Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Clinical description of a 12-year-old girl with a number of congenital abnormalities including retarded growth and an asymmetric facies. All the clinical features observed are compatible with the CHARGE association. Ocular anomalies are important bilateral colobomata associated with nystagmus and strabismus. Three among four of the lacrymal canaliculi are missing. This anomaly has not yet been described in the CHARGE syndrome. The discussion refers to all the clinical observations especially the ophthalmological features.
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PMID:[Association of the CHARGE syndrome and imperforation of the lacrymal ducts]. 213 26

CHARGE association includes patients with at least four features prefixed by the letters of the mnemonic: Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies and/or hearing loss. Many also have facial palsy. We report a series identified by collaboration within one centre of all specialties concerned in the management of the CHARGE association. Ocular abnormalities were found in 44 out of 50 patients with the CHARGE association. Of these, 41 had 'typical' colobomata. The majority had retinochoroidal colobomata with optic nerve involvement, but only 13 patients had an iris defect. Two patients had atypical iris colobomata with normal fundi. Additional features were microphthalmos in 21 patients, optic nerve hypoplasia in four, nystagmus in 12, and a vertical disorder of eye movement in four of the 22 cases with facial palsy. We report an incidence of coloboma in the CHARGE association of 86% (43/50) compared with a previous cumulative reported incidence of 66% (112/170). We believe that there may have been previous underdiagnosis of colobomata in children with multiple congenital abnormalities.
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PMID:The eye in the CHARGE association. 237 57

Six cases of the CHARGE association are described that were encountered consecutively at an institute for the deaf. Five of them showed external ear anomalies and according to expectations all of them showed some degree of hearing impairment: two had moderate mixed hearing loss; three had severe to profound sensorineural hearing loss; and one was completely deaf. In addition, they all had vestibular areflexia and the five cases examined with computer tomography of the petrosal bones showed aplasia of the semicircular canals. One case with poor visual acuity also showed subnormal optokinetic responses and horizontal pendular nystagmus during visual fixation. All these children were initially diagnosed as having severe psychomotor retardation, because of their failure to acquire speech and their delayed motor skill development. Given the fact that (mild) mental retardation was found in only one case, the delayed development could at least in part have been caused by vestibular areflexia. The vestibular findings support previously reported temporal bone findings that indicate dysplasia or aplasia of the superior part of the labyrinth. Early detection of the full extent of (multiple) sensory deficits is necessary in children with the CHARGE association who have similar abnormalities, because aggressive intervention and special educational support are likely to be of great benefit to sensorimotor development.
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PMID:Vestibular areflexia as a cause of delayed motor skill development in children with the CHARGE association. 915 48