“…The common findings in these patients were prenatally detected restriction of movements; craniofacial dysmorphisms, including down-slanting palpebral fissures, low-set ears, and micrognathia; and multiple contractures of the limbs ( Figure 2B). The distribution of CHRNG mutations detected in our study is shown in Figure 2, C and D. Two of the identified CHRNG mutations have not been reported, while the other mutations, including the recurrent mutation, have been reported previously in MPS patients (20,36). In 1 of 3 patients with the same homozygous CHRNG mutation (BAB5611), we additionally identified another homozygous deleterious mutation in a different arthrogryposis gene, ERCC2 (c.1775G>A; p.Arg592His) (Figure 2A Other identified variants in known genes are delineated in Tables 1 and 2.…”