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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

From: A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report

Family/PatientSexAge at assessment (years)Phenotype, CSaChari-1 malfomationFacial dysmorphismOther phenotypic traitsReference
family 12Mb4pansynostosisunknownhypertelorism, dysplastic earsbrachydactyly of hands and feet, broad halluces, delayed development, poor attention span, problems with writingTwigg et al. 2013 [9]
patient 19M28pansynostosisyeshypertelorism, malar hypoplasia, frontal bossing, long philtrum, high palate, lowset earsinverted nipples, clinodactylyGlass et al. 2019 [12]
patient 25Fc<  1unicoronal synostosisnolong philtrum, short turned up nosejoint hypermobilityGlass et al. 2019 [12]
father of patient 25Mhypertelorism, mild malar hypoplasia, prognathismGlass et al. 2019 [12]
patient 1 (son/index)M0,16sagittal, bilateral lambdoidyesConstriction of the posterior skull, compensatory forehead expansion, hypertelorism, exorbitismBaranowska Körberg et al.
patient 2 (mother)F4sagittalunknownHypertelorism, exorbitismpoor attention span?Baranowska Körberg et al.
  1. Abbreviations: acraniocynostosis (CS), bmale (M), cfemale (F)