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)

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 3-year-old boy with mixed glomerular/tubular proteinuria, mental retardation, and hyperkinesis is described. The proteinuria was discovered at the age of 3 years on urinary mass screening. Most of the urinary protein consisted of albumin, accompanied by increases in low molecular weight proteins, including beta 2-microglobulin and alpha 1-microglobulin. Mixed glomerular/tubular proteinuria is known to be caused by the following conditions: chronic renal failure, chronic pyelonephritis, cadmium poisoning, tubulointerstitial nephritis of various etiologies, and after strenuous, short-term, exhaustive exercise. The present patient did not display any of these disorders or conditions.
 ...
PMID:Glomerular/tubular mixed-type proteinuria in a 3-year-old boy with mental retardation and hyperkinesis. 147 31

A 3-year evaluation of The Children and Adolescent Pregnancy Project suggests that adolescents with mental retardation may be at increased risk for early pregnancy and dropping out of school. The Pregnancy Project is a school-based intervention that primarily serves black and Hispanic pregnant teens with mild to moderate mental retardation and elementary school-age pregnant teens in the same program. Outcome data were presented in terms of four common indicators of teen pregnancy programs: low birth weight, infant mortality, school drop out, and repeat pregnancy rates. Results indicate that serving pregnant adolescents with mild to moderate mental retardation (ages 11 to 19) in the same program with very young pregnant teens (ages 11 to 15) is an effective and developmentally appropriate means of reducing risks.
 ...
PMID:Reducing the risks in pregnant teens who are very young and those with mild mental retardation. 151 99

A 3-year-old boy was seen because of delayed developmental milestones, waddling gait, nonprogressive proximal muscle weakness and hyporeflexia. Serum creatine kinase levels were normal and EMG was non-diagnostic. Muscle biopsy revealed complete absence of type 2 A and 2 B fibers in addition to a moderate variation in fiber size. Diagnostic findings for congenital nonprogressive myopathies were not present such as nemaline bodies, cores, targetoid structure, central nuclei or selective type 1 fiber atrophy. This was the first case of a distinct form of non-progressive congenital myopathy, "congenital neuromuscular disease (myopathy) with uniform type 1 fibers", accompanied with mental retardation in Japan.
 ...
PMID:[Congenital neuromuscular disease with uniform type 1 fibers : a case report]. 204 74

Two experiments extended earlier research showing age- and intelligence-invariance in memory for spatial location. Second and sixth graders, college students, and mildly retarded persons relocated pictures after looking through a 100-picture book. There were no differences due to age, IQ, or instruction (intentional or incidental) in location memory; there were differences in picture recall. In a second experiment persons with Down syndrome, as a group, were less accurate in location memory than were college students, but many individuals performed as accurately. A 3-month follow-up on the subjects with Down syndrome revealed greater consistency in location memory than in recall. Overall, the results show that young children and mildly mentally retarded persons process spatial location information as well as do college students. Some, but not all, of the more severely mentally retarded persons had deficits in processing memory for location. All persons with mental retardation had deficits in effortful processing as reflected by free recall.
 ...
PMID:Memory for spatial location in children, adults, and mentally retarded persons. 252 25

A 3 years old boy was admitted due to recurrent attacks of tetany and carpopedal spasm since one and a half years of age. The tetany lasting for 1-2 minutes in each episode was often preceded by an upper respiratory tract infection and occurred 2-3 times a month. Both birth and family history were unremarkable. Physical findings showed mild psychomotor retardation with positive Chvostek sign. Laboratory examination revealed hypocalcemia, hyperphosphatemia, and low serum parathyroid hormone level. EEG showed abnormal tracing with increased slow waves. Head CT Scan demonstrated symmetrical calcification in the basal ganglia region. The clinical features and laboratory findings were consistent with hypoparathyroidism. The mechanism of calcium deposit in the basal ganglia still remains unclear. Tetany, muscle cramping and seizures secondary to hypocalcemia are the most common neurologic signs which respond quickly to calcium replacement. Subsequent supplemental therapy resolved movement disorders and mental retardation. If early treatment prior to the tetanic episodes is instituted in a patient with hypoparathyroidism, it may prevent the development of complications such as intracranial calcifications, cataract and permanent retardation.
 ...
PMID:[Primary hypoparathyroidism with basal ganglia calcification: report of a case]. 263 91

A 3-year-old girl, her mother, and maternal uncle had microcephaly and mental retardation. Their facial appearance is characterized by deep-set eyes, short philtrums, and a "beaked" nose. The mother and uncle live in an adult foster care facility because of mental retardation. The 3-year-old girl has a developmental quotient of 55. Mother has normal phenylalanine level and the child's chromosomes are normal. This appears to be a first report of a autosomal dominant form of microcephaly associated with mild to moderate mental retardation in contrast to absent or mild mental retardation described in earlier reports.
 ...
PMID:Autosomal dominant microcephaly with mental retardation. 280 73

A 3-month-old boy with true microcephaly showed the same balanced reciprocal translocation 1q4p as his carrier mother. This reciprocal translocation had been transmitted for at least four generations. Different banding techniques allowed one to describe the rearrangement as: rcp t(1;4) (1pter----1q31::4p161----4pter; 4qter----4p153::1q321----1qter). On the other hand, the proband's father seemed to be a border-line mentally retarded and one of his relatives suffered from mental retardation of unknown origin. Taking into account all these results together with the current literature, it was concluded that the microcephaly appearing in our case could be due to the following two facts: (a) the father was an heterozygote for the gene for microcephaly, and (b) damage or a minute deletion on chromosome 1 between 1q31 and 1q321 bands could occur in the mother's family resulting in a mutation for microcephaly. If this was so, the gene for microcephaly should be located on chromosome 1 at the level of the 1q31-1q321 junction.
 ...
PMID:Is a gene for microcephaly located on chromosome 1? 674 46

A 3 1/2-year-old boy revealed moderate motor and mental retardation, normal growth, a congenital heart defect and multiple minor dysmorphic signs and anomalies including brachycephaly, orbital hypotelorism, upward slanting palpebral fissures, short and beaked nose, full cheeks, malformed auricles, hypoplastic external genitalia, rocker-bottom feet with prominent heels, and various minor radiologic anomalies of bones. An extra chromosome in his karyotype appeared to represent trisomy of the short arm of chromosome 20 due to a maternally inhherited balanced t(13;20)(p11;q11) translocation.
 ...
PMID:Trisomy 20pter = to q11 in a malformed boy from a t(13;20)(p11;q11) translocation-carrier mother. 735 83

A 3-year-old boy with left anophthalmia and hemifacial microsomia was found to be not severely retarded. Previous reports have emphasized concomitant severe mental retardation in patients with this malformation complex. Review of the literature and the present case indicate that mental retardation is a variable feature of this condition.
 ...
PMID:Mental retardation and unilateral anophthalmia in hemifacial microsomia. 744 1


1 2 3 Next >>