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. 2014 Dec 24;23(9):1151–1157. doi: 10.1038/ejhg.2014.273

Figure 2.

Figure 2

Macroscopic appearance of four fetuses homozygous for the c.1724T>C; p.(Ile575Thr) variant in MUSK. (a) Case 6, stillborn at a gestational age of 33 weeks; (b) case 8, termination of pregnancy at 23 weeks; (c) case 10, died immediately after birth at 32 weeks; (d) case 11, termination of pregnancy at 22 weeks. Note the multiple contractures, facial appearance of hypertelorism and micro-retrognathia, club feet (b–d), oligodactyly of the right foot (c), plantar flexion of the feet (a). For details see Table 1. Bars indicate 5 cm.