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)

Chlorpromazine and fluphenazine decanoate were employed to treat aggressive behavior and emesis in a 22-year-old patient with Cornelia de Lange syndrome. Institution of the above neuroleptics, following an unsuccessful trial of diazepam, produced reductions of 95.1 per cent and 37.9 per cent for aggressive behavior and emesis, respectively. Four follow-up observations, occurring at 3-week intervals, revealed maintenance of low rates of aggressive behavior and continued reductions in emesis (mean reduction of 81.5 per cent). These findings are important for their a) inclusion of direct behavioral observation as the data base, and b) initial promising effects of neuroleptics for a rare mental retardation syndrome.
 ...
PMID:Pharmacological treatment of aggressive behavior and emesis in the Cornelia de Lange Syndrome. 51 49

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.
 ...
PMID:The association of chromosome 3 duplication and the Cornelia de Lange syndrome. 71 81

We report on a new case of trisomy for the distal portion of chromosome 5q, arising from a maternal balanced translocation, t(5;22)(q33;q13). The patient presented with mental retardation and peculiar craniofacial anomalies, similar to those already described in trisomy 5q3. Overall, the phenotype bore some resemblance to that of the Brachmann-De Lange syndrome. The extent of the duplicated region was investigated through a combined molecular-cytogenetic approach, using 5q probes for gene dosage analysis by Southern blot, which allowed confirmation of breakpoint assignment to band 5q33. Since most manifestations of trisomy 5q3 are observed in patients with duplications spanning 5q34-qter, it seems that the critical sequences involved in phenotype determination lie within this very distal segment.
 ...
PMID:Dosage analysis at the CSF1 and CSF1R loci in a new case of partial trisomy 5q. 160 15

Cornelia de Lange syndrome (CDLS) is characterized by multiple congenital malformations and mental retardation. New studies have documented otolaryngologic abnormalities. We examined 45 patients with CDLS. Virtually all had hearing loss, and most had impaired language development. Other otolaryngologic abnormalities, including external auditory canal stenosis and cleft palate, were also common. Because of the high incidence of otolaryngologic abnormalities, and the need for early intervention, it is important for otolaryngologists to recognize CDLS manifestations in the head and neck.
 ...
PMID:Cornelia de Lange syndrome. Otolaryngologic manifestations. 238 89

During its first seven years of operation, the Birth Place, a free-standing birth center in California, registered 898 women, of whom 690 (77%) were admitted in labor and 150 (17%) were referred for hospital birth prior to onset of labor. Using carefully delineated screening criteria, the center had an overall 18% intrapartum transport rate to the hospital, primarily for prolonged or arrested labor, a 3% cesarean section rate, no maternal mortality, and one neonatal death resulting from Cornelia de Lange syndrome, a congenital mental retardation-malformation syndrome of unknown etiology, which in this case was incompatible with life. Deliveries at the Birth Place were associated with low cost, a high level of maternal satisfaction, a low cesarean section rate, low neonatal mortality, and no maternal mortality.
 ...
PMID:Obstetric outcomes at the birth place in Menlo Park: the first seven years. 278 61

A 6-year-old boy whose chief complaint was retentio testis was referred to our clinic. He had mental retardation, shortness of stature of prenatal onset, retarded growth, microbrachycephaly, bushy eyebrows, long eyelashes, low-set ears and micromelia, and was diagnosed to have Cornelia de Lange syndrome. As in most cases of Cornelia de Lange syndrome the cause of our case was not clear, and chromosome analysis showed a 46,XY constitution. In our case, we performed bilateral orchidopexy for retentio testis because of the problem of fertility and the danger of malignancy. Cornelia de Lange syndrome is rare and the urologic literature dealing with this disease has never been reported in Japan. The clinical features of this disease are discussed in the present report.
 ...
PMID:[A case of Cornelia de Lange syndrome with retentio testis]. 286 86

Cornelia de Lange syndrome presents various problems for anesthetic management, which include anatomical anomalies of face and extremities, cardiopulmonary and endocrine disorders, renal dysfunction, epileptic EEG waves, and mental retardation. The choice of anesthetic procedure must be carefully considered in view of these abnormalities. We administered halothane anesthesia to an 11-year-old child with this syndrome who needed dental treatment. Anesthesia and postoperative course were uneventful, with the exception of a transient bronchospasm-like attack during anesthesia.
 ...
PMID:Anesthetic management of a patient with Cornelia De Lange syndrome. 295 21

A five-year-old girl was referred to prometaphase chromosome analysis because of mental retardation, facial dysmorphic features suggestive of Cornelia de Lange syndrome, cleft palate and additional minor congenital malformations of the cardiac system and fingers and toes. A familial balanced translocation (3;9)(q26.1; p23) was found. The karyotype of the proposita was 46,XX,der(9),t(3;9)(q26.1;p23). Thus the patient was trisomic for 3q26.1-qter and monosomic for 9p23-pter. The unbalanced chromosome constitution was not detected by standard Q-banding analysis shortly after birth. The karyotype was misdiagnosed as 46,XX,9(p+) in the proposita and her mother, and thought to be a normal variant of chromosome 9. The repeated cytogenetic study led to the diagnosis of the translocation and to the possibility of prenatal diagnosis in the translocation carriers. A survey of 22 published cases of dup(3q) showed that nearly 60% were secondary to familial balanced rearrangements with an excess of maternally derived abnormal chromosomes 3. Red blood cell galactose-1-phosphate-uridyltransferase (GALT) activity was normal in the patient, consistent with previous assignment of the gene locus for GALT to 9p13 (Shih et al. 1982).
 ...
PMID:Partial trisomy 3q syndrome inherited from familial t(3;9)(q26.1; p23). 365 93

Typus Degenerativus Amstelodamensis or Amsterdam dwarfism, a syndrome of unknown etiology characterized by mental retardation, a distinctive face, characteristic hands and feet, defective growth and other minor malformations, was first described by Cornelia de Lange in 1933. Approximately 69 cases, including nine autopsies, have been reported in the literature. In this paper we present a further 20, with illustrations of the syndrome from infancy to puberty (including de Lange's original three cases). The historical, physical, laboratory and radiographic findings of de Lange's three patients and our 20 are tabulated. Autopsy findings in one of our patients are reported and the literature is briefly reviewed.Although some observers have recently reported chromosome abnormalities in de Lange's syndrome, we feel that the diagnosis is made from the history and physical examination and that there are no definitive laboratory aids which can confirm the diagnosis. Chromosome studies in all 20 of our patients were normal and the genetic implications are discussed.
 ...
PMID:De Lange syndrome: report of 20 cases. 602 88

Fourteen previously reported cases of the fetal alcohol syndrome (FAS) showed anomalies of brain structure varying in severity from microscopic disorganization of tissue structure, or abnormalities in neuronal or glial migration only visible microscopically, to complete or partial agenesis of regions such as the corpus callosum or cerebellum and large neuronal heteropias. The difficulty is illustrated of differentiating this type of damage, lacking in specificity and uniformity, from other syndromes of uncertain aetiology, such as De Lange, DiGeorge and Dubowitz, in at least one of which (DiGeorge syndrome) maternal alcoholism has been implicated. Similar brain damage is also seen in other conditions with known causes. In FAS and syndromes with this type of brain damage, most of the non-CNS features which make the conditions clinically recognizable may well be determined by timing or ancillary factors. Alcohol-related antenatal effects should not be identified to restrictively with FAS but should be considered in any condition of unknown aetiology with disorganization of brain structure and mental retardation.
 ...
PMID:Range of alcohol-induced damage in the developing central nervous system. 656 85


1 2 3 4 5 6 7 Next >>