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A 5-year-old with mild intellectual disability has an unusually friendly, outgoing personality and is notably talkative. His verbal abilities are relatively stronger than his visuospatial skills, though both are below age expectations. He has a history of infantile hypercalcemia and supravalvular aortic stenosis.
- Deletion: 7q11.23 (~1.5 Mb)
- Includes ELN gene (elastin)
-
99% de novo
- Facies: periorbital fullness, stellate iris, wide mouth, full lips
- Cardiovascular: supravalvular aortic stenosis (SVAS), peripheral pulmonary stenosis
- Infantile hypercalcemia
- Intellectual disability with relative strength in language and facial recognition
- Hypersocial personality
- Connective tissue laxity (due to elastin deletion)
- Chromosomal microarray
- Cardiology surveillance for SVAS and arterial stenoses; serial echocardiography and blood pressure monitoring in all four limbs
- Caution with anesthesia given risk of sudden cardiac events with severe SVAS or coronary involvement
- Monitor serum and urine calcium; restrict vitamin D and excess calcium during infantile hypercalcemia
- Periodic blood pressure checks for renal artery stenosis and hypertension
- Endocrine surveillance (thyroid function, glucose tolerance, early puberty)
- Early intervention and educational support; behavioral support for anxiety and attention
"Serena and Venus Williams" 🎾
- Del of chromosome "SeVen" q11.23
- "SeRENA" = Stenosis of RENAL artery; also supravalvular aortic stenosis
- "VENUS" = VENOUS and arterial anomalies
- WilliAMS = "Arteries Might Stenose" (elastin arteriopathy)
- Rotate the "W" 90 degrees to get an "E" for Elastin
