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A congenital syndrome combining dwarfism and ocular, cerebral, and renal symptoms. Lethal in infancy.

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Silengo-Lerone-Pelizza Syndrome.

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A single case of a boy has been reported. Pattern of genetic inheritance is undetermined.

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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 death.

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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.

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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 20:612, 1990.  [PubMed: 2251013]

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