A congenital syndrome combining dwarfism and ocular,
cerebral, and renal symptoms. Lethal in infancy.
A single case of a boy has been
reported. Pattern of genetic inheritance is undetermined.
Intrauterine and severe postnatal growth
retardation are associated with multiple other symptoms involving the head
and neck (microcephaly, congenital optic atrophy, nystagmus, flattened nose,
thin lips), the central nervous system (dilated cerebral ventricles,
electroencephalographic abnormalities with intractable seizures,
porencephaly/schizencephaly, profound mental retardation, hyperreflexia),
the skeleton (skeletal dysplasia with short rib cage, abnormalities of the
pelvis and vertebrae), and the limbs (rhizomelic micromelia, short feet with
brachydactyly). The patient also had renal failure that resulted in early
Anesthesia in this condition has not
been described. Patients are prone to seizures and would therefore most likely receive antiepileptic therapy. Consider interaction and altered metabolism
of anesthetic drugs secondary to chronic antiseizure drug therapy. Renal
failure has implications for fluid and electrolyte balance and the excretion
of some anesthetic agents. Intraoperative positioning might be challenging.
Mental retardation might impair cooperation. Sedative and/or anxiolytic
premedication and the presence of the primary caregiver during induction of
anesthesia might be helpful.
Cephaloskeletal Dysplasia: A brachymelic primordial disproportionate
dwarfism associated with facial dysmorphism and neurologic impairment.
Silengo MC, Lerone M, Pelizza A, et al: A new syndrome with
cerebro-oculo-skeletal-renal involvement. Pediatr Radiol