[Möbius syndrome: ocular and clinical manifestations].
OBJECTIVE
To assess ocular and clinical manifestations in patients with Möbius syndrome.


METHODS
Twenty-seven patients (26 infants and 1 adult) underwent prospective ophthalmic, clinical, neurological, otorhinological, orthopedic and electrophysiological assessment. Twenty-three patients underwent MRI and 20 patients genetic examination with karyotype.


RESULTS
Three of 27 patients with cranial nerve palsies did not satisfy the criteria for Möbius syndrome. All 24 patients with Möbius syndrome had facial palsy. Nineteen patients (79.2%) had limited abduction. Eleven patients (45.9%) presented with esotropia, five patients (20.8%) presented with exotropia or hypertropia. Cranial nerve impairment of the Vth, IXth, XIth, and XIIth nerves was noted in 20 patients (83.4%). Other signs were general motor disability in 14 patients (58.2%), orthopedic abnormalities in eight patients (33.3%), and otorhinological abnormalities in six patients (25%). Electromyographic studies of facial muscles revealed neuromuscular changes in all cases. MRI findings showed hypoplasia of facial nerves in two patients (8.3%). Chromosomal abnormalities were not found. One patient presented an inherited inversion of the sixth chromosome.


CONCLUSIONS
The diagnosis of Möbius syndrome may be difficult in some patients with atypical signs of facial diplegia and other cranial nerve palsies. When diagnosing Möbius syndrome, all ophthalmologic and clinical signs must be applied. Möbius syndrome is more than a cranial nerve or nuclear disorder. It is a syndrome of more complex lower brainstem involvement.
Momtchilova
M
M
Service d'Ophtalmologie, Hôpital Armand Trousseau, Paris, France. secretariat.ophtalmologie@trs.ap-hop-paris.fr
Pelosse
B
B
Rocher
F
F
Renault
F
F
Laroche
L
L
D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000209:etiology*; D005158:Facial Paralysis / Q000209:etiology; D006801:Humans; D020331:Mobius Syndrome / Q000175:diagnosis*