Table 6. [Recommended Surveillance for Individuals with...]. - GeneReviews®

System/Concern	Evaluation	Frequency
Growth restriction	Measurement of growth parameters ¹ for appropriate mgmt & expectations	At each visit
Skeletal dysplasia	Serial x-rays of hips in early childhood Evaluate for scoliosis through skeletal maturity. ^2, 3	Annually or more often as needed
Dental abnormalities	Routine dental care ³ Prosthodontist may be required for small implants in early adulthood.	Every 6 mos
Hematologic abnormalities	Complete blood count ³	Annually
Cerebrovascular disease	Brain MRA/MRI ^3, 4	Childhood: Every 12-18 mos
Adulthood: Every 12-24 mos
Coronary artery disease	Monitor blood pressure w/appropriately sized cuff. ^3, 4 Consider 110/70 as cutoff for hypertension in adulthood. ⁴ Consider echocardiogram & EKG as well.	Annually
Renal	Starting at age 5 yrs: Monitor renal function ^3, 4
Insulin resistance &/or diabetes mellitus	Starting at age 5 yrs, lab assessment of glucose homeostasis, lipids, & hepatic function ^3, 4, 5
Cognitive ability	Monitor developmental progress & educational needs.	At each visit
Family	Assess family need for social work support (e.g., respite care, other local resources) or follow-up genetic counseling when new questions arise.

System/Concern

Evaluation

Frequency

Growth
restriction

Measurement of growth parameters ¹ for appropriate mgmt & expectations

At each visit

Skeletal
dysplasia

Serial x-rays of hips in early childhood
Evaluate for scoliosis through skeletal maturity. ^2, 3

Annually or more often as needed

Dental
abnormalities

Routine dental care ³
Prosthodontist may be required for small implants in early adulthood.

Every 6 mos

Hematologic
abnormalities

Complete blood count ³

Annually

Cerebrovascular
disease

Brain MRA/MRI ^3, 4

Childhood: Every 12-18 mos

Adulthood: Every 12-24 mos

Coronary artery
disease

Monitor blood pressure w/appropriately sized cuff. ^3, 4
Consider 110/70 as cutoff for hypertension in adulthood. ⁴
Consider echocardiogram & EKG as well.

Annually

Renal

Starting at age 5 yrs: Monitor renal function ^3, 4

Insulin resistance
&/or
diabetes mellitus

Starting at age 5 yrs, lab assessment of glucose homeostasis, lipids, & hepatic function ^3, 4, 5

Cognitive ability

Monitor developmental progress & educational needs.

At each visit

Family

Assess family need for social work support (e.g., respite care, other local resources) or follow-up genetic counseling when new questions arise.

From: Microcephalic Osteodysplastic Primordial Dwarfism Type II

GeneReviews^® [Internet].

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

Seattle (WA): University of Washington, Seattle; 1993-2024.

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