Growth charts for individuals with Coffin-Siris syndrome.
Coffin-Siris syndrome (CSS; OMIM #135900) is a rare, multisystem syndrome caused by pathogenic variants in genes encoding the BRG-1 associated factors complex (BAF). Individuals with CSS often present with feeding difficulties and failure to thrive during infancy, in addition to a number of variable congenital anomalies. Nutritional interventions are used to support growth in this population, and growth hormone therapy has been reported in a limited number of cases. The purpose of this study was to construct CSS-specific growth charts to better characterize the growth in this population. Anthropometric data were collected from 99 individuals enrolled in the CSS/BAF pathway international registry via a retrospective chart review. All measurements obtained after the first exposure to growth hormone therapy were excluded from this analysis. Sex-specific centiles (5th, 50th, and 95th) were estimated for height, weight, and head circumference from birth to age 10. Cubic smoothing splines were then fit to the centile estimates and superimposed on normative male and female growth curves for comparison. The CSS patients in this cohort exhibited normal growth parameters at birth. By age 10, the weight and head circumference of the CSS cohort began to approach normal parameters. Stature, however, remained shortened at 10 years of age.
['McCague|Emily A|EA|', 'Lamichhane|Rajan|R|', 'Holt|Nicole|N|', 'Schrier Vergano|Samantha A|SA|https://orcid.org/0000-0001-9194-0644']
D000015:Abnormalities, Multiple D002648:Child D002675:Child, Preschool D004265:DNA Helicases D005145:Face D005260:Female D056726:Genetic Association Studies D020022:Genetic Predisposition to Disease D057238:Growth Charts D006228:Hand Deformities, Congenital D006801:Humans D007223:Infant D007231:Infant, Newborn D008607:Intellectual Disability D008297:Male D008844:Micrognathism D009333:Neck D009687:Nuclear Proteins D014157:Transcription Factors
Coffin-Siris syndrome growth curves BAF complex anthropometry fifth digit short stature