Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Apert Syndrome

System/
Concern		EvaluationComment
Craniofacial Physical exam to identify cleft palate, ear anomalies, face shape, fontanelles, suture ridging, & skull base symmetryAssessing degree of maxillary hypoplasia is important for determining risk for airway compromise.
Eyes Consultation w/pediatric ophthalmologist 1Incl assessment of eye surfaces, eye alignment, & optic nerves
Ears Ear-specific hearing eval
Respiratory Assess for airway symptoms (snoring, stridor, apnea, respiratory distress).
Overnight polysomnography (sleep study)To identify & quantify degree of sleep apnea 2
Consider consultation w/otolaryngologist & sleep medicineAirway endoscopy (flexible bedside endoscopy & diagnostic laryngoscopy & bronchoscopy) may help identify types & degree of airway narrowing. 3
Cardiovascular Cardiac assessmentEchocardiogram if a murmur is present or if clinical cardiac concerns
Gastrointestinal Upper GI w/small bowel follow-through if symptomatic or during preoperative eval for gastrostomy tubeTo evaluate for intestinal malrotation
Genitourinary Assessment for cryptorchidism in malesReferral to urologist
Renal ultrasoundTo evaluate for hydronephrosis
Musculoskeletal CT scan of head/skull/suturesCT w/3D reconstruction will delineate degree of suture involvement & help w/preoperative planning.
Cervical spine imaging to evaluate for vertebral fusions & instabilityCT of cervical spine before cranial surgery; or perform radiograph after age 2 yrs (when vertebrae are ossified)
Hand radiographs to evaluate extent of syndactyly, which commonly includes bony fusion, or symphalangismConsultation w/hand surgeon
Neurologic CT scan or MRI of the head to evaluate for hydrocephalus & CNS anomaliesIf concern for hydrocephalus or Chiari malformation, consider brain MRI.
Other Assessment for developmental disabilitiesConsider referral to a neurodevelopmental specialist / early intervention services
Consultation w/clinical geneticist & genetic counselorTo incl recurrence risk counseling

CNS = central nervous system; CT = computed tomography; GI = gastrointestinal; MRI = magnetic resonance imaging

1.

Early detection and management of amblyopia, encouraging timely decompressive surgery before the presence of optic nerve atrophy, and protection of the cornea are the management goals for ophthalmologists [Khong et al 2006a].

2.
3.

From: Apert Syndrome

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