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Sporadic syndrome with cervical vertebral anomalies and optic atrophy.

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Congenital Optic Atrophy and Brachytelephalangy.

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Extremely rare; only two sporadic cases have been described.

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Initially described in a 16-year-old girl with congenital optic atrophy, posterior hemivertebrae with cervical kyphosis, and hypoplasia of distal phalanges. The second child with this syndrome had short stature, hypoplasia of the cervical vertebral bodies, and some degree of mental retardation, which possibly was attributable to visual and auditory impairment. Spastic quadriparesis was present in both cases.

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The extent of cervical vertebral malformations should be assessed because they can result in difficult airway management. Spastic quadriparesis may result in difficult positioning, so careful padding is required. Because of mild mental retardation and visual and hearing impairment, preoperative anxiolysis is recommended. The presence of the primary care-giver for induction of anesthesia may be helpful. Neither individual had other malformations.

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Behr Syndrome: Genetic disorder with bilateral optic atrophy, mental retardation, and ataxia.

Hartwell EA, Robinson LK, Robinson LH, et al: Congenital optic atrophy and brachytelephalangy: The Berk-Tabatznik syndrome. Am J Med Genet 29:383, 1988.  [PubMed: 3128111]

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