Table 7. [Recommended Evaluations Following Initial Diagnosis in Infants with Perinatal Hypophosphatasia]. - GeneReviews®

System/Concern	Evaluation	Comment
Calcium homeostasis	Serum calcium, phosphorus, magnesium Referral to endocrinologist for mgmt of bone health	To identify those at risk of apnea &/or seizures due to hypercalcemia
Pulmonary insufficiency	Clinical assessment of pulmonary function	To assist in prognosis & distinguishing between severe & benign perinatal types
Orthopedic manifestations	Orthopedic eval Skeletal survey incl radiographs of skull to assess for craniosynostosis
Seizures	Eval by neurologist for suspected seizures
Craniosynostosis	Eval by craniofacial specialists &/or neurosurgeon for those w/craniosynostosis
Renal function	Blood urea nitrogen & serum creatinine concentration Referral to nephrologist
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support; Home nursing referral.
Genetic counseling	By genetics professionals ¹	To inform affected persons & families re nature, MOI, & implications of hypophosphatasia to facilitate medical & personal decision making

System/Concern

Evaluation

Comment

Calcium
homeostasis

Serum calcium, phosphorus, magnesium
Referral to endocrinologist for mgmt of bone health

To identify those at risk of apnea &/or seizures due to hypercalcemia

Pulmonary
insufficiency

Clinical assessment of pulmonary function

To assist in prognosis & distinguishing between severe & benign perinatal types

Orthopedic
manifestations

Orthopedic eval
Skeletal survey incl radiographs of skull to assess for craniosynostosis

Seizures

Eval by neurologist for suspected seizures

Craniosynostosis

Eval by craniofacial specialists &/or neurosurgeon for those w/craniosynostosis

Renal function

Blood urea nitrogen & serum creatinine concentration
Referral to nephrologist

Family support
& resources

Assess need for:

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

Genetic
counseling

By genetics professionals ¹

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

From: Hypophosphatasia

GeneReviews^® [Internet].

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

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