Table 2.

EFEMP2-Related Cutis Laxa: Frequency of Select Features

Feature% of Persons w/Feature 1Comment
Arterial/aortic aneurysms>90%Most typically occurring in ascending aorta & aortic arch
Arterial tortuosity>90%
Arterial stenosis25%-90%Typically occurs in aortic isthmus
Early mortality25%-90%
Emphysema<25%
Diaphragmatic abnormalities25%-90%Diaphragmatic herniation, rupture
Cutis laxa25%-90%
Thin translucent skin<25%
Velvety skin<25%
Hernia25%-90%Inguinal, umbilical hernia
Micro-/retrognathia25%-90%
Long philtrum25%-90%
Widely spaced eyes25%-90%
Keratoglobus<25%
High palate25%-90%
Dysplastic ears<25%
Joint laxity or contractures25%-90%
Hypotonia25%-90%
Arachnodactyly25%-90%
Pectus deformity<25%Pectus excavatum or carinatum
Bone fragility<25%Bone fractures, rib/long bone defects, ↓ bone mineral density
1.

Based on Hebson et al [2014] and subsequent individual case reports

From: EFEMP2-Related Cutis Laxa

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