Table 2 Clinical summary.
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- Overview of the phenotype of the eight new index cases and affected family members with an EPHB4 VUS (FH1–FH5, VA1–VA2, and PL1) included in this study. Clinical details for the EPHB4 index cases and affected family members previously reported by Martin-Almedina et al. (GLDUK and GLDNOR)2 have been updated and included for comparison. Telangiectases are indicated in teal. Features originally described as associated with lymphatic-related fetal hydrops (LRFH) are indicated with a pale yellow. The lymphedema observed in PL1 is different on lymphoscintigraphy to that of individuals from the GLDUK and GLDNOR families, thus a darker shading has been used to indicate it. Refer to the Supplementary Information and Supplementary Table 1 for detailed clinical description of each case. “?” in the fetal hydrops column indicates that there were hydropic features at birth. “Normal” in the congenital heart defect column indicates that a normal echocardiogram was obtained. “(Yes)” in the persistent peripheral lymphedema column indicates that the individual is clinically normal, but abnormal lymphatic drainage was demonstrated on lymphoscintigraphy. Blank fields indicate the relevant procedure was not carried out or the information was not available.
- F female, FH fetal hydrops, GLD generalized lymphatic dysplasia, IUD intrauterine death, M male, ND neonatal death, PE pleural effusions, PL primary lymphedema, VA vascular anomaly.
- aMonozygotic twins.
- bThe type of EPHB4 variant suggests this could be a capillary malformation–arteriovenous malformation 2 (CM-AVM2) case, but telangiectasia was not confirmed.
