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Genetic disorder mainly characterized in affected males by ocular anomalies (e.g., microphthalmos), microencephaly, mental retardation, agenesis of the corpus callosum, and urogenital anomalies. Lethal in infancy.

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Cerebro-Oculo-Genital Syndrome.

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The first report described four related males in 1985. Transmission is X-linked recessive.

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Diagnosis is clinical, based mostly on the ocular findings and on imaging studies confirming absence of the corpus callosum. Affected male patients present with complicated ocular anomalies such as microphthalmos, corneal hypoplasia and pannus, cataracts, uveal and optic nerve hypoplasia, retinal dysplasia, and congenital blepharoptosis and swollen eyelids. Other consistent findings are microcephaly, agenesis of the corpus callosum, mental retardation, hypospadias, and cryptorchidism. The condition is lethal in infancy or early childhood.

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Because patients with this syndrome are mentally delayed and almost blind, obtaining their cooperation may be difficult. Sedative and anxiolytic premedication and the presence of the primary caregiver during induction of the anesthesia may be helpful.

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Lenz Syndrome: Very rare disorder with multiple anomalies, such as neurologic, craniofacial, ocular, skeletal, and urogenital findings.

Duker JS, Weiss JS, Siber M, et al: Ocular findings in a new heritable syndrome of brain, eye, and urogenital abnormalities. Am J Ophthalmol 99:51, 1985.  [PubMed: 3917610]

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