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Inherited polymalformative syndrome characterized by the presence of split-hand syndrome and nystagmus.

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A total of 15 cases have been reported in the literature. Autosomal dominant transmission, although some cases appear to occur as a consequence of gonadal mosaicism (unaffected parents giving rise to affected children).

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Ocular signs include undulatory nystagmus, retinopathy, ocular muscle paresis, and, in some cases, cataracts. Classic split-hand/split-foot abnormality (ectrodactyly or lobster claw deformity), (occasionally with an articulating “cross bone”) and monodactyly.

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No significant anesthetic concerns directly associated with this medical condition. Peripheral vascular access may be challenging given the anatomical anomalies.

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Pilarski RT, Pauli RM, Bresnick GH, et al: Karsch-Neugebauer syndrome: Split-foot/split-hand and congenital nystagmus. Clin Genet 27:97, 1985.  [PubMed: 3978843]
Wong SC, Cobben JM, Hiemstra S, et al: Karsch-Neugebauer syndrome in two sibs with unaffected parents. Am J Med Genet 75:207, 1998.  [PubMed: 9450888]

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