Hypertension and medullary sponge kidneys in an adolescent with Beckwith-Wiedemann syndrome.
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The diagnosis of Beckwith-Wiedemann syndrome may be missed because of variable or incomplete clinical expression. Recognition of such patients is important, however, because they have the potential for development of neoplasia. It seems likely that BWS and the congenital asymmetry-abdominal malignancy syndrome are at either end of the same spectrum, and that intermediate forms are the connecting links.
A significant number of children with the Beckwith-Wiedemann syndrome are prone to the development of nephroblastomas and adrenal carcinomas. Renomegaly, a prolonged tubular blush on excretory urography similar to that of medullary sponge kidney, and previously undescribed caliceal diverticula may be observed. Diligent followup is mandatory to detect early neoplasia. Suggestions are detailed based on reported case management.
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This paper deals with the extension of the tongue flap technique for reconstruction of deficient perioral structures in a case of Möbius syndrome. Some important surgical considerations, such as the vascularisation of the tongue, design of the flap, location of the flap base etc, are discussed and the operative procedures and the result are demonstrated.
In case of severe mandibular prognathism with open bite requiring more than 15 mm of mandibular posterior repositioning, it is said that the sagittal splitting methods (Obwegeser I method (1955, 1957) and Obwegeser-Dal Pont (1958) method) are not indicated. In our two cases manifesting severe mandibular prognathism with open bite we performed the Obwegeser II (1964) method. In one of these case we performed partial tongue resection to prevent postoperative relapse. The desired results with regards to facial appearance and occlusion were achieved in both cases.
A 16-year-old boy developed symptoms of acute upper airway compromise after chlorpromazine ingestion. The patient took six 100-mg Thorazine tablets "to help him sleep". Laryngeal-pharyngeal dystonia is a life-threatening form of dystonic reaction that is dose-dependent. In children, acute upper airway compromise should raise the suspicion of exposure to phenothiazines.
Lymphangioma of the tongue is relatively rare and may cause facial structural deformity. Using a combination of a V-shaped and central resection, we successfully treated a 6-year-old girl who had massive lymphangioma of the tongue. Postoperatively, her tongue was located completely within her mouth with good cosmetic results. Sensory and motor nerves to the tongue appeared to be intact. Her speech was also improved.
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Hemifacial hypertrophy is an uncommon developmental disorder characterized by facial asymmetry that involves abnormal bone development and facial enlargement. Many cases of hemihypertrophy have been reported since the first case was reported by Wagner in 1839. We identified a child diagnosed with hemifacial hypertrophy and sensorineural hearing loss who presented with upper airway obstruction and cyanosis. We discuss treatment selection and review the associated head and neck symptoms.
One monkey among several normal cohorts developed an openbite and a bizarre feeding pattern. Both disappeared spontaneously following a medial partial glossectomy.
Pressures from the tongue on the teeth were recorded in 21 children and adolescents before and after surgical reduction of the tongue. The recordings were made before surgery, and 6 and 12 months after the operation. Simultaneous measurements were made at the lingual surfaces of the maxillary and mandibular central incisors and at the left first molar, in the rest position and during chewing and swallowing. The method had been used in a previous study of normal cases, which served as a reference. Presurgical pressures recorded in the rest position at the maxillary incisors agreed with measurements recorded in the same location in the reference sample. Measurements recorded during rest in the other locations were somewhat higher than those of the reference group. Pressures recorded before the surgery during chewing and swallowing varied from similar measurements made in the reference group. At the recording 6 months after surgery, resting pressures at the molars were lower than they had been presurgically. No significant differences were found for pressures during chewing. A lower pressure was recorded in one location during swallowing. At the recordings made 12 months after surgery none of the pressures differed significantly from the presurgical values. Resting pressures were, however, lower than they had been before surgery and were closer to those of the reference sample.
Schinzel-Giedion syndrome comprises multiple congenital anomalies. The orofacial features include coarse facies, frontal bossing, ocular hypertelorism, anterior open bite and macrodontia. Two cases are presented in which the presence of specific craniofacial anomalies with bilateral hydronephrosis confirmed the diagnosis. In one patient, bottle-feeding was associated with caries in maxillary central and lateral incisors, but the second patient was permanently tube fed and did not experience any dental caries. Clinical management of these patients requires a coordinated approach from a team of medical and dental specialists.
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