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. 2021 Feb 16;29(9):1384–1395. doi: 10.1038/s41431-021-00818-9

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© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — The facial photos are arranged in order of age from youngest to oldest. The five newly reported patients are indicated by P1–P5. Note the hypotonic facial expression, with open mouth posture and inverted V-shape of the upper lip, and apparent ptosis in some individuals. Facial shape elongates with age (third row), but myopathic facial features remain. a, b Patient 3 (P3; at age 16 months) and patient 4 (P4; at age 1 year 7 months) reported in this study (described in detail in Table 1). c Patient at age 3 years reported in [17] (with permission from Springer Nature). d Patient at age 4 years reported in [48] (with permission from John Wiley and Sons). e Patient at age 4 years 4 months reported in [18] (with permission from Springer Nature). f Patient at age 3 years 7 months reported in [49] (with permission from John Wiley and Sons). g Patient at age 6 years reported in [17] (with permission from Springer Nature). h Patient at age 6 years reported in [17] (with permission from Springer Nature). i Patient at age 6 years 10 months reported in [50] (with permission from Wiley and Sons). j Patient at age 7 years reported in [14]. k Patient at age 8 years reported in [17] (with permission from Springer Nature). l Patient at age 9 years reported in [16]. m Patient 2 (P2; at age 9 years) reported in this study (described in detail in Table 1) and previously reported in [18] (individual 3). n Patient at age 12 years reported in [14]. o Patient at age 13 years reported in [18] (with permission from Springer Nature). p Patient at age 12 years 8 months reported in [14]. q Patient at age 14 years reported in [18] (with permission from Springer Nature). r Patient (age unknown) reported in [14]. s Patient 1 (P1; at age 14 years) reported in this study (described in detail in Table 1). t Patient 5 (P5; at age 34 years) reported in this study (described in detail in Table 1). u, v Fingers of patient 3 (P3; at age 16 months; as described in detail in Table 1), showing proximally placed hypoplastic thumbs with hypoplastic nails. w, x Toes of Patient 3 (P3; at age 14 months; as described in detail in Table 1), showing anonychia of toes 1 and 2 and hypoplastic nails on toes 3–5. y, z Toes of patient 4 (P4; at age 3 years 10 months; as described in detail in Table 1), showing elongated toes with hypoplastic nails.