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

Three males with similar malformations including hypertelorism, telecanthus, cleft lip and palate, and hypospadias, have been evaluated. One also had a laryngotracheoesophageal cleft and therefore was considered to have the G syndrome. The other two had no stridor, aspiration, or difficulty swallowing, and were considered to have the BBB syndrome. Both disorders are associated with multiple malformations and can be most readily distinguished by the presence of laryngoesophageal abnormalities in the G syndrome and differences in facial features evident later in childhood. The BBB syndrome appears to be inherited as an X-linked disorder with the affected female showing only telecanthus and hypertelorism. The G syndrome exhibits autosomal dominant inheritance with males more severely affected, although a few few females have had serious malformations in addition to telecanthus and hypertelorism. In the family with the G syndrome evaluated for this report, the mother of the affected infant had telecanthus, hypertelorism, and anosmia, the latter a feature not previously noted in this disorder.
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PMID:Phenotypic overlap of the BBB and G syndromes. 26 34

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 G syndrome is a multiple congenital anomaly (MCA) syndrome of hypertelorism, hypospadias, stridor, and swallowing difficulties. Cleft lip and palate, cardiac defects, cranial asymmetry, and bowel obstruction are occasional manifestations. Family data suggest autosomal dominant inheritance. Males appear to have more serious manifestations, whereas most females with the G syndrome have a benign course and are ascertained through affected male relatives. In the family reported here, the proposita was first seen at age 7 weeks because of swallowing difficulties, stridor, and unusual facial appearance, reminiscent of the G syndrome. Evaluation of the family showed striking facial changes in her father and all four of his sibs. These five individuals had megalencephaly, hypertelorism, and a broad prominent nasal root and bridge, reminiscent of the facial appearance in the BBB syndrome. There was no evidence for dysphagia, respiratory abnormality, or hoarse voice in any other relative. These individuals with the G syndrome display two unusual manifestations. There are no males with hypospadias; the proposita has the most severe laryngotracheoesophageal symptoms. Although hypospadias is not an invariable manifestation of the G syndrome and although six females with severe dysphagia or respiratory abnormalities have been reported previously, the manifestations in this family underline the variability of this condition and provide further support that the G syndrome can be expressed with equal severity in both males and females. Although phenotypic overlap between the BBB and G syndromes has long been recognized, many still consider them to be distinct nosologic entities. The occurrence of both BBB and G syndrome in different members of the same family has been observed previously.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:G syndrome: an unusual family. 322 42

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

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

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