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

System/Concern	Evaluation	Comment
Growth restriction	Measure height, weight, head circumference.	Use MOPDII-specific growth curves. ¹
Skeletal dysplasia	AP/lateral x-ray of thoracolumbar spine & AP x-ray of hips	X-rays in early childhood to evaluate for slipped capital femoral epiphysis, coxa vara, & scoliosis
Cerebrovascular	Brain MRI & MRA	Incl at birth, as both in utero strokes & moyamoya vasculopathy have been identified in neonatal period.
Cardiac	Echocardiogram, EKG
Renal	Renal ultrasound exam Measure blood pressure. If age ≥5 yrs, lab studies to assess renal function
Insulin resistance / Diabetes mellitus	If age ≥5 yrs, perform lab studies to assess glucose homeostasis, lipids, & hepatic function.
Cognitive abilities	Developmental assessment	Incl motor, adaptive, cognitive, & speech-language eval Eval for early intervention / special education
Genetic counseling	By genetics professionals ²	To inform affected persons & their families re nature, MOI, & implications of MOPDII 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.

System/Concern

Evaluation

Comment

Growth restriction

Measure height, weight, head circumference.

Use MOPDII-specific growth curves. ¹

Skeletal dysplasia

AP/lateral x-ray of thoracolumbar spine & AP x-ray of hips

X-rays in early childhood to evaluate for slipped capital femoral epiphysis, coxa vara, & scoliosis

Cerebrovascular

Brain MRI & MRA

Incl at birth, as both in utero strokes & moyamoya vasculopathy have been identified in neonatal period.

Cardiac

Echocardiogram, EKG

Renal

Renal ultrasound exam
Measure blood pressure.
If age ≥5 yrs, lab studies to assess renal function

Insulin resistance /
Diabetes mellitus

If age ≥5 yrs, perform lab studies to assess glucose homeostasis, lipids, & hepatic function.

Cognitive abilities

Developmental assessment

Incl motor, adaptive, cognitive, & speech-language eval
Eval for early intervention / special education

Genetic counseling

By genetics professionals ²

To inform affected persons & their families re nature, MOI, & implications of MOPDII 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.

From: Microcephalic Osteodysplastic Primordial Dwarfism Type II

GeneReviews^® [Internet].

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

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