +3 | +3 |
Mild pigmentation was observed.
Cerebellar hypoplasia was confirmed by imaging.
History of major difficulties in swallowing solid food; not confirmed by imaging.