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An inherited syndrome with mental deficiency and endocrine disorder.

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Börjeson Syndrome.

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First described in 1962 by M. Börjeson, H. Forssman, and J. O. Lehmann.

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Transmitted as an X-linked recessive trait, thus, predominantly males are affected, although heterozygous female carriers may manifest certain, although much more variable, features of the disease (suggesting X-linked incomplete recessive inheritance). Gene map locus is Xq26-q27. The mutations seem to affect the PHF6 gene (plant homeodomain zinc-finger transcription factor gene), which is involved in DNA-transcription.

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Based on the clinical appearance. Characteristic facial appearance (round, fatty face with large, protruding tongue, large but normally formed ears, relative microcephaly, prominent brow ridge, deep-set eyes, ptosis) associated with mental retardation and epileptic attacks. No known biochemical or cytogenetic markers.

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Mild-to-severe intellectual handicap, epilepsy, hypogonadism (hypogonadotropic hypogonadism with delayed second-degree sexual characteristics), hypometabolism, marked obesity, swelling of subcutaneous facial tissue, short neck, short stature and narrow palpebral fissure. Hyperkyphosis that increases with age was reported.

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The patient's history should be evaluated in relation to seizures, current anticonvulsant therapy, and complications resulting from the therapy in particular. Plasma anticonvulsant levels may require determination and the dose optimized to ensure adequate levels. Marked obesity necessitates systematic review of associated cardiovascular and respiratory diseases. The airway should be assessed because difficulty in direct laryngoscopy is not uncommon in these patients. Cardiac function should be evaluated carefully, as one case of a 19-year-old patient who presented for heart transplantation secondary to dilated cardiomyopathy was reported. Cardiac function should be assessed in the presence of morbid obesity (to exclude pulmonary hypertension) and hypometabolism with electrocardiogram, chest radiography, echocardiography, and, if necessary, radionuclide imaging. Carefully evaluate respiratory function in the presence of hyperkyphosis (including lung function tests). H2-antagonist therapy may be indicated to reduce the risk of pulmonary aspiration. Premedication with respiratory depressant drugs should be avoided in morbidly obese patients. Recommended laboratory investigations include complete blood count, electrolytes, arterial blood gas analysis, urea, and occasionally anticonvulsant plasma levels.

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Difficult cooperation as a result of mental retardation is possible. Marked obesity makes vascular access difficult and desaturation on induction more likely than in nonobese patients. Adequate preoxygenation should be given prior to induction of anesthesia. In the morbidly obese in whom difficult tracheal intubation is anticipated, direct laryngoscopy under topical anesthesia may be helpful. If the larynx is visualized, a rapid sequence induction should be performed to prevent desaturation and minimize risk of pulmonary aspiration. If the larynx cannot be visualized, an awake fiberoptic tracheal intubation is the safest approach. Mechanical ventilation is preferred over spontaneous breathing as tidal volume breathing falls within the closing volume range and commonly results in hypoxemia. A regional anesthesia technique, such as spinal or epidural anesthesia, requires reduced doses of local anesthetics (75-80% of regular dose). Continuous oxygen therapy, physiotherapy, and deep venous thrombosis prophylaxis with early mobilization (if possible) are required in the ...

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