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
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
Wong SC, Cobben JM, Hiemstra S, et al: Karsch-Neugebauer syndrome in two sibs with
unaffected parents. Am J Med Genet