PMC9157637_01
PMC9157637_02
PMC9157637_03
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PMC9157637_05
Phenotype of the first FHS patient in Russian Federation (A) Growth curve (top) and bone age dynamics (bottom) of the proband with Floating-Harbor syndrome. Colored lines represent the corresponding percentile of the reference male growth curve (data collected from https://www.cdc.gov/growthcharts/percentile_data_files.htm). On the bottom plot, the diagonal line represents 1:1 correspondence between actual age and bone age (B) A photo showing facial dysmorphisms of the proband (C) Photos showing the proband's hands (left) and feet (right). Typical skeletal features of FHS might be seen (bilateral brachyphalangy of the thumb; shortening of the fourth and fifth toes). Other typical features of our patient include: high-pitched voice; delayed speech development (his speech is composed of a limited set of simple words); intellectual disability; strabismus; growth and bone age delays).
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F1
A substantial growth delay can be seen (notised), which is concordant with a typical case of FHS (comparison of the normal growth curve and the growth of the proband is presented in Figure 1A). Nearly all of the aforementioned features are present in the phenotype of the proband (Figure 1B), with the exception of big ears and long eyelashes. In our proband the typical FHS features of arms and legs such as bilateral brachyphalangy of the thumb, shortening of the fourth and fifth toes are noticed (Figure 1C), though no short neck or additional rib pair are found.
PMC9157637_06
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