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Syndrome characterized by unilateral or bilateral microphthalmos and blepharoptosis. In rare cases, affected infants present anophthalmia, severe mental retardation, microcephaly, and malformations of the teeth, ears, and digits.

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Lenz Dysplasia; Lenz Syndrome II; Lenz Dysmorphogenic Syndrome; Lenz Microphthalmia Syndrome; Microphthalmia with Associated Anomalies (MAA).

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Twenty case reports in the literature.

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Genetic inheritance is controversial. Most cases are X-linked (gene map locus is Xq27-Xq28), but an autosomal inheritance cannot be excluded in some cases.

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Pathophysiologic background has not been determined.

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Based on clinical features.

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Microcephaly with mental retardation, and various anomalies of external ear, digits (double thumbs), heart, skeleton, and urogenital system. Features of the syndrome include severe ophthalmic abnormalities possibly including microphthalmia (even anophthalmos), absent pupil, microcornea, and a variety of craniofacial anomalies such as microcephaly, auricular malformations, and dental abnormalities. Other features include skeletal anomalies with underdeveloped shoulders, webbed neck, cardiac malformations (bicuspid aortic valve), hypospadias, and other severe urogenital anomalies. Most patients are mentally retarded with dilatation of the lateral ventricles (hydrocephalus) and dysgenesis of the corpus callosum.

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Thorough history and examination are necessary to determine the extent of the syndrome. Particular note should be made of the following:

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  • Central nervous system involvement including epilepsy, mental retardation, and possible blindness
  • Respiratory system involvement as a result of restrictive skeletal abnormalities
  • Urogenital involvement, possibly to the point of renal impairment
  • Craniofacial abnormalities that may cause airway difficulties
  • Cardiac evaluation (echocardiography, electroencephalography) to eliminate associated defects

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Because of the versatility in the expression of the syndrome, each patient must be evaluated individually. The potential association with multiple organ system involvement and anesthesia raises numerous considerations and challenges. Based on proper preoperative evaluation of the cardiovascular and respiratory systems, including the airway, anesthesia considerations are directed by the associated anomalies rather than the syndrome itself. The association of microcephaly, cleft lip and palate, and respiratory problems may lead to difficult induction of anesthesia.

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No specific implications reported for this medical condition. However, in the presence of difficult airway management, use of muscle relaxants should be postponed until the trachea has been secured and lung ventilation confirmed. The presence of microcephaly should indicate a need to reduce the amount of anesthetic used to maintain hemodynamic stability and a proper depth of surgical anesthesia.

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Aicardi Syndrome: X-linked syndrome affecting females only, characterized by the absence of corpus callosum, infantile spasms by age 3 months because of closure of the final neural synapses in the brain, mental retardation, and lacunae of the retina.

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Goltz Syndrome: X-linked dominant disease with in utero lethality in males characterized by focal dermal hypoplasia, asymmetrical limb defects, and a variety of additional anomalies; very similar to Aicardi syndrome.

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MIDAS Syndrome: X-linked phenotype distinct from Goltz syndrome; characterized by microphthalmia, ...

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