A congenital syndrome combining dwarfism and ocular, cerebral, and renal symptoms. It is lethal in infancy.
A single case of a boy has been reported.
The pattern of genetic inheritance has not been determined.
Entirely based on the clinical findings.
Intrauterine and severe postnatal growth retardation were associated with multiple other symptoms involving the head and neck (severe microcephaly with patent sutures, proptosis, congenital optic atrophy, nystagmus, depressed nasal bridge, flattened nose, moderate tongue protrusion without macroglossia, poorly defined philtrum, and thin upper lip), the central nervous system (dilated cerebral ventricles, porencephaly/schizencephaly, electroencephalographic abnormalities with intractable seizures, hyperreflexia, profound mental retardation, and continuous opisthotonic arching), the skeleton (skeletal dysplasia with short rib cage and abnormal, elongated clavicles and cupping of the costal ends, platyspondyly, and abnormalities of the pelvis), and the limbs (rhizomelic micromelia, and severe brachydactyly with markedly shortened and abnormal metacarpals, metatarsals, and phalanges). The patient died from renal failure of unknown etiology at the age of 5 months. The spine shows minimal platyspondyly and tongue-like projection of the anterior aspects of the lumbar vertebrae.
Precautions before anesthesia
Check for signs of difficult airway management, but the facial dysmorphism appears relatively mild. Obtain a history of the seizure activity and efficacy of the treatment, which may need to be optimized before elective surgery. Preoperative blood work should include a complete blood count (renal anemia), serum electrolytes, creatinine and urea. Developmental delay may cause agitation and stress in the perioperative period, thus anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial. Anticonvulsant therapy should be continued until the morning of surgery and resumed as soon as possible postoperatively and given intravenously if oral intake is not possible.
Anesthesia in this condition has not been described. Patients are prone to seizures and would therefore most likely receive antiepileptic therapy. Renal failure has implications for fluid and electrolyte balance and the excretion of some anesthetic agents. Careful perioperative handling, positioning, and padding are required to avoid pressure sores and/or nerve injury.
Avoid epileptogenic drugs (eg, meperidine/pethidine) or drugs that decrease the seizure threshold in patients with seizures. Chronic anti-seizure treatment may interfere with the metabolism and elimination of other drugs that share the same metabolic pathways. Drugs with predominantly renal elimination should be avoided in the presence of renal insufficiency or their dose adjusted accordingly. Potentially nephrotoxic drugs and nonsteroidal anti-inflammatory drugs should be avoided.
Other condition to be ...