Table 4. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Musculoskeletal	Orthopedic evaluation; full skeletal survey	To assess limb length differences, kyphoscoliosis, & other skeletal abnormalities
Respiratory	Pulmonary evaluation	In individuals w/severe scoliosis that compromises respiratory function
Integument	Dermatology evaluation
Eyes	Ophthalmologic evaluation	To evaluate for congenital cataracts & other ocular abnormalities
Hearing	Hearing evaluation	To evaluate for hearing loss
Renal	Renal ultrasound examination	To identify & monitor hydronephrosis
Other	Consultation w/clinical geneticist &/or genetic counselor	To incl genetic counseling

From: Chondrodysplasia Punctata 2, X-Linked

GeneReviews^® [Internet].

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

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