Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the fetal hydantoin syndrome: growth retardation, microcephaly, mental retardation, and a distinct hysmorphic pattern. Both exhibited a ridged metopic suture, hypertelorism, a short nose with a broad base, hypoplasia of the distal phalanges and nails of the toes, and inguinal hernias. In addition the 18-month-old girl exhibited epicanthal folds, strabismus, ptosis, and a small ventricular septal defect; she had been exposed in utero to 300 mg mesantoin daily. Her 6 1/2-year-old brother was more severely retarded, lacking speech and presenting with infantile autism. During pregnancy the mother had taken 400 mg mesantoin daily. About half of the offspring of epileptic women treated with hydantoin during pregnancy are mentally retarded, and 11% exhibit in addition the pattern of dysmorphic findings known as the fetal hydantoin syndrome. Hydantoin should therefore be strictly avoided in epileptic women of child-bearing age unless safe contraceptive measures are taken. In the event of pregnancy, therapeutic abortion should be considered if hydantoin therapy must be maintained.
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PMID:[Fetal hydantoin syndrome in siblings]. 10 83

A sibship originally reported by Friedman and Roy as showing severe mental retardation, strabismus, hyperactive tendon reflexes, lalling speech, and foot deformities was restudied. Three major additional findings were noted. The cerebrospinal fluid protein concentration was increased two to three times above normal in four siblings who were available for study. Radiographs of cranial structures in three siblings showed identical pathologic intracranial calcifications which correspond in distribution to the choroid plexus. The choroid plexus was not demonstrable in one patient when radiolabeled 99m-Tc-pertechnetate was injected without perchlorate. Neuropathologic findings in one sibling included small subcortical heterotopias and atrophy of the choroid plexus with encasement by glial fibrils. These findings denote a new heredofamilial neurologic syndrome associated with mental retardation and a disorder of choroid plexus.
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PMID:Familial amentia, unusual ventricular calcifications, and increased cerebrospinal fluid protein. 31 25

A syndrome consisting of colobomatous microphthalmia, heart disease, abnormalities of the external ear with associated hearing loss, and mental retardation is described. Nine children and one adult were evaluated. There is not race or sex predilection. The syndrome can be heritable, as shown by a mother and daughter who were among the patients. In addition to the four major components enumerated, multiple other anomalies may be associated. In some cases, the syndrome may occur incompletely. Whenever two or more of the four components are recognized, the other systems usually affected should be investigated.
J Pediatr Ophthalmol Strabismus
PMID:Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation--a syndrome. 45 18

The eyes of 1 466 children (88.3% of the total) who were admitted to the Centre for premature babies and the neonatal intensive care unit at Rennes between 1973-1975 were re-examined at the age of 2 years. There were 839 premature and 226 term babies whose weight was appropriate for gestational age, and 74 premature and 327 term babies who were small for dates. 95 (6.5%) had eye disorders at the age of 2. Abnormalities were more common in infants with a Birth weight of less than 1 500 g and in those with a gestional age of less than 28-30 weeks. Boys were more commonly affected than girls. 38% of the children with eye disorders had other problems of which the commonest was mental retardation (75%). There was no relation between perinatal complication and the incidence of eye disorders. The most common abnormality was squint (94%) but other problems were major (blindness, cataracts, retrolental fibroplasia). 37% of the abnormalities had not been diagnosed until found in the survey at the age of 2 years.
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PMID:[Ophthalmologic evaluation at the age of 2 years of newborn infants hospitalized in the neonatology center at Rennes]. 53 46

Two unrelated girls, aged 6 and 8 years, respectively, are presented with complete trisomy 22 in the absence of detectable mosaicism. In each case, the extra chromosome has been unambiguously identified as chromosome No. 22. The features which were consistent in both girls included: advanced maternal and paternal ages, a history of repeated abortions and stillbirths, normal birthweight with no gross post-natal growth retardation, mental retardation with further severe deterioration at 3-5 years of age, epilepsy (particularly motor seizures), hypotonia, neurological (especially cerebellar) deficit, and abnormal E.E.G. patterns. The physical stigmata comprised: frontal bossing, hypertelorism, bulbous nose, antimongoloid slant of the palpebral fissures, strabismus, long philtrum, large rotated protruding low-set auricles, pectus excavatum, and abnormal dermatoglyphics. The clinical course of the disorder was suggestive of a degenerative phenomenon of the central nervous system neurones.
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PMID:Complete trisomy 22. 56 44

Two siblings suffering from congenital Leber amaurosis were found to be affected also by juvenile nephronophtisis. Keratoconus in one child and mental retardation in the other developed during their later growth. An extensive laboratory study showed normal results but revealed an impaired urinary concentrating ability. The hereditary pattern operating in this complex disease was found to be consistent with an autosomal recessive trait.
J Pediatr Ophthalmol Strabismus
PMID:Congenital Leber amaurosis, keratoconus, and mental retardation in familial juvenile nephronophtisis. 73 40

This paper reports on Mietens' syndrome which is characterized by mental retardation, growth failure, flexion contracture of the elbows, dislocation of the radius, abnormally short ulna and radius, bilateral corneal opacity, horizontal and rotational nystagmus, strabismus and a small pointed nose with depressed root. This is the second on the Mietens' syndrome.
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PMID:Meitens' syndrome. 88 39

A 3-year-old Latin female is reported with a terminal deletion of the No. 1 chromosome, karyotype formula 46, XX, del(1) (q43). Principle clinical features include: Anatomic - microcephaly; bilateral, convergent strabismus; epicanthus; brachycephaly; bulbar nose; sparse hair; partial soft tissue syndactylism between 2nd and 3rd fingers which are slightly tapered; whorls on all 10 fingers; mild prognathism; solitary kidney; vaginal stenosis; vesicoureteral reflux; asymmetric feet; and subluxation of peroneal tendons around the fibula with severe pronation and heal valgus deformity. Neurologic - moderate motor and mental retardation; high-pitched, shrill cry; absent pincer grasp at 3 years; and grand mal seizures documented from 9 months of age.
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PMID:Terminal (1)(q43) long-arm deletion of chromosome no. 1 in a three-year-old female. 95 13

A 16-year-old boy with trisomy 8 mosaicism is presented. Increased birth weight, delayed psychomotoric and accelerated somatic development, and mental retardation were noted; he exhibited a prominent forehead, a broad-bridged upturned nose, an everted lower lip, low set dysmorphic ears, strabismus, slender trunk, narrow pelvis, osseous and joint anomalies, clinodactyly, deep skin furrows on the soles, and agenesis of the corpus callosum. The trisomic cell line was observed throughout the follow-up examinations from the fibroblast cultures between 1962 and 1973, but has disappeared from the lymphocyte culture. The clinical picture of this case is compared with the leading clinical signs and symptoms of the 25 cases with confirmed trisomy 8 so far published. A scheme is proposed in order to keep in mind the clinical picture suggesting trisomy 8.
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PMID:Trisomy 8 mosaicism. A case report and a proposed list of the clinical features. 99 75

A 10-year-old retarded child was seen by an ophthalmologist because of strabismus. Examination of the optic nerve heads revealed cupping consistant with glaucoma and initiated a referral. The appearance of this girl, with flat-broad based thumbs and toes, small head, low set ears, high arched brows, antimongoloid slant to the eyes, high arched palate, associated with mental retardation, and strabismus suggested the Rubinstein-Tabyi Syndrome. Gonioscopy revealed a high iris insertion, while tonometry indicated mildly elevated pressures in the right eye. Examination of the optic nerve heads showed large glaucomatous type cups, more so on the right with compromise of the temporal rim. Trabeculectomy was effective in controlling the intraocular pressure in the right eye. The association of juvenile glaucoma with the Rubinstein-Taybi Syndrome requires that ophthalmic referral to assess glaucoma be an essential part of the evaluation.
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PMID:Juvenile glaucoma in the Rubinstein-Taybi syndrome. 101 93


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