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. Author manuscript; available in PMC: 2016 Jun 10.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2007 Aug 15;145C(3):248–260. doi: 10.1002/ajmg.c.30137

TABLE II.

Clinical Findings of CdLS by System and Recommended Interventions in Adulthood

Childhood involvement Adult involvement Adult management
Congenital heart disease Typically stable Echocardiogram if never had
Primary teeth tend to be retained Panorex X-ray can be taken
Secondary teeth eruption delayed
Sinusitis and/or nasal polyps may
 produce symptoms
Lingual caries may develop with GERD
Sinusitis and/or nasal polyps may produce
 symptoms
(Pediatric) dental visits every 4–6 months.
ENT visits as needed; nasal polypectomy
 may be helpful
Cleft palate—should be repaired
Pyloric stenosis requiring surgery
Gastroesophageal reflux disease
Complications of GERD
Malrotation may be present
Cleft palate stable—may need repair
Constipation may persist
GERD may worsen
Barrett esophagus may occur
Risk for volvulus, intestinal perforation
Craniofacial team visits as needed
Diet, medications as needed
Regular gastrointestinal follow-up
Biopsies every 1–3 years after diagnosis
All patients need upper GI series and
 warning about presenting signs of
 volvulus (e.g. bilious vomiting)
Renal malformation, vesiculo-ureteral
 reflux (VUR)
Renal malformation, VUR Renal ultrasound on all patients, as
 indicated clinically
Cryptorchidism in males Cryptorchidism in males Orchiopexy and/or orchiectomy in
 childhood, monitor hormones later
Slightly delayed puberty females Irregular or no menses Hormonal treatment as needed; routine
 gynecology care with Pap smears every
 3 years
Lacrimal duct malformations Retinal detachment can occur with severe
 myopia
Regular ophthalmology visits, surgery as
 needed
Blepharitis Hip
dislocations
Blepharitis tends to improve
Leg length discrepancy, scoliosis, bunions
 may occur
Baby shampoo rinses
Orthopaedic visits as needed
Seizures may occur or worsen
Peripheral neuropathy may produce
 symptoms
Seizures may occur or worsen
Peripheral neuropathy may produce
 symptoms
Pediatric neurology, medications Medications
may be helpful
Behavioral issues (SIB, anxiety, aggression)
 may worsen
Behavioral issues (SIB, anxiety, aggression)
 may worsen
Psychiatrist or psychologist intervention
 may be helpful