Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Campomelic Dysplasia

System/ConcernEvaluationComment
Respiratory distress due to
laryngotracheomalacia
or tracheobronchomalacia
Clinical eval
Cervical spine instability Lateral radiograph of cervical spine
Cleft palate Eval by craniofacial team incl feeding eval
Risk of gonadoblastoma in 46,XY phenotypic females Karyotype analysisIn phenotypic females to identify those w/46,XY karyotype
Clubfeet Referral to orthopedist
Hearing impairment Hearing screening
Genetic counseling By genetics professionals 1To inform affected persons & their families re nature, MOI, & implications of CD to facilitate medical & personal decision making

CD = campomelic dysplasia

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Campomelic Dysplasia

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