Cervico-oculo-Acoustic syndrome in a male with consanguineous parents.
BACKGROUND
The cervico-oculo-acoustic syndrome comprises Klippel-Feil anomaly, sensorineural deafness and Duane's retraction syndrome. Polygenic, autosomal dominant, and X-linked inheritance have been hypothesized. The disorder has rarely been reported in males.


METHODS
A 42-year-old male, born of consanguineous parents, presented with Duane's syndrome, mixed hearing loss, C2-C3 fusion, neck stiffness, and right facial palsy. A variety of cardiac, neurological and urogenital anomalies occurred in his relatives. The electro-oculographic studies showed impaired abduction and adduction of the right eye and impaired abduction of the left eye. Vergence, vertical eye movements and peripheral vestibular responses were normal. Somatosensory evoked potentials showed absence of the N13 peak and brainstem auditory evoked potentials bilateral delay of the I-III interpeak latencies.


CONCLUSIONS
Consanguinity of the patient's parents, not previously reported, suggests autosomal recessive inheritance, but autosomal dominant inheritance is indicated by the family history. The pattern of the oculomotor deficit is consistent with bilateral dysplasia of the abducens nuclei with preserved internuclear neurons in the right abducens nucleus. Neurophysiological investigations revealed lower brainstem and cervical cord involvement.
Di Maio
L
L
Dipartimento di Scienze Neurologiche, Università Federico II Naples, Italy.
Marcelli
V
V
Vitale
C
C
Menzione
M
M
De Giorgio
A
A
Briganti
F
F
Perretti
A
A
Marciano
E
E
Filla
A
A
De Michele
G
G
D000010:Abducens Nerve / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D000328:Adult; D001933:Brain Stem / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D025063:Chromosome Disorders / Q000235:genetics; D003241:Consanguinity; D004370:Duane Retraction Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D005072:Evoked Potentials, Auditory; D005073:Evoked Potentials, Somatosensory; D005799:Genes, Dominant / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D007714:Klippel-Feil Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D008297:Male; D009334:Neck Muscles / Q000294:innervation / Q000503:physiopathology; D015835:Ocular Motility Disorders / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree; D013116:Spinal Cord / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome