PubMed · 8773878
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R M Meyer. 1996. Augustine guide.. https://doi.org/10.1007/bf03011786
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A male neonate with tricho-rhino-phalangeal syndrome type II (Langer-Giedion syndrome) and interstitial deletion of chromosome 8 with karyotype 46, XY, del (8) (q24.11-->q24.13) is reported. In addition to hypotrichosis of the scalp hair, abnormally bulbous nose and redundant skin, which are usually found in this syndrome, aplasia of the epiglottis and non-Finnish type congenital nephrotic syndrome were also present. He died of renal failure and respiratory failure at 11 days of age. Electron microscopy of renal necropsy showed foot process loss, focal thickening and splitting of the glomerular basement membrane and mesangial expansion. These have never been reported and could be new associations in this disease that may serve to support the concept of contiguous gene syndrome in patients with tricho-rhino-phalangeal syndrome.
Large benign tumours in the aperture of the larynx are uncommon, and they are especially rare on the epiglottis. They are, however, important as they may cause fatal airway obstruction particularly at induction of general anaesthesia. We present a patient with a large lipoma originating in the vallecula epiglottica and the lingual surface of the epiglottis. The difficulties involved in tracheal intubation and possible solutions are discussed. In this case intubation was performed under local anaesthesia with the patient fully awake. A commissure laryngoscope was used for visualisation of the laryngeal inlet and a flexible bougie was inserted into the trachea. After removal of the laryngoscope a 7 mm ID endotracheal tube was advanced over the bougie into the trachea. After securing the airway in this way general anaesthesia was induced and the table tennis ball sized lipoma was uneventfully removed.
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