Skip to main content

Table 5 Clinical recommendations for surveillance in patients with terminal 6p deletions and subterminal 6p deletions including FOXC1

From: The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

Investigation

Upon diagnosis

Follow-up

Thorough neurologic investigation

 + 

i

 Brain MRI

 + 

i

 EEG

i*

i*

Thorough ophthalmological investigation with special attention paid to the anterior segment

 + 

a

 Refraction measurements

 + 

a

 Eye-pressure measurement

 + 

a

Hearing assessment

 + 

a/i**

 Imaging of the os petrosum

i***

i***

Cardiac ultrasound

 + 

i

Attention for lip and/or palate abnormalities

 + , if deletion > 4.02 Mb

i

Attention for tooth abnormalities

 + 

a/i**

 Referral to dental specialist

i

i

Attention for feeding problems and gastro-intestinal issues

 + 

 + 

Renal ultrasound

 + , if deletion > 4.02 Mb

i

Be aware of recurrent ear and respiratory tract infections

 + 

 + 

Assessment of growth and posture

 + 

a/i**

 Attention for foot deformities, scoliosis and epiphyseal dysplasia

 + 

 + 

 Referral to orthopaedics and/or rehabilitation specialist

i

i

Neurodevelopmental assessment

 + 

i

Attention for sleeping problems

 + 

 + 

  1. i upon indication, a annually
  2. *In case of clinical suspicion of seizures or severe sleeping problems
  3. **At least annually at a young age and upon indication at later ages
  4. ***In case of hearing loss