Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 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.
 ...
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.
 ...
PMID:Familial amentia, unusual ventricular calcifications, and increased cerebrospinal fluid protein. 31 25

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.
 ...
PMID:Complete trisomy 22. 56 44

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.
 ...
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.
 ...
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.
 ...
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.
 ...
PMID:Juvenile glaucoma in the Rubinstein-Taybi syndrome. 101 93

3 cases of the 18q- syndrome, 2 boys and 1 girl, are presented, and a comparison with data from the literature is given. The following features are typical of the syndrome: short stature, mental retardation, muscular hypotonia, a peculiar dysmorphia of the face and ears, cryptorchidism and small scrotum in males, proximally implanted thumbs, tapering fingers, excess of whorls on the fingertips, and dorsally implanted second toes. Midface hypoplasia with hypertelorism and cleft palate, as well as strabismus, were present in 2 of our patients, whereas all 3 showed nystagmus and prominence of anthelix and antitragus. In addition, 2 patients exhibited narrow ear canals and impaired hearing. One patient had coloboma of the iris and choroid, pale optic discs, and cleft lip; another had umbilical and inguinal hernias. Two cases represented de novo deletions of the long arm of chromosomes 18, whereas the karyotype of the father of third case revealed a balanced translocation t(15;18)(q24;q21).
 ...
PMID:Structural aberrations of chromosome 18. II. The 18q- syndrome. Report of three cases. 111

Few guidelines have been advanced for the management of brain damaged children with strabismus. Conservative therapy with lenses, prisms, occlusion, atropine and late surgery has been suggested but without specific methods or ages being advocated. The authors undertook the treatment of these children utilizing the standard principles of strabismus therapy as applied to neurologically normal children. A further consideration is a satisfactory cosmetic appearance which wins greater self, peer and parental acceptance in these handicapped children. The results of therapy of this series of patients with cerebral palsy indicates that satisfactory alignment can be achieved in the majority even in the presence of severe motor involvement and/or mental retardation. Ninety percent of those patients with treated accomodative esotropia achieved a satisfactory alignment. Those patients with non accommodative esotropia had a satisfactory alignment in 77% of the patients operated upon and those with exotropia achieved this result in 86% of the patients operated upon. Only five (2%) patients spontaneously reduced their angles to cosmetically acceptable ranges. Overcorrections occurred in 10 (11%) patients in the surgically treated nonaccommodative esotropes and 4 (3%) of these patients required further corrective surgery. Only one exotropic patient was rendered esotropic postoperatively. The average age of initial surgery in the esotropic patients was 3.9 years and 5.7 years in the exotropic patients. The older ages for surgical intervention reflects the more conservative approach to these neurologically abnormal children and allow an increased time interval for the development of a stable preoperative oculomotor alignment.
 ...
PMID:Current concepts in the management of strabismus in children with cerebral palsy. 114 6

The case of a 40-year-old patient with congenital trisomy 8 and sex chromosome mosaicism is discussed. The main clinical features were: mental retardation, thick and darkly pigmented skin, prominent forehead, convergent strabismus, high arched palate, flexion contractures of the extremities, and numerous skeletal abnormalities. The patient developed severe aplastic anemia followed by an interim period of preleukemia which developed into acute leukemia. Electron microscope examination of the white blood cells at the stage of the aplastic anemia showed ultrastructural abnormalities similar to those observed in other genetic disorders with a predisposition to leukemia, as well as in leukemia.
 ...
PMID:Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism. Ultrastructural studies of polymorphonuclear cells in peripheral blood. 124 72


1 2 3 4 5 6 7 8 9 10 Next >>