Describes the experiences at two medical centers of incorporating electronic growth charts into the medical records on infants with rare disorders, using PWS as an illustration.
Rosenbloom 2012 (Am J Med Genet A) | PubMed 22903930 | Author SearchProvides images of smoothed growth curves obtained from 120 non–growth hormone–treated white subjects with Prader-Willi Syndrome between 3 and 18 years of age from 4 states. Does not provide data that might allow one to implement the curves in an electronic format. Note published erratum citing minor formatting errors.
[su_cite_pediatrics url_fragment = ‘135/1/e126’ author = ‘Butler’ year = ‘2014’] | PubMed 25489013 | Author SearchGrowth 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
Growth charts for classic and atypical Rett Syndrome were derived from 9,749 observations of 816 girls. Mean growth in classic RTT decreased below that for the normative population at 1 month for head circumference, 6 months for weight, and 17 months for length. Mean BMI was similar in those with RTT and the normative population. Pubertal increases in height and weight were absent in classic RTT. Classic RTT was associated with more growth failure than atypical RTT. Includes curves plotted along with CDC norms for comparison.
Recommendations for well-child care for patients with Williams syndrome from the American Academy of Pediatrics Committee on Genetics. Includes growth charts based on data published in 1998. [su_cite_pediatrics url_fragment = ‘107/5/1192’ author = ‘AAP’ year = ‘2002’]
Growth curves for children with Laron syndrome on the basis of repeated measurements made throughout infancy, childhood, and puberty in 24 (10 boys, 14 girls) of 41 patients with this syndrome. Growth retardation was already noted at birth. Postnatal growth curves deviated sharply from the normal from infancy on. These growth curves constitute a model not only for primary, hereditary insulin-like growth factor-I (IGF-I) deficiency (Laron syndrome) but also for untreated secondary IGF-I deficiencies such as growth hormone gene deletion and idiopathic congenital isolated growth hormone deficiency.
Arch. Dis. Child. 1993 Jun;68(6):768-70
Laron 1993 (Arch Dis Child) | PubMed 8333769 | Author Search