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

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).

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.

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

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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