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Phenotypic Analysis of Patients with SMC1A Mutations and Epilepsy

the Cornelia de Lange Syndrome (CdLS) Foundation USA
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In individuals with CdLS, the nose is often characterised by a low, inward curving nasal bridge and easily visible nostrils. Recurrent sinus infections are common in CdLS and are thought to be caused by an atypically structured nose and impaired immune system.

Some individuals with CdLS have been reported to have soft, painless growths on the lining of their nasal passages or sinuses (nasal polyps).

They usually have a small mouth, small chin, short neck, stiff jaw joints and cleft palate. Therefore, anaesthesiologists should be made aware of the potential difficulty with intubation in individuals with CdLS before surgery.

Recommendation(s)

Mouth, nose and throat

R42
The anaesthesiologist should be aware of the potential difficulty with intubation in individuals with CdLS.

                                                                                                                                                                                                                                                                                                         

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