PMC10369338_01
Photographs or 3D sonographs of the three affected siblings, denoted by (A-C) from old to young, respectively. All the children had clenched hand with overlapping fingers and clubfoot (was difficult to be further classified). It is worth noting that microreflexia was found in the oldest patient and the second child (A, B), which cannot be recognized in the third child (C) due to the small gestational age.
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F1
The child was discharged from the hospital and then died at 3 months of age because of poor feeding (Figure 1A). Similarly, prenatal 3D-US showed the fetus had a clenched fetal hand with overlapping fingers and clubfoot (Figure 1C).
Family is X-linked recessive inheritance (XR), with square representing male and circle representing female. I-1, I-2, II-1, and II-3 are wild type, and III-2 is a family proband detected by WES that the diseased fetus was aborted at the gestational age of 22 weeks. II-2 is an asymptomatic carrier (the mother of the proband), III-3 was found to be sick at the gestational age of 13 weeks. III-1 died at 3 months, and the child did not undergo genetic testing (A). Pedigree diagram of the affected family with the members tested by WES or MED12 (NM_005120.2) c.887G-targeted sequencing. Sanger sequencing detected NM_005120.2) c.887G>A in three of the eight family members (B).
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F3
The family consisted of eight members of three generations, where all the offspring of the third generation represented inborn or intrauterine abnormalities; so, an induced abortion was performed on the proband (Figure 3A).