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Very rare disorder characterized by severe digital, renal, and cerebral malformations.

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Eronen Somer Gustafsson Syndrome; Digitorenocerebral (DRC) Syndrome.

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Unknown. Fewer than a dozen case reports since its first description by Eronen in 1985.

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Autosomal recessive with variable clinical expression.

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Unknown.

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Mainly based on clinical features, neurologic studies (CT and/or MRI scan of the brain, electroencephalogram, auditory and brainstem evoked potentials), urologic imaging (ultrasonography examination, intravenous pyelogram), and radiographs of the hands and feet.

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Absent distal phalanges with dysplastic or absent nails of all fingers and toes are a constant feature of this syndrome and result in brachydactyly. Renal manifestations are variable and may include unilateral agenesis, cystic dysplasia, or double kidney with two ureters and two renal arteries. Facial features are a high and sloping forehead, wide nasal bridge, short nose with full tip and wide base, low-set ears, high arched palate, and gingival hyperplasia. Neurologic manifestations are variable but always severe: microcephaly, cerebral atrophy, dilated cerebral ventricles, Dandy-Walker malformation, severe seizures, muscular hypotonia, and blindness with optic nerve atrophy. Respiratory distress, heart murmurs, and cyanosis have been described in some patients, with further examination leading to the diagnosis of atelectases, patent ductus arteriosus, small ventriculoseptal defect, or open foramen ovale. Profound mental retardation is a permanent feature. The majority of patients die in infancy, with very few surviving beyond age 2 years. Increased levels of plasma and urinary 2-oxoglutarate are common findings.

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Obtain full assessment of the neurologic status and check for the presence of increased intracranial pressure. Evaluate the efficacy and eventual toxicity of antiepileptic treatment and the degree of muscular hypotonia. Renal function is usually adequate, but blood electrolytes and creatinine levels should be obtained.

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Because of the high arched palate and gingival hypertrophy, intubation may be challenging. The increased risk of aspiration warrants a rapid-sequence induction. In the presence of hypotonia, avoidance of succinylcholine (because of potential severe hyperkalemia) is recommended. Instead, use of a nondepolarizing muscle relaxant with a rapid onset of action is preferred (e.g., rocuronium). In the presence of increased intracranial pressure, intravenous lidocaine on induction may help decrease systemic hypertension associated with laryngoscopy. Mild hyperventilation lowers the intracranial pressure, and a 10- to 30-degree head-up position improves cerebral venous drainage.

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In the presence of a seizure disorder, avoid potentially epileptogenic drugs such as methohexital, ketamine, enflurane, atracurium, cis-atracurium, and meperidine (applies to the latter three only if given in large quantities because of their metabolites, laudanosine and normeperidine, respectively). Cautious titration of nondepolarizing muscle relaxants (under control of nerve stimulator) is required in the presence of muscular hypotonia (increased sensitivity to their effects). If renal function is decreased, adjustment of drugs with predominantly renal elimination (e.g., some muscle relaxants and antibiotics) may be required.

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Brachymorphism-Onychodysplasia-Dysphalangism Syndrome: Presumed genetic disorder causing short stature, hand abnormalities, and mild ...

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