Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the familial occurrence of the G syndrome of multiple congenital anomalies affecting a mother and her three sons. All showed the characteristic syndromal facies, a low total ridge count, pronounced hypertelorism, and mild mental retardation, and severe dysphagia in infancy which improved with age but persisted in the boys (it has disappeared in the mother). One of the boys had a left cleft lip and cleft palate, another had a unilateral cleft lip. All boys had hypospadias: penile in two (with descended testes) and perineal in another (with cryptorchidism). Familial occurrence in this family is compatible with autosomal dominant inheritance.
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PMID:Familial occurrence of the g syndrome. 113 93

The causes of dysphagia in childhood are variable. The swallowing mechanism may be influenced by a cleft palate, choanal atresia or tumors of the tongue. The causes related to the esophagus are especially based on malformations and complications following their treatment. In infancy, blockage of the esophagus with foreign bodies or scar tissue secondary to lye--or acid ingestion are most significant. Gastro-esophageal reflux is the leading cause for regurgitation and esophagitis in the lower esophagus. Occasionally, increased intracranial pressure causes dysphagia. Finally, a normal swallowing mechanism can be lost if it is not continuously practiced (parenteral nutrition, esophageal diversion). The variable spectrum of cause for dysphagia makes precise investigation and specific treatment mandatory.
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PMID:[Dysphagia in childhood]. 204 20

Experience from the use of feeding plates for babies with cleft palate and from the treatment of dysphagia in patients recovering from stroke led to the design of a simple intraoral appliance. This device has been used successfully in treating twelve babies with feeding difficulties caused by incoordination, when other methods had failed.
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PMID:A new way to treat sucking and swallowing difficulties in babies. 287 22

Three families including five subjects with the G or Opitz-Frias syndrome are added to 23 published cases who had dysphagia; characteristics of the two affected relatives were added to 19 well documented published reports. The data from index cases support the concept of the G syndrome as a constellation of midline defects, which include hypertelorism or telecanthus (89%), oesophageal dysmotility (69%), laryngotracheal clefts (44%), cleft palate or bifid uvula (34%), heart defects (29%), hypospadias (100% of males), renal or ureteral anomalies (42%), and mental retardation (38%). Affected relatives, often identified by hypertelorism, dysphagia, or hypospadias, had a much lower incidence of associated defects and mental retardation. They provide a more rounded but still biased view of a syndrome compatible with normal intelligence and life span. The data do not support a highly characteristic face in the G syndrome, which discriminates it from the phenotypically similar BBB syndrome. The variable expressivity and five cases of male to male transmission observed in 18 families are consistent with autosomal dominant inheritance. Vigilance for the morphological characteristics of G syndrome in patients with dysphagia is underscored by the potential for normal development with appropriate intervention.
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PMID:Further delineation of the G syndrome: a manageable genetic cause of infantile dysphagia. 335 1

In some cases of extensive palatal defects surgical closure may be regarded as unfeasible, and the condition treated with an obturator prosthesis. In such a case the cleft can be closed in one operation by means of a pharyngeal flap elongated through a pharyngotomy according to Bengt Johanson (1966). Eleven patients who had used obturators were operated on between 1957 and 1978. The mean age of the patients was 39 years. All patients were cleft lip and palate or cleft palate cases; two unilateral, five bilateral, and four with an isolated cleft palate. In most of these patients a temporary tracheostomy was performed after which the pharynx was opened through a neck incision. A flap was created which reached the alveolar ridge. For oral closure, mucoperiosteal flaps were used. Anterior palatal fistulas developed in two cases; one closed spontaneously and the other remained as a 3-mm fistula behind the alveolar ridge. Three patients had postoperative transient dysphagia. Phoniatric evaluation showed that two patients had better speech after operation than before with an obturator. Gross speech improvement at this late age should not be expected and is not the primary goal of the procedure. The aim of surgical closure with an elongated pharyngeal flap is to replace the obturator.
Cleft Palate J 1986 Jan
PMID:Elongated pharyngeal flap in extensive clefts of the hard and soft palate. 345 2

The nevus sebaceus of Jadassohn (SNJ) is a congenitally-occurring, hamartomatous disorder of the skin and its adnexa of infrequent occurrence. This presentation of five cases emphasizes the smooth, waxy, yellow-brown lesion's progression into a thickened sebaceous tumor of premalignant predilection. The incidence of neoplastic degeneration of these hamartomatous nevi may be as high as 30% with the capacity of metastasis occasionally reported. Because of malignancy risks as well as cosmetic considerations, early surgical removal is recommended. Previously unreported problems of dysphagia and malnutrition secondary to pulsion diverticulum at the esophageal inlet and cleft palate, obliterative aural stenosis with associated conductive hearing loss are documented. Regardless of SNJ's occurrence as either an isolated lesion or as the fully developed syndrome, including mental retardation and epilepsy, this congenital malformation of the skin, its hair, and sebaceous glands presents rare and histologically intriguing problems for the practitioner.
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PMID:Nevus sebaceus of Jadassohn: the head and neck manifestations. 361 88

A nonorganic pattern of maladaptive eating behavior was identified and diagnosed as conditioned dysphagia in a group of 28 children who had successfully completed pharyngeal flap surgery for correction of hypernasality. The physically intrusive diagnostic and surgical procedures are thought to contribute to the acquisition of a conditioned avoidance response to deglutition that is resistant to extinction but reversible after deconditioning therapy. Comparison with 22 matched normal siblings and 25 normal control children identified conditioned dysphagia as occurring in about 40% of the cleft palate children within 1 year after surgery. Characteristic eating problems included slowness, requiring assistance, eating only small pieces of solid foods, and not finishing meals. Early detection, treatment, and preventive measures are suggested at or about the time of surgery to avoid consequent nutritional deficits and, in some severe cases, a threat to survival if untreated.
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PMID:Conditioned dysphagia in cleft palate children after pharyngeal flap surgery. 713 63

The whistling face syndrome has been reported, with complications of the respiratory system and feeding problems due to microstomia, since 1938. Dysphagia, however, has not previously been reported as a complication of whistling face syndrome. We report a 13-year-old with the whistling face syndrome and dysphagia of late onset who has the typical whistling face, scoliosis and multiple joint contractures. Dysphagia occurred as a result of compression at the cervicomedullary junction by a cranio-vertebral junction malformation and impingement by the tip of the odontoid process. This child had undergone multiple surgical procedures for cleft palate, clubfeet, contractures of the hip and knee and scoliosis. Halo traction and posterior occipital-cervical decompression and fusion successfully treated the dysphagia.
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PMID:Freeman-Sheldon syndrome (whistling face syndrome) and cranio-vertebral junction malformation producing dysphagia and weight loss. 893 72

A female newborn presented with a huge mass protruding from the mouth. She had no respiratory distress but had difficulty swallowing. The mass originated from the tongue and was completely extirpated on the day of birth. The histologic diagnosis was mature teratoma. Three days later, another mass measuring 1 cm in diameter was found attached to the upper pharyngeal wall and was also completely extirpated 20 days after birth. The histologic diagnosis was also mature teratoma. The infant had a complete cleft palate, but no other malformation was found. Two years after surgery there is no sign of recurrence.
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PMID:Teratoma of the tongue in neonates: report of a case and review of the literature. 988 Jul 3

Swallowing disorders in oral and pharyngeal phase after surgery of mouth, pharynx or larynx are very often interrelated with speech and voice disorders. The results of diagnostic methods of dysphagia and voice/speech disorders based on own material of patients after total laryngectomy, partial tongue resection and cleft palate surgery were presented. Attention was also paid to other etiological factors of swallowing disorders observed in phoniatric practice.
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PMID:[Dysphagia and speech disorders]. 1039 Oct 42


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