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Diagnosed with Moebius-Poland syndrome shortly after birth this middle-aged man had a partially developed right-hand and pectoral dysplasia (fig 1). In addition there was a lack of facial expression. Neurological examination revealed bilateral facial and abducens nerve palsies (fig 2) and fasciculation of the tongue suggesting involvement of cranial nerves XI and XII.
MRI of the brain and brainstem revealed that only the VIII cranial nerves were clearly seen to exit in the cranio-pontine angles. Needle electromyography of the muscles of the right arm and right pectoralis major showed polyphasic motor units compatible with dysgenesis of these motor groups.
Moebius-Poland syndrome is a rare congenital disorder, estimated to have a prevalence of around one case per 500 000. It presents with cranial nerve palsies affecting the VI and VII cranial nerves (Moebius syndrome) and limb deformities with pectoral muscle dysplasia (Poland syndrome). Occasionally, other cranial nerves, including the V, X, XI and XII are involved. The condition is non-progressive, patients are usually of normal intelligence and full life expectancy is the norm.
These features may result in children of women who have taken one of several compounds, including misoprostol,1 cocaine,2 thalidomide3 or ergot derivatives, at around the 6–8 week period of gestation. The proposed aetiology is one of vasoconstriction, causing intrauterine vascular disruption, brain stem maldevelopment with resultant facial, limb and pectoral disfigurement. The largest number of cases has been described in women who have taken misoprostol in illegal and unsuccessful attempts at fetal abortion.
Moebius-Poland syndrome can be caused by medicines and drugs in common use today.
The widespread recreational use of cocaine should be of particular concern.
Competing interests: none.
Patient consent: Patient/guardian consent was obtained for publication.
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