Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with a FAM111A-Related Skeletal Dysplasia

System/ConcernEvaluationComment
Constitutional Growth assessment incl height, weight, body mass index & growth velocity, limb proportions, & upper-to-lower body segment proportions
Respiratory
  • Chest x-ray
  • Assessment of respiratory rate, effort, skin color, & oxygen saturations
In those w/OCS
Musculoskeletal
  • Complete radiologic skeletal survey
  • Orthopedic consultation
  • Functional assessment
  • Assess extent of skeletal malformations.
  • Eval by orthopedic specialist experienced in skeletal dysplasia
  • Consider eval of functional limitations & ADL.
  • Referral to PT &/or OT as needed
Neurologic
  • Head CT to assess for hydrocephalus or other brain malformation &/or craniosynostosis
  • Consider brain MRI to assess for intracranial calcifications, predominantly of basal ganglia.
Endocrine
  • Serum calcium, phosphorous, 25-hydroxyvitamin D, magnesium, & parathyroid hormone
  • Assess for complications from acute or chronic hypocalcemia (e.g., tetany, soft tissue calcifications).
  • Referral to endocrinology
  • Exam for micropenis &/or small testes
Consider renal ultrasound for nephrocalcinosis in older children & adults.
Ophthalmologic Ophthalmology examEval for refractive errors, microphthalmia, astigmatism, pseudopapilledema, & cataract
Dental Dental assessmentWhen teeth erupt, preferably by age 2-3 yrs
Hematologic
  • Abdominal ultrasound to assess for splenic hypoplasia/aplasia
  • CBC
In those w/OCS
Developmental Developmental assessment to incl motor, adaptive, cognitive, & speech-language eval
  • In those w/OCS
  • As needed in those w/KCS; note almost all affected persons had normal development & cognition
Psychosocial
  • Assessment for adaptive needs due to short stature
  • Referral to support resources
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of FAM111A-related skeletal dysplasias to facilitate medical & personal decision making
Family support
& resources 		Assess need for:

ADL = activities of daily living; CBC = complete blood count; KCS = Kenny-Caffey syndrome; MOI = mode of inheritance; OCS = osteocraniostenosis; OT = occupational therapy; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: FAM111A-Related Skeletal Dysplasias

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