Table 1.

Clinical Features of DNA Ligase IV Syndrome

Clinical manifestations	Feature present in current case?
Microcephaly	Yes - head circumference below 1st percentile
Short stature	Yes - final adult height 4 feet 7 inches
Pancytopenia	Yes - mild
Immunodeficiency	None clinically apparent
Hypogonadism	Yes - hypergonadotropic amenorrhea
Malignancy	Yes - cystic mucoepidermoid carcinoma of the parotid gland at age 28 and hepatocellular carcinoma at age 35
Neurodevelopment	Attended speech therapy; had Individualized Education Program in college
Bone/dental abnormalities	Yes - selective tooth agenesis; no syndactyly or polydactyly

Other diagnoses: asthma, type 2 diabetes, osteoporosis, hepatic steatosis