Table 4. [Recommended Evaluations Following Initial Diagnosis in Individuals with Pycnodysostosis]. - GeneReviews®

System/Concern	Evaluation	Comment
Constitutional	Growth assessment Eval for growth hormone & IGF-1 deficiency as early as practicable	Consider referral to nutritionist if needed for weight mgmt.
Musculoskeletal	Complete radiographic skeletal survey incl lateral spine radiographs
Consider skull CT.	If clinical concern re craniosynostosis
Orthopedic consultation	Eval by specialist experienced in skeletal dysplasia if possible
ENT	Eval for cleft palate or narrow nasal passages Baseline audiology eval
Respiratory	Polysomnography	For all affected persons as early as practicable
Dental	Baseline dental eval
Neurologic	Consider MRI.	If neurologic symptoms or concern re Chiari malformation
Eyes	Baseline ophthalmologic exam
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of pycnodysostosis to facilitate medical & personal decision making
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support; Home nursing referral.

System/Concern

Evaluation

Comment

Constitutional

Growth assessment
Eval for growth hormone & IGF-1 deficiency as early as practicable

Consider referral to nutritionist if needed for weight mgmt.

Musculoskeletal

Complete radiographic skeletal survey incl lateral spine radiographs

Consider skull CT.

If clinical concern re craniosynostosis

Orthopedic consultation

Eval by specialist experienced in skeletal dysplasia if possible

ENT

Eval for cleft palate or narrow nasal passages
Baseline audiology eval

Respiratory

Polysomnography

For all affected persons as early as practicable

Dental

Baseline dental eval

Neurologic

Consider MRI.

If neurologic symptoms or concern re Chiari malformation

Eyes

Baseline ophthalmologic exam

Genetic
counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of pycnodysostosis to facilitate medical & personal decision making

Family support
& resources

Assess need for:

Community or online resources such as Parent to Parent;
Social work involvement for parental support;
Home nursing referral.

From: Pycnodysostosis

GeneReviews^® [Internet].

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

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