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Inherited syndrome characterized by anomalies of the eyes and extremities and mental delay.

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Extremely rare syndrome in which both autosomal dominant and recessive inheritance have been suggested, although the recessive mode is favored.

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Stigmata of this syndrome are mental retardation, iris colobomata or aniridia, obesity, short stature, postaxial polydactyly, and hypogenitalism. Occasionally, absent incisor teeth, hydrocephalus, arachnoid cysts, cryptorchidism, and hypospadias are found.

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No reports exist about this syndrome in the context of anesthesia. Mental retardation can affect the cooperation of the patient, and sedative premedication and/or the presence of the primary care-giver for induction of anesthesia may be helpful.

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Bardet-Biedl Syndrome: Characterized by mental retardation, pigmentary retinopathy, polydactyly, obesity, renal anomalies, and hypogenitalism.

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Laurence Moon Syndrome (LMS): Autosomal recessive inherited syndrome with mental retardation, congenital cardiac disease, pigmentary retinopathy, hypogenitalism, and spastic paraplegia.

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Alström Syndrome: Inherited syndrome with progressive visual and hearing loss, diabetes mellitus, and cardiac, hepatic, and renal involvement.

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Rubinstein-Taybi Syndrome: Most often occurs sporadically and less often autosomal dominantly inherited. Characterized by broad thumbs and halluces and dysmorphic facies. Mental and physical development delayed. Cardiac, vertebral, and other anomalies.

Verloes A, Temple IK, Bonnet S, et al: Coloboma, mental retardation, hypogonadism, and obesity: Critical review of the so-called Biemond syndrome type 2, updated nosology, and delineation of three “new” syndromes. Am J Med Genet 69:370, 1997.  [PubMed: 9098485]

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