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)

Septo-optical dysplasia and Optic nerve hypoplasia often are combined with pendular nystagmus in the horizontal, vertikal or rotatory direction. Our patient, 26 year old, showing discret neurological symptoms, added the nystagmus giratoire, perhaps similar to see-saw-nystagmus: Vision was about 0.2. Nystagmus and the whole state did not change within 6 years. The nystagmus was influenced by drugs. There was found also an aplasia of the fovea zentralis. Pneumencephalography revealed in the midline a dilatated single ventricle; the septum pellucidum was absent. Te X-rays of the atlantooccipital axis showed a foramen arcuale atlantis.
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PMID:[Nystagmus giratoire and optic nerve hypoplasia in combination with absence of the septum pellucidum (author's transl)]. 49 38

The familial occurrence of retinal dysplasia in five affected male children suggested X-chromosome-linked recessive inheritance. The clinical features were childhood onset, severe visual impairment, head posture, nystagmus, and strabismus. The ophthalmoscopic findings varied in shape and extension; they ranged from retinal folds to dysplastic tissue covering the posterior pole or gliosis with tumor-like protrusion in the vitreous. The marked variability of the retinal findings was paralleled by the visual acuity, which ranged from some vision to blindness. Electroretinograms coordinated well with ophthalmoscopic observations. Of the five mothers, who are the presumed heterozygous carriers, two showed retinal changes.
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PMID:Primary retinal dysplasia transmitted as X-chromosome-linked recessive disorder. 56 35

Two new cases of the syndrome described by Kaplan, Grumbach and Hoyt are reported. The two children were hypopituitary dwarfs, with congenital nystagmus and small optic discs with double border. Pneumoencephalography showed malformations of the median structures, with trans-sphenoidal encephalocele in one case. The definition of this syndrome and its relation to De Morsier's septooptical dysplasia are briefly discussed.
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PMID:[Hypopituitarism with hypoplasia of the optic nerve (Kaplan, Grumbach and Hoyt syndrome]. 98 32

Septo-optic dysplasia is a syndrome of midline abnormalities of the central nervous system resulting in absence of the septum pellucidum and dysplasia of the optic chiasm or optic nerves. The characteristic fundus findings of small, dysplastic discs and defects in the nerve fiber layer enable the clinician to predict this syndrome prior to contrast studies. An unsual form of nystagmus, see-saw nystagmus, was associated with septo-optic dysplasia in this case report.
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PMID:Septo-optic dysplasia associated with see-saw nystagmus. 111 74

We describe 10 infants with developmental delay and congenital cerebral anomalies who were found to have had in utero exposure to vasoactive drugs. Nine infants had ophthalmological abnormalities; these included strabismus, nystagmus, and/or hypoplastic optic discs. Six mothers used cocaine, one used cocaine and heroin, one used only heroin, one used amphetamine, and one used phenylpropanolamine. Each of these cerebral anomalies (agenesis of the corpus callosum, septo-optic dysplasia, schizencephaly, hydranencephaly, congenital hydrocephalus, porencephaly, and cerebral infarctions) can be attributed to insults at different stages of development. There appears to be a relationship between the time of prenatal drug exposure and the type of cerebral anomaly, evoking malformations, disruptions, or fetal strokes. Since many or possibly all of these anomalies are thought to have a vascular origin, it seems appropriate to implicate prenatal exposure to vasoactive drugs.
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PMID:Brain and ocular abnormalities in infants with in utero exposure to cocaine and other street drugs. 161 Apr 54

We report on an infant male who presented with microcephaly of prenatal onset, schizencephaly, decorticated disturbance of the neurological function, congenital optic atrophy, abnormal eye movements and nystagmus. In addition, he had a skeletal dysplasia with predominant acromelic involvement and a renal disease characterized by both nephritic and nephrotic changes. The natural history of his condition included severe postnatal failure to thrive, lack of development of psychomotor milestones, intractable seizures, terminal renal insufficiency with early death. Such spectrum of phenotypic abnormalities has never been reported before and we suggest that it may represent a new syndromic entity. The differential diagnosis with the oculo-skeletal-renal syndromes, with the osteodysplastic primordial dwarfism of the Taybi-Linder type and with the Hutterite cerebro-osteo-nephrodysplasia, is discussed.
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PMID:A new syndrome with cerebro-oculo-skeletal-renal involvement. 225 Oct 13

A female infant presented with poor feeding, hypotonia, prolonged jaundice, seizure and wandering nystagmus. A case of septo-optic dysplasia was proved by demonstrating the absence of septum pellucidum, small optic discs and hypothalamic-pituitary dysfunction at the age of three months. It is stressed that a diagnosis of septo-optic dysplasia must be entertained in infants who present with prolonged jaundice and hypoglycemia, particularly when rotatory nystagmus is associated.
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PMID:Septo-optic dysplasia: report of a case. 263 88

In 1975, we reported two brothers with epiphyseal dysplasia, microcephaly, and nystagmus; one of them also had mild mental retardation. Here we present information on the natural history, particularly with respect to the development of a new visual problem, namely, retinitis pigmentosa.
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PMID:Epiphyseal dysplasia, microcephaly, nystagmus, and retinitis pigmentosa. 280 68

A male infant with hypertelorism and hypospadias was found to have skeletal changes suggesting metaphyseal dysplasia. Associated findings included congenital nystagmus, hearing impairment, and a complex translocation involving the number 5, 8, and 10 chromosomes. Although some of these abnormalities may be coincidental, they might represent infrequent components of the BBB syndrome. It is just as likely, however, that the syndrome is a new one.
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PMID:Skeletal dysplasia in an infant with hypertelorism, hypospadias, developmental delay, and a complex chromosomal translocation. 362 26

We describe a brother and a sister with a syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia. The parents were normal. This appears to be the second example of the syndrome first described by Lowry and Wood [1975] in two boys who had epiphyseal dysplasia, short stature, microcephaly, and nystagmus; one of these patients was mildly mentally retarded. The Lowry-Wood syndrome probably is an autosomal recessive trait.
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PMID:Syndrome of short stature, microcephaly, mental retardation, and multiple epiphyseal dysplasia--Lowry-Wood syndrome. 370 11


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