Sleep disturbances in 22q11.2 deletion syndrome: a case with obstructive and central sleep apnea.

Abstract:

:The 22q11.2 deletion syndrome is characterized by wide phenotypic variability, frequently involving characteristic craniofacial features, cardiac malformations, and learning difficulties. Skeletal anomalies are also common and include an obtuse angle of the cranial base, retrognathia, and cervical spine abnormalities. Despite these anomalies, sleep-disturbed breathing is not reported frequently in patients with 22q11.2 deletion syndrome. We describe a patient with an obstructive sleep disturbance that was successfully treated with a tonsillectomy followed by mandibular distraction osteogenesis. She also had central sleep apnea, initially attributed to spinal cord impingement from cervical instability. Posterior cervical fusion was associated with a decrease in the number of central apneic events.

authors

Heike CL,Avellino AM,Mirza SK,Kifle Y,Perkins J,Sze R,Egbert M,Hing AV

doi

10.1597/05-196

subject

Has Abstract

pub_date

2007-05-01 00:00:00

pages

340-6

issue

3

eissn

1055-6656

issn

1545-1569

pii

05-196

journal_volume

44

pub_type

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