Table 2.

PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome: Frequency of Select Features

Feature% of Persons w/FeatureComment
Hypotonia 100%
Gross motor delay ~60%
Scoliosis/kyphoscoliosis 95%
Recurrent dislocations ~30%
Clubfoot ~20%
Osteopenia/osteoporosis ~20%
Skin manifestations 97%Hyperelastic & easily stretched skin
Cardiovascular manifestations ~30%Vascular rupture
Ocular manifestations 45%Bluish sclerae, refractive errors, scleral & ocular fragility/rupture, microcornea
Hernias ~15%Umbilical or inguinal

From: PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

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