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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