++
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]