Fig. 2: Photographs from six individuals with a pathogenic KCNN3 variant. | European Journal of Human Genetics

Fig. 2: Photographs from six individuals with a pathogenic KCNN3 variant.

From: Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies

Fig. 2

The three newly reported patients are indicated by P6–P8. Note the broad nasal tip, wide mouth, and coarse facial features. Same patient as child (a; at age 5 years) and as adult (b; at age 46 years) after cosmetic facial surgery (previously published in [23]). c, d Two additional individuals, both aged 5 years, previously reported in [23]. e Facial photograph of patient 6 (P6; at age 19 months) reported here (see Table 1 for details) showing epicanthal folds, with distal digital hypoplasia with hypoplastic finger nails (f). g Facial photograph of patient 7 (P7; at age 9 years) reported here (see Table 1 for details), with hypoplastic finger nails (h). i Facial photograph of patient 8 (P8; at age 30 years) reported here (see Table 1 for details), showing full lower lip, with hypoplastic toe nails (j) and hypoplastic finger nails (k).

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