Growth charts developed through retrospective chart review on 188 male and female patients with 22q11.2 deletion syndrome (DiGeorge syndrome and velo-cardio-facial syndrome confirmed by molecular cytogenetics). Some had cardiac anomalies, but it has been shown that presence of heart defects does not affect stature in this population. Although adult values for weight, BMI, and head circimference were similar to the normal population, adult height was lower in this syndrome than in the normal population.
Tarquinio 2012 (Am J Med Genet A) | PubMed 22887711 | Author Search
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