Table 4. [PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome: Recommended...]. - GeneReviews®

System/Concern	Evaluation	Comment
Neuromuscular	PT eval to develop plan for ongoing therapy to strengthen large muscle groups & prevent recurrent shoulder dislocation
Musculoskeletal	Eval for kyphoscoliosis incl photographs & radiographs	Documentation is recommended in view of progressive kyphoscoliosis.
Referral to orthopedics for those w/clubfoot
Skin	Consultation w/dermatologist to review skin findings & discuss treatment of abnormal wound healing
Cardiovascular	Measurement of aortic root size & assessment of heart valves by echocardiogram	At diagnosis or by age 5 yrs
Visualization of entire aorta w/CT or MRA	By young adulthood, or earlier if aortic or arterial dilatation is identified on echocardiogram
Eyes	Formal ophthalmologic eval for myopia, astigmatism, & retinal detachment
Hernia	Referral to surgery for those needing hernia repair
Genetic counseling	By genetics professionals ¹	To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of PLOD1-kEDS to facilitate medical & personal decision making

System/Concern

Evaluation

Comment

Neuromuscular

PT eval to develop plan for ongoing therapy to strengthen large muscle groups & prevent recurrent shoulder dislocation

Musculoskeletal

Eval for kyphoscoliosis incl photographs & radiographs

Documentation is recommended in view of progressive kyphoscoliosis.

Referral to orthopedics for those w/clubfoot

Skin

Consultation w/dermatologist to review skin findings & discuss treatment of abnormal wound healing

Cardiovascular

Measurement of aortic root size & assessment of heart valves by echocardiogram

At diagnosis or by age 5 yrs

Visualization of entire aorta w/CT or MRA

By young adulthood, or earlier if aortic or arterial dilatation is identified on echocardiogram

Eyes

Formal ophthalmologic eval for myopia, astigmatism, & retinal detachment

Hernia

Referral to surgery for those needing hernia repair

Genetic counseling

By genetics professionals ¹

To obtain a pedigree & inform affected persons & their families re nature, MOI, & implications of PLOD1-kEDS to facilitate medical & personal decision making

From: PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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