Am J Med Genet A. 2025 Mar 29:e64075. doi: 10.1002/ajmg.a.64075. Online ahead of print.
ABSTRACT
Wolf-Hirschhorn syndrome (WHS) is a rare, highly variable contiguous gene deletion syndrome caused by deletions of the distal portion of the short arm of chromosome 4. Individuals with this disorder have prenatal onset of poor growth of all dimensions, along with neurological manifestations, developmental disability, and distinctive facial appearance. There are two previously published growth charts for individuals with WHS. Antonius and colleagues included 101 children aged 0-4 years, and Shimojima and Yamamoto included 34 individuals ranging from 15 months to 24 years of age. We present detailed length/height and weight curves on an additional 65 patients from birth to 18 years of age and occipitofrontal circumference curves from birth to 2 years of age. Our data provide additional insight into growth patterns for individuals with WHS. As expected, these individuals are generally smaller than typically growing individuals for all parameters. Unexpected findings included near absence of the pubertal growth spurt and a higher-than-expected number of individuals overlapping the typical growing range. Growth charts are a critical part of pediatric healthcare, and syndrome-specific growth charts are particularly important in conditions where abnormal growth is a major feature. These additional growth charts serve as a useful addition to the literature on WHS, particularly providing additional information on growth through puberty and final adult height.
PMID:40156374 | DOI:10.1002/ajmg.a.64075
