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)

In 1969, Opitz et al. reported the first case of G Syndrome (Opitz-Frias Syndrome). They presented their clinical observations on 4 brothers from the 'G Family' who shared a constellation of findings with a generalised tendency to midline defects. Major manifestations of this multiple congenital anomaly syndrome include hypertelorism, prominent forehead, cleft lip and palate, narrow palpebral fissures with epicanthal folds, dysphagia, stridor, laryngotracheal oesophageal clefts, and hypospadias. The most significant manifestation of a midline field developmental defect in these infants is aspiration which poses the greatest threat to life. Urgent evaluation should include a water-soluble contrast oesophagram and aerodigestive endoscopy. In addition to repair of the laryngeal cleft, which occurs in approximately 30% of the cases, a tracheostomy, feeding gastrostomy, and Nissen fundoplication are often needed. We report a male infant born with G. syndrome. BBB Syndrome (Opitz Syndrome) is also discussed which bears a striking resemblance to the G Syndrome; in fact, they may be variants of the same allelic syndrome.
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PMID:G syndrome: a review of the literature and a case report. 156 17

Non-immunological fetal hydrops diagnosed prenatally presents a difficult diagnostic and therapeutic problem. In the case presented, fetal hydrops was recognized at 19 weeks gestation and no specific cause was found prenatally in spite of extensive investigations. The fetal hydrops was treated in utero by thoracocentesis and an intravenous infusion of albumin carried out at fetoscopy. After birth the infant was recognized to have the hypertelorism-dysphagia syndrome (or Opitz-G syndrome, McK no. 30710). This autosomal dominant syndrome consists of hypertelorism, laryngeal abnormalities, swallowing difficulties, hyprospadias and an imperforate anus. Fetal hydrops has been reported on one previous occasion in this syndrome. The intrauterine treatment given in this case may have been successful in reducing the neonatal complications of the Opitz-G syndrome.
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PMID:Prenatal treatment of fetal hydrops associated with the hypertelorism-dysphagia syndrome (Opitz-G syndrome). 351 43

Congenital alacrima is an autosomal dominant disorder showing markedly deficient lacrimation and punctate corneal epithelial erosions. The G (Opitz-Frias) syndrome is also an autosomal dominant disorder characterised by hypertelorism, hypospadias, stridor, and dysphagia. Here we report a 5-year-old boy with the G syndrome presenting congenital alacrima.
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PMID:Congenital alacrima in a patient with G (Opitz Frias) syndrome. 883 59

Opitz G/BBB syndrome (OS) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and cardiac defects. The X-linked form is caused by mutations in the MID1 gene, while no gene has yet been identified for the autosomal dominant form. Here, we report on a 15-year-old boy who was referred for MID1 mutation analysis with findings typical of OS, including apparent hypertelorism, hypospadias, a history of feeding difficulties, dysphagia secondary to esophageal arteria lusoria, growth retardation and developmental delay. No MID1 mutation was found, but subsequent sub-megabase resolution array CGH unexpectedly documented a 2.34 Mb terminal 4p deletion, suggesting a diagnosis of WHS, and a duplication in Xp22.31. Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome involving terminal chromosome 4p deletions, in particular 4p16.3. WHS is characterized by typical facial appearance ("Greek helmet facies"), mental retardation, congenital hypotonia, and growth retardation. While the severity of developmental delay in this patient supports the diagnosis of WHS rather than OS, this case illustrates the striking similarities of clinical findings in seemingly unrelated syndromes, suggesting common or interacting pathways at the molecular and pathogenetic level. This is the first report of arteria lusoria (esophageal vascular ring) in a patient with WHS.
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PMID:Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome. 1807 89

Opitz G/BBB syndrome is a congenital disorder characterized by midline defects, such as hypertelorism, cleft lip and/or palate, hypospadias, and by dysphagia often caused by laryngo-tracheo-esophageal abnormalities. We experienced a case of polyhydramnios in a male dichorionic diamniotic (DD) twin, who was diagnosed with Opitz G/BBB syndrome after birth. It is suggested that severe dysphagia was causatively associated with the development of polyhydramnios. In cases of Opitz G/BBB syndrome, boys are usually more heavily affected than girls, who generally manifest only hypertelorism. In the differential diagnosis of polyhydramnios of unidentified cause in male fetuses, it may be helpful to consider maternal facial characteristics, especially hypertelorism.
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PMID:Case of polyhydramnios complicated by Opitz G/BBB syndrome. 2066 62

A closed-ended intensive pediatric swallowing telepractice program was developed and piloted in one pediatric patient with Opitz BBB/G and Asperger's Syndromes, oropharyngeal dysphagia and aerophagia. The present study is a case report. Outcome variables included behavioral, swallowing and quality of life variables, and were assessed at baseline and at the end of the four-week program. Selective variables were also assessed at a follow-up family interview four weeks post program completion. Over the four-week intervention period, the patient demonstrated substantial improvements in: oral acceptance of eating-related objects and a variety of foods (behavioral variable), timing of voluntary saliva swallows and aerophagia levels (swallowing variables) and quality of life. Follow-up interview analysis showed that most skills were retained or improved one-month post intervention. This intensive telepractice program proved to be feasible and effective for this pediatric patient with dysphagia.
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PMID:Telepractice for pediatric Dysphagia: a case study. 2594 17

Opitz G/BBB syndrome is a genetic condition characterized by several abnormalities along the midline of the body, such as hypertelorism, craniofacial deformities, and dysphagia. This study reports the clinical features of Optiz syndrome and its importance in the knowledge of patients who are developmentally challenged as a whole, in order to establish adequate dental treatment for a certain clinical case. A 19-year-old patient visited the Paulista University for a dental treatment. The extraoral examination revealed ocular hypertelorism (wide-spaced eyes), oblique eyelids, epicanthus, low-set cart, and intellectual disability. During the intraoral examination, large caries lesions were observed surrounding the braces of the fixed orthodontic appliance and poor oral hygiene. Preventive and restorative treatments were carried out. It was concluded that the knowledge of patients with special needs as a whole is mandatory for an adequate dental treatment. This is a case report that highlights the importance of dentist and interdisciplinary care attendance for all patient systems, the examination and analyses should not be restricted to the oral cavity.
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PMID:Dental treatment of a patient with Opitz G/BBB syndrome. 2764 52