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

We report six males with the syndrome of macroorchidism and mental retardation. The trait is inherited as though X-linked, or possibly autosomal dominant male-limited. We also found no evidence of gonadal dysfunction. Associated abnormalities were abnormal EEG (3/4), seizures (2/6), and one instance each of cervical vertebral fusion, cataract, esophoria, and abnormal cutaneous pigmentation. One woman with a 50% a priori risk of bearing the mutant gene had mental retardation and seizures. Results of Xg blood-group typing were uninformative for the purpose of linkage analysis.
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PMID:The X-linked syndrome of macroorchidism and mental retardation: further observations. 26 49

We studied the abnormal ocular and systemic findings in one case of true triploidy and two cases of triploid mosaicism. A liveborn triploid child 69,XXY, had abnormalities including cebocephaly, a single midline nostril, incomplete cleft palate, transverse palmar creases, partial syndactyly, and ambiguous genitalia. Ocular abnormalities included hypotelorism, blepharophimosis, microcornia, iris coloboma, cataract, persistent hyaloid vasculature, retinal dysplasia, and optic atrophy. A 16-year-old girl with triploid mosaicism had congenital left facial and body hemiatrophy, both growth and mental retardation, left-sided grand mal seizures, incontinentia pigmenti of both legs, partial syndactyly, and generalized weakness. Results of her ocular examination were within normal limits. A 13-year-old boy with triploid mosaicism exhibited both growth and mental retardation, truncal obesity, and required a brace to support his back. Ocular findings included synophrys, bilateral blepharoptosis, and abnormal results of Schirmer tear test. Studies indicate a wide spectrum of ocular and systemic abnormalities occur that are presumably associated with the chromosome error.
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PMID:Ocular findings in triploidy. 41 37

Myotonic dystrophy is a well recognised and well defined multisystem disorder which is inherited in an autosomal dominant fashion through a locus on chromosome 19. The disease itself is characterised by rigidity and degeneration of skeletal muscle, cataract formation, gonadal atrophy, frontal baldness and mental retardation. Like many inherited disorders there is a variable expression and so diverse clinical presentations can occur.
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PMID:Could it be myotonic dystrophy? Myotonic dystrophy presenting with atrial flutter. 149 7

A series of 15 patients with Peters' anomaly observed from 1987-1991 and a patient showing Wolf-Hirschhorn syndrome were studied retrospectively. Combined ocular anomalies were: microphthalmos (9x), myopia (4x), aniridia (2x), cataract (2x). Five of the patients had combined general anomalies: mental retardation, deafness, cardiac malformation (ASD II), and luxatio coxae. In two of them chromosomal anomalies were found: 4p minus syndrome, mosaic trisomy 9. After comparison of these data with those known from the literature the author confirms that Peters' anomaly is a morphologic finding rather than a distinct entity. Treatment depends on individual histopathologic findings and on the psychophysical development of the child.
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PMID:Peters' anomaly and combination with other malformations (series of 16 patients). 149 63

We studied the prevalence and types of complications that occurred in children treated with epikeratoplasty to identify risk factors. A review of the clinical records of 88 consecutive patients (106 eyes; 114 procedures) revealed that no complications occurred in 58 grafts (54%). Refractive complications (refractive error greater than 3.00 diopters spherical equivalent from emmetropia or astigmatism greater than 3.00 diopters) occurred in 30 eyes (28%). Medical complications occurred in 22 eyes (19%); these included epithelial defects (14 grafts), interface opacities (six grafts), graft vascularization (eight grafts), graft infection (two grafts), graft necrosis (five grafts), graft haziness (four grafts) or opacification (11 grafts), and graft dehiscence (three grafts). Eleven grafts (10%) were removed and five eyes received new grafts. Epikeratoplasty in children will be more successful if risk factors such as patient age less than one year, microcornea, corneal endothelial cell dysfunction, mental retardation, and combining the procedure with cataract surgery are avoided.
J Cataract Refract Surg 1992 May
PMID:Risk factors for complications following pediatric epikeratoplasty. 159 33

Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this syndrome is discussed including the syndromes described by Berman et al and Koletzko et al.
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PMID:Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. 166 80

We have studied 2 Egyptian sibs (the offspring of normal first cousins) with congenital cataract, hypertrichosis, mental retardation, and normal chromosomes. Review showed that the condition of our patients was not similar to any previously reported entity. POSSUM lists 84 syndromes with any of the above 3 main traits. Two disorders with cataract and mental retardation, Martsolf syndrome and Mollica-Pavone-Anterer syndrome, have overlapping manifestations and therefore are particularly differentiated from our cases. We suggest that the association of congenital cataract, hypertrichosis, and mental retardation observed in this report represents a new autosomal recessive syndrome.
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PMID:Cataract, hypertrichosis, and mental retardation (CAHMR): a new autosomal recessive syndrome. 177 32

A new syndrome of congenital cataract, hearing loss, hypercholesterolemia, spasticity of the lower extremities, and perhaps mental retardation, is described. Manifestation in two brothers with no other affected family members suggests an autosomal recessive pattern of inheritance. A discussion of the differential diagnosis of oculo-auditory syndromes is presented.
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PMID:Cataract, hearing loss and hypercholesterolemia. 208 Jul 9

The Lowe oculocerebrorenal syndrome (OCRL) is characterized by congenital cataract, mental retardation, and renal tubular dysfunction. We are using the approaches of linkage analysis, mapping with somatic cell hybrids, and long-range restriction mapping to determine the order of Xq24-q26 markers with respect to each other and to the OCRL locus. DXS42 and DXS100 are proximal to the translocation breakpoint in a female patient with OCRL and a de novo translocation t(X;3)(q25;q27). DXS10, DXS86, HPRT, and DXS177 are distal to the breakpoint. These flanking markers show tight linkage to the disease locus in 11 families segregating for OCRL. Results from field inversion gel analysis show that DXS86 and DXS10 share a 460-kb BssHII fragment. Multipoint analysis to determine the position of HPRT with respect to (DXS10,DXS86) suggests that HPRT is proximal to (DXS10,DXS86). We propose the following order for markers in Xq24-q26: Xcen-(DXS42,DXS37,DXS100)-OCRL-DXS53 -HPRT-[(DXS10,DXS86),DXS177]-Xqter. The identification of additional tightly linked flanking markers extends the number of markers available for use in genetic counseling and begins to define the physical map of the region containing the gene for OCRL.
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PMID:Genetic and physical mapping of Xq24-q26 markers flanking the Lowe oculocerebrorenal syndrome. 208 1


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