Table 1 Overview of the clinical features of ERF variant c.1201_1202delAA p.Lys401Glufs*10 as reported by Twigg et al. 2013, Glass et al. 2019 and the present study
Family/Patient | Sex | Age at assessment (years) | Phenotype, CSa | Chari-1 malfomation | Facial dysmorphism | Other phenotypic traits | Reference |
|---|---|---|---|---|---|---|---|
family 12 | Mb | 4 | pansynostosis | unknown | hypertelorism, dysplastic ears | brachydactyly of hands and feet, broad halluces, delayed development, poor attention span, problems with writing | Twigg et al. 2013 [9] |
patient 19 | M | 28 | pansynostosis | yes | hypertelorism, malar hypoplasia, frontal bossing, long philtrum, high palate, lowset ears | inverted nipples, clinodactyly | Glass et al. 2019 [12] |
patient 25 | Fc | < 1 | unicoronal synostosis | no | long philtrum, short turned up nose | joint hypermobility | Glass et al. 2019 [12] |
father of patient 25 | M | – | – | – | hypertelorism, mild malar hypoplasia, prognathism | – | Glass et al. 2019 [12] |
patient 1 (son/index) | M | 0,16 | sagittal, bilateral lambdoid | yes | Constriction of the posterior skull, compensatory forehead expansion, hypertelorism, exorbitism | – | Baranowska Körberg et al. |
patient 2 (mother) | F | 4 | sagittal | unknown | Hypertelorism, exorbitism | poor attention span? | Baranowska Körberg et al. |