Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two brothers showed severe and persistent hyperchloraemic metabolic acidosis (capillary blood pH 7.07--7.15) due to a low renal bicarbonate threshold at 11 mmol/l. The maximal tubular capacity for bicarbonate reabsorption was reduced to about half the normal. A high dose of acetazolamide (25 mg/kg) lowered the tubular bicarbonate reabsorption substantially, indicating the presence of carbonic anhydrase. Both the glomerular filtration rate, the renal blood flow and the renal concentrating capacity were slightly reduced. The clinical characteristics were: growth retardation, mental retardation, nystagmus, corneal opacities, cataract, glaucoma and enamel defects of the permanent teeth. Serum thyroxine was pathological low without clinical signs of hypothyreosis. The erythrocytes showed an increased osmotic resistance. Autopsy of the younger brother, who died 4 1/2 years old, revealed thyroid and thymus weights of 25% of the normal. The kidney tubular cells were swollen with vacuoles. The glomeruli had a normal appearance.
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PMID:Congenital persistent proximal type renal tubular acidosis in two brothers. 4 68

Two unrelated children with features of the Cornelia de Lange syndrome, including mental retardation, growth retardation, glaucoma, and a similar facies, had duplications corresponding to bands q25 leads to q29 of chromosome 3. These patients were compared to others with duplications of chromosome 3 and to a large series of patients with Cornelia de Lange syndrome. Diseases that sometimes involve characteristic chromosomal changes but have normal chromosomes in other instances are discussed.
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PMID:The association of chromosome 3 duplication and the Cornelia de Lange syndrome. 71 81

Mandibulofacial dysostosis, mental retardation, skeletal, genital, and ocular malformations occurred in a family with partial trisomy of the long arm of chromosome 2. Translocations of chromatin material from the long arm of chromosome 2 to the short arm of chromosome 9 was balanced in the female carriers of the pedigree but was unbalanced among the males. Ocular signs in the males included uveal coloboma, anterior chamber angle anomalies as in Ringer's syndrome, congenital glaucoma with dislocated lens, exotropia, and blepharoconjunctivitis. These findings were related to an inherited malformation syndrome.
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PMID:The eye in the partial trisomy 2q syndrome. 88 94

A patient is reported with a syndrome of mental retardation, congenital microcephaly, cleft palate, congenital heart defect, eventration of the diaphragm, optic atrophy, and glaucoma. Her facies was Crouzon-like and craniosynostosis, although not present at 10 months, was demonstrated postmortem at 29 months. It is suggested that she is an example of a true multiple congenital anomaly-mental retardation syndrome rather than an example of Crouzon syndrome with additional anomalies.
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PMID:Syndrome of mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, growth failure and craniosynostosis. 89 93

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

A translocation of a part of the long arm of a chromosome No. 1 onto the long arm of a chromosome No. 6 was observed in a 2 1/2-year-old boy with mental retardation, harelip, cleft palate and congenital glaucoma. Different banding methods revealed that the translocation t(1;6)(q23;q27) apparently was balanced. The conncection between the patients' symptoms and the chromosomal rearrangement might be fortuitous or produced by the chromosome aberration.
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PMID:A, 1;6, translocation associated with congenital glaucoma and cleft lip and palate. 122 19

A boy with congenital glaucoma, mental retardation and dysmorphic features is described. Chromosome analyses revealed two different, apparently balanced translocations; between the long arms of chromosomes 2 and 10 as well as between the long arms of chromosomes 8 and 12; 46,XY t(2;10)(q33;q26)pat, t(8;12) (q24;q21). The healthy father of the patient had the same balanced translocation between the long arms of chromosomes 2 and 10; 46,XY, t(2;10)(q33;q26).
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PMID:Congenital glaucoma resulting from a chromosomal translocation. 160 82

A Hispanic girl with Lowe oculocerebrorenal syndrome (OCRL), an X-linked recessive condition characterized by cataracts, glaucoma, mental retardation, and proteinuria, is reported. A balanced X;20 chromosomal translocation with the X chromosome breakpoint at q26.1 was found with high-resolution trypsin-Giemsa banding. Somatic cell hybridization was used to separate the X chromosome derivative and the chromosome 20 derivative in order to position, with respect to the translocation breakpoint, several DNA loci that are linked to the Lowe syndrome locus (Xq24-q26). DXS10 and DXS53 were found to be distal to the breakpoint, whereas DXS37 and DXS42 were located proximal to it. These studies suggest that the OCRL locus lies in the region between these probes. The translocation chromosome originated from an unaffected male without a visible translocation, indicating that the most likely cause of OCRL in this patient is the de novo translocation that disrupted the OCRL locus.
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PMID:Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. 189 26

We reported a case of Rubinstein-Taybi syndrome suspected in association with goniodysgenetic glaucoma, and studied using light and electron microscopy the anterior chamber angle tissues obtained surgically by trabeculectomy. The patient was 31-year old male, who had a systemic appearance of Rubinstein-Taybi syndrome with dwarfism, mental retardation, antimongoloid slant, flat-broad based thumbs, low set ears, high arched plate except for whorl of dermatographism. In addition to these malformations, goniodysgenetic glaucoma was also present which is characterized by underdevelopment of the angle recess and invisible ciliary body band in gonioscopic examination. The histopathological studies of the specimens revealed the presence of a compact tissue filled with a large amount of collagen fibers with few cells in the juxta-canalicular tissue of Schlemm's canal. There were 3 to 4 layers of trabecular sheets of corneoscleral meshwork at the anterior chamber side of the compact tissue. We conclude that the presence of the compact tissue under Schlemm's canal represents goniodysgenesis, underdevelopment of the trabecular meshwork, which is the primary cause of the glaucoma in this case.
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PMID:[A case of Rubinstein-Taybi syndrome suspected with goniodysgenetic glaucoma]. 222 May 8

The major goal of rubella immunization is the prevention of the congenital rubella syndrome. As many as 20 per cent of women in the reproductive age group in the United States continue to be susceptible to rubella despite the immunization programs currently in place. Intensified efforts are therefore needed to identify persons at risk for infection and to vaccinate them. Women who develop a rubella-like illness during pregnancy should have the diagnosis confirmed serologically because a diagnosis based on clinical criteria alone is unreliable and because of the serious implications of gestational rubella infection. The rubella virus can infect the fetus at any stage of pregnancy, but defects are rarely noted when this occurs after the 16th week of gestation. The most common abnormalities in the congenital rubella syndrome are hearing loss, mental retardation, cardiac malformations, and eye defects. Diabetes mellitus, thyroid disease, glaucoma, and other delayed manifestations of congenital rubella syndrome are common, thereby necessitating long-term followup of these patients. The detection of rubella-specific IgM antibodies in fetal blood is helpful in establishing the diagnosis prenatally and can aid in the management of pregnancies complicated by this infection. Susceptible women identified through screening during pregnancy should be immunized in the immediate postpartum or postabortion period. Although the live, attenuated rubella vaccine is contraindicated during pregnancy, pregnant women who are inadvertently immunized are not candidates for pregnancy termination because no defects consistent with congenital rubella have been reported to date in the offspring of other similarly vaccinated women.
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PMID:Maternal rubella and the congenital rubella syndrome. 328 22


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