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Am J Med Genet A. 2014 Sep;164A(9):2300-9. doi: 10.1002/ajmg.a.36654. Epub 2014 Jul 2.

Growth charts for individuals with Rubinstein-Taybi syndrome.

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Department of Pediatrics, Emma's Children's Hospital/Academic Medical Center, Amsterdam, The Netherlands.


Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder characterized by variable degrees of intellectual disability, an unusual face, distal limb anomalies including broad thumbs and broad halluces, a large group of variable other major and minor anomalies, and decreased somatic growth. The aim of the present study was to construct up-to-date growth charts specific for infants and children with RSTS. We collected retrospective growth data of 92 RSTS individuals of different ancestries. Data were corrected for secular trends and population of origin to the Dutch growth charts of 2009. On average, 17.9 measurements were available per individual. Height, weight and body mass index (BMI) references for males and females were constructed using the lambda, mu, sigma method. RSTS individuals had normal birth weight and length. Mean final heights were 162.6 cm [-2.99 standard deviation score (SDS)] for males and 151.0 cm [-3.01 SDS] for females. BMI SDS compared to the general Dutch population were -0.06 and 1.40 SDS for males and females, respectively. Head circumference SDS compared to the general Dutch population was -1.89 SDS for males and -2.71 SDS for females. This is the first study to publish growth charts using only molecularly proven RSTS individuals. These syndrome-specific growth charts can be used in managing problems related to growth in RSTS individuals.


Rubinstein-Taybi syndrome; body mass index; growth charts; microcephaly; short stature

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