PMC10020613_01
Family genogram, symptoms, and Sanger sequencing of the probands. (A,B) Genogram of the F1 family and F2 family. Black symbols represent the affected members, slashes indicate those who died, and the arrow indicates the proband. All recruited subjects underwent genetic testing, and their genotypes are identified by letters and a slash, with red representing variants. Question marks represent unknown data or symptoms. (C,D) F1 family proband had arachnodactyly and bilateral contracture of the fifth fingers. (E,F) Sequencing results of FBN2 variants using Sanger sequencing. The red arrow points to the variant site.
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F1
The proband (IV:2) of the F1 family was a six-year-old girl from Hunan province, China (Figure 1A). She was admitted to our hospital for her contractures of bilateral fifth fingers (Figures 1C, D). She was tall (1.3 m, >0.95%) and had slender limbs, arachnodactyly, and crumpled ears (Figure 1D).