Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030552 (paresis)
 5,831 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The first case of Goldenhar's syndrome, oculo-auricular dysplasia, found in Bantu, is described. Besides the usual eye and ear manifestations a facial paresis at both sides was found. There were no signs of vertebral anomalies on X-rays. The use of a hearing aid showed that the apparent mental retardation was of a secondary nature, due to the hearing loss. The mother had not been ill in the first trimester of pregnancy and had not used any medicine.
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PMID:Goldenhar's syndrome, oculo-auricular malformation, in a Bantu girl. 56 29

Endoscopy of the upper airways in neonates and infants was traditionally been accomplished using rigid laryngoscopes and bronchoscopes. The laryngeal mask may be used both to control the airway for anaesthetic ventilation and to guide a fibre-optic endoscope to the laryngeal inlet and beyond. We report our experience with five neonatal and paediatric cases where fibre-optic laryngoscopy and bronchoscopy were performed through the laryngeal mask airway. All were cases in which standard rigid endoscopy had proved difficult with only a poor and restricted view of the laryngeal inlet being obtained due to the age of the infants, or abnormal anatomy of the upper airways. No problems have been encountered with maintenance of the airway or with endoscopic view obtained. In fact in neonatal patients, this technique has been found to be preferable with regard to safety and ease of use when compared to the ventilating bronchoscope. With the size 1 laryngeal mask airway it is not possible to simultaneously ventilate and endoscope the patient. Cases included, a vascular ring, Goldenhar's syndrome, laryngomalacia, supraglottis and vocal fold paresis. This technique provides a secure method of maintaining anaesthetic ventilation during airway endoscopy, and also a means of easily locating the glottis.
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PMID:Neonatal and paediatric fibre-optic laryngoscopy and bronchoscopy using the laryngeal mask airway. 917 17

Congenital clefts and other malformations of the atlas are incidental findings identified while investigating the cervical spine following trauma. A persistent bifid anterior and posterior arch of the atlas beyond the age of 3-4 years is observed in skeletal dysplasias, Goldenhar syndrome, Conradi syndrome, and Down's syndrome. There is a high incidence of both anterior and posterior spina bifida of the atlas in patients with metabolic disorders, such as Morquio's syndrome [Baraitser and Winter in London dysmorphology database, Oxford University Press, 2005; Torriani, Lourenco in Rev Hosp Clin Fac Med Sao Paulo 53: 73-76, 2002]. We report two siblings and their mother, with congenital, persistent torticollis, plagiocephaly, facial asymmetry, grooved tongues, and asymptomatic "dolicho-odontoid process". All are of normal intelligence. No associated Neurological dysfunction, paresis, apnoea, or failures to thrive were encountered. Radiographs of the cervical spine were non-contributory, but 3D CT scanning of this area allowed further visualisation of the cervico-cranial malformation complex in this family and might possibly explain the sudden early juvenile mortality. Agenesis of the posterior arch of the atlas and bifidity/clefting of anterior arch of the atlas associated with asymptomatic "dolicho-odontoid process" were the hallmark in the proband and his female sibling. Some of the features were present in the mother. All the family subjects were investigated. To the best of our knowledge the constellation of malformation complex in this family has not been previously reported.
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PMID:Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects. 1724 65