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Table 1 Features in investigated families affected by non-lethal EVMPS

From: Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome

  Case IV:3 (Family 1) Case II:1 (Family 2) Case IV:3 (Family 3)
Consanguinity + - +
Feature  
 History of abortion/IUFD + - +
 Reduced fetal movement - + -
 Sex F F M
 Age at examination 1 month 2.5 months 7 years
 Short stature + + -
 Multiple contractures + + +
 Pterygium axilla + + +
 Pterygium elbows + - +
 Pterygium knees + - +
 Camptodactyly + + +
 Clenched hands + + -
 Thumb crossing palms + + -
 Clubfeet + + -
 Rockerbottom feet + - +
 Expressionless face - - +
 micrognathia + + +
 Downturned corners of mouth +   
 Low set ears - + -
 Downturned corners of mouth + - -
 High arched palate - - +
 Webbed neck/short neck + + +
 Long philtrum +   +
 Hearing loss NE NE -
 Cryptorchidism - - +
 Other Strabismus Dimpling of elbow, hemangioma on forehead and nose, Inguinal hernia Von willebrand hemophilia