Table 5 Actionable recommendations for care of craniofacial aspects of patients with skeletal dysplasia
From: Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia
Recommendation | Action |
|---|---|
Clinicians should evaluate for signs and symptoms of upper airway obstruction and for sleep disordered breathing in patients with skeletal dysplasia at each clinic visit | History and clinical exam |
Polysomnography should be performed in patients with skeletal dysplasia who have snoring or signs and symptoms of sleep disordered breathing | Polysomnography |
MRI* of the cranio-cervical junction should be considered in infants with achondroplasia and sleep disordered breathing | *Magnetic Resonance Imaging |
Patients with skeletal dysplasia should have hearing assessed at birth or time of diagnosis and at age 5Â years | Audiologic referral |
Comprehensive audiologic evaluation should be performed on any child with skeletal dysplasia who has speech delay, suspicion of hearing difficulties, or signs/symptoms of middle ear disease | Audiologic referral |
Tympanostomy tube insertion may be performed in children with skeletal dysplasia and unilateral or bilateral otitis media with effusion that is unlikely to resolve quickly, as reflected by a type B (flat) tympanogram or persistence of effusion for 3Â months or longer | Otolaryngology referral |
At the time of tympanostomy tube placement in children with achondroplasia, the surgeon should look for otoscopic signs of a high and/or dehiscent jugular bulb | Otolaryngology referral |
Children with skeletal dysplasia and a history of recurrent acute otitis media should be assessed for persistent middle ear disease | Physical examination and/or Otolaryngology referral |
Children with skeletal dysplasia and acute otitis media should be managed as per established guidelines for the general population | Physical examination and/or Otolaryngology referral |
Adenoidectomy and/or tonsillectomy should be considered first-line therapy for children with skeletal dysplasia and obstructive sleep apnea | Otolaryngology referral |
Children with skeletal dysplasia should undergo polysomnography before adenoidectomy and/or tonsillectomy is performed | Polysomnography |
Children with skeletal dysplasia who undergo adenoidectomy and/or tonsillectomy for obstructive sleep apnea should be monitored overnight for respiratory difficulties after surgery | Hospital admission |
Specialized dental and orthodontic care are part of the core clinical management of patients with skeletal dysplasia, starting in early childhood | Dental and orthodontic referral |
Stridor or hoarseness in patients who have skeletal dysplasia warrants further evaluation that may include imaging and/or evaluation of the larynx | Otolaryngology referral |
In infants with diastrophic dysplasia, auricular cystic swelling may occur. Incision and drainage techniques do not appear to improve outcomes | Consider compression moulds |