Table 5. [Osteoglophonic Dysplasia: Recommended Evaluations Following Initial Diagnosis]. - GeneReviews®

System/Concern	Evaluation	Comment
Skeletal	Referral to orthopedist Spine & long bone radiographs to detect platyspondyly & non-ossifying fibromas
Growth deficiency	Assess growth parameters.
Development	Assess for developmental disabilities incl speech & swallowing eval. Refer to early intervention services. Consider referral to neurodevelopmental specialist.
Craniofacial	Clinical assessment of face, head shape, fontanelles, & suture ridging	Assessing severity of maxillary hypoplasia is important to determine risk for airway compromise.
Head CT w/3D reconstruction to delineate suture involvement & guide preoperative planning	In those w/clinical manifestations of craniosynostosis
ENT	Assess for airway symptoms (snoring, stridor, apnea, respiratory distress). Consider consultation w/otolaryngologist & sleep medicine specialist to identify & quantify degree of sleep apnea.
Endocrine	Measure phosphate & FGF23 concentrations.	To assess for ↑ serum FGF23 & hypophosphatemia
Gastrointestinal	Clinical assessment for hernia
Genetic counseling	By genetics professionals ¹	To inform affected persons & their families re nature, MOI, & implications of OGD 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

Skeletal

Referral to orthopedist
Spine & long bone radiographs to detect platyspondyly & non-ossifying fibromas

Growth deficiency

Assess growth parameters.

Development

Assess for developmental disabilities incl speech & swallowing eval.
Refer to early intervention services.
Consider referral to neurodevelopmental specialist.

Craniofacial

Clinical assessment of face, head shape, fontanelles, & suture ridging

Assessing severity of maxillary hypoplasia is important to determine risk for airway compromise.

Head CT w/3D reconstruction to delineate suture involvement & guide preoperative planning

In those w/clinical manifestations of craniosynostosis

ENT

Assess for airway symptoms (snoring, stridor, apnea, respiratory distress).
Consider consultation w/otolaryngologist & sleep medicine specialist to identify & quantify degree of sleep apnea.

Endocrine

Measure phosphate & FGF23 concentrations.

To assess for ↑ serum FGF23 & hypophosphatemia

Gastrointestinal

Clinical assessment for hernia

Genetic counseling

By genetics professionals ¹

To inform affected persons & their families re nature, MOI, & implications of OGD 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: Osteoglophonic Dysplasia

GeneReviews^® [Internet].

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

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