Evolving clinical spectrum in CATCH22: Observations on 20 patients

Chromosome 22qll deletion syndrome, CATCH22 (cardiac defect, anomaly faciès, thymic hypoplasia, cleft palate and hypocalcemia) is known to present a wide clinical spectrum. We report on subtle features of velo-pharyngeal insufficiency and hypoparathyroidism in 20 patients (14 boys and 6 girls, ages 1 - 15 years) of CATCH22. Abnormalities found in these patients included anomaly faciès in 20, cardiac defects in 16, recurrent aspiration pneumonia in 9, velo-pharyngeal insufficiency in 12, and hypocalcemia in 10. Of the 12 patients with velo-pharyngeal insufficiency, one had overt cleft palate that was diagnosed during neonatal period, and five had occult (submucous) cleft palate that was diagnosed during late infancy when assessment of speech became feasible. Of the 10 patients with hypocalcemia, four had overt hypoparathyroidism manifested by neonatal tetany or convulsion, and six had latent hypoparathyroidism with no clinical sign and symptom. These six patients developed overt hypocalcemia in infancy after prolonged fasting, and two of the six developed overt hypoparathyroidism in puberty. These observations indicate that the clinical definition of CATCH22 awaits a careful follow-up of similarly affected patients from early infancy to adulthood.