bluuebunny/crossref_metadata_2025_split huggingface dataset:
Variability of the Brachmann‐de Lange Syndrome
Authors: Selicorni A. , Lalatta F. , Livini E. , Briscioli V. , Piguzzi T. , Bagozzi D. Clerici , Mastroiacovo P. , Zampino G. , Gaeta G. , Pugliese A. , Cerutti‐Mainaroli P. , Guala A. , Zelante L. , Stabile M. , Belli S. , Franceschini P. , Gianotti A. , Scarano G. 
Published: June 2005

AbstractBrachmann‐de Lange syndrome (BDLS) is a relatively common multiple congenital anomaly/mental retardation syndrome, whose cause is unknown. The clinical variability of this condition is well‐known. Recently some reports suggested the possible existence of a mild BDLS phenotype.We report on 30 patients in whom a diagnosis of BDLS was made or strongly suspected in 12 different Italian hospitals. Based on clinical evaluation we divided them into two groups, classical and mild BDLS cases. We compare the clinical data of these patients and we discuss the problems which arise in trying to define clear criteria of distinction between these two groups. © 1993 Wiley‐Liss, Inc.
Mild mental retardation with classic somatic phenotype in the Brachmann‐de Lange syndrome
Authors: Clericuzio Carol L. 
Published: June 2005

AbstractSevere Mental retardation is the most handicapping disability for individuals with Brachmann‐de Lange syndrome (BDLS). Reports of higher functioning patients with suspected BDLS have invariably described those with a “mild” BDLS somatic phenotype. Here we report on 2 high‐functioning females, ages 3.7 and 10.6 years, with the classic BDLS somatic phenotype, i.e., all growth parameters at 4–5 standard deviations bellow the mean prenatally and postnatally. These 2 patients serve to extend the spectrum of classic BDLS to include cognitive function in the mild‐to ‐moderate range of mental retardation. © 1993 Wiley‐Liss, Inc.
Brachmann‐de Lange syndrome with normal IQ
Authors: Saal Howard M. , Samango‐Sprouse Carole A. , Rodnan Leslie A. , Rosenbaum Kenneth N. , Custer Deborah A. 
Published: June 2005

AbstractThe Brachmann‐de Lange syndrome is a disorder with a high degree of clinical variability, generally associated with moderate to severe mental retardation. To date, 7 previous cases of Brachmann‐de Lange syndrome with normal intelligence (IQ > 70) have been described. We report the eighth case of Brachmann‐de Lange syndrome with normal intelligence. In reviewing thr literature, consistent clinical menifestations seen in these 8 patients that are of prognostic value are the absence of significant limb anomalies and birth weight > 2,500 g. © 1993 Wiley‐Liss, Inc.
Developmental data on individuals with the Brachmann‐de Lange syndrome
Authors: Kline Antonie D. , Stanley Christian , Belevich Jacqueline , Brodsky Karen , Barr Marie , Jackson Laird G. 
Published: June 2005

AbstractOne hundred twenty‐two patients with clinically confirmed Brachmann‐de Lenge syndrome (BDLS) were evaluated developmentally. Recruitment was made from our genetics department and through meetings of the Cornelia de Lange Syndrome Foundation parent support group. Developmental information was obtained from records of physicians, schools and developmental centers, or from parents on each of the 122 individuals, allowing division in to four groups for study: group 1 (n = 48) underwent formal developmental assessments, which generated intelligence or developmental quotients, and had a completed parental questionnaire with specific developmental questions regarding ages of skills mastered; group II (n = 23) had additional developmental records available without formal testing, as well as the questionnaire; group III (n = 22) had a only a completed questionnaire; and group IV (n = 29) had formal developmental testing or other developmental records but no available questionnaire. These data were analyzed in order to be able to predict attainable psychomotor development. Average scores on formal testing were found to be in the mild to moderate level of mental retardation, ranging from below 30 to 85, with an average intelligence quotient of 53, higher than previously reported. Visual‐spatial memory and perceptual organization skills were found to be strengths. Younger individuals born before 1980 demonstrated higher scores on testing. Early intervention appears to play a major role in the level of developmental achievement. © 1993 Wiley‐Liss, Inc.
DiGeorge anomaly with renal agenesis in infants of mothers with diabetes
Authors: Wilson Thomas A. , Blethen Sandra L. , Vallone Ambrose , Alenick D. Scott , Nolan Patricia , Katz Arnold , Amorillo Thomas P. , Goldmuntz Elizabeth , Emanuel Beverly S. , Driscoll Deborah A. 
Published: June 2005

AbstractWe report on 2 infants with the DiGeorge anomaly born to diabetic mothers treated with insulin. Both infants had unilateral renal agenesis. One of the mothers has manifestations suggestive of velo‐cardio‐facial syndrome (VCFS). Cytogenetic studies on both patients and the mother with apparent VCFS were normal. Molecular studies utilizing probes from the DiGeorge critical region did not demonstrate a 22q11 microdeletion in either patient or the mother with apparent VCFS. We conclude that maternal diabetes is a pathogenetic factor in the DiGeorge anomaly, and infants of diabetic mothers who have this anomaly should also be screened for renal agenesis. © 1993 Wiley‐Liss, Inc.
Roberts syndrome: A review of 100 cases and a new rating system for severity
Authors: Van Den Berg David J. , Francke Uta 
Published: June 2005

AbstractRoberts syndrome (RS) is a rare genetic disorder characterized by pre‐ and postnatal growth retardation, limb defects, and craniofacial anomalies. Affected persons have varying degrees of malformations involving symmetric reduction in the number of digits, and length or presence of bones in the arms and legs. Craniofacial malformations involve hypertelorism, hypoplastic nasal alae, and a high incidence of cleft lip and palate. Familial and sporadic cases have been reported consistent with an autosomal recessive mode of inheritance. Mitotic cells from many individuals with RS display a characteristic cytogenetic phenomenon consisting of repulsion of heterochromatic regions near centromeres, particularly of chromosomes 1, 9, 16, and splaying of the short arms of the acrocentrics and of the distal Yq. Mitosis in RS cells is abnormal in metaphase duration and anaphase progression. Specifically, anaphase figures show a higher degree of chromosomes that are outlying, lagging, or prematurely advancing toward the poles compared to normal controls. RS cells have abnormal nuclear morphology and also show a higher frequency of micronucleation than normal cells, presumably as a result of the abnormal mitotic events during anaphase. Therefore, RS has been interpreted as a human mitotic mutation syndrome which leads to secondary developmental defects. This report reviews 100 cases of RS, summarizes the phenotypic, genetic, cytogenetic, and cell biology findings in Roberts syndrome, and introduces the RS Rating for quantitating severity. © 1993 Wiley‐Liss, Inc.
Malformations and deformations in abdominal pregnancy
Authors: Stevens Cathy A. 
Published: June 2005

AbstractAbdominal gestation is a relatively uncommon complication of pregnancy. Previous reports describe a high incidence of fetal deformations and mortality as well as maternal mortality. A case of twin abdominal gestation is presented and the literature concerning abdominal pregnancy since 1809 is reviewed. The survival rate of liveborn infants of 30 or more weeks gestation was 63%. The maternal mortality rate since 1809 was 18.2%, but this has decreased to 4.5% during the last 20 years. The combined rate of malformations and deformations in the infants was 21.4%. The most common deformations observed were facial and/or cranial asymmetry and various joint abnormalities. Among the most common malformations were limb deficiency and central nervous system malformations. Proposed mechanisms of compression and vascular disruption are discussed. © 1993 Wiley‐Liss, Inc.
Genetic etiology of nuclear cataract: Evidence for a major gene
Authors: Heiba Ibrahim M. , Elston Robert C. , Klein Barbara E. K. , Kein Ronald 
Published: June 2005

AbstractSibling correlations and segregation analysis were used to examine the familial distribution of age‐sex‐adgusted measures of nuclear sclerosis in 1,247 individuals from 564 sibships in the Beaver Dam Eye Study. There are highly significant sibling correlations for all sibs, and separately for sister‐sister, sister‐brother, and brother‐brother pairs. Two transformed normal distributions give the best fit to the data. The hypothesis of mendelian transmission of a major effect cannot be rejected, but the hypothesis of a random environmental major effrect is rejectd. The parameters of the τABfree model showed close similarity to the values expected under a mendelian hypothesis. Our results suggest that a single major gene can account for 35% of the total variability of age‐sex‐adjusted measures of nuclear sclerosis. © 1993 Wiley‐Liss, Inc.
Familial remitting chorea, nystagmus, and cataracts
Authors: Wheeler Patricia G. , Dobyns William B. , Plager David A. , Ellis Forrest D. 
Published: June 2005

AbstractWe report on 2 brothers with chorea and monocular horizontal nystagmus beginning in early infancy, both of which remit during the first decade of life, and peripheral cataracts. While this condition shares manifestations with benign hereditary chorea and several other familial movement disrders, the slowly remitting course of the chorea combined with the visual abnormalities appears to be unuque. © 1993 Wiley‐Liss, Inc.
Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or robertsonian translocations in down syndrome
Authors: Shaffer Lisa G. , McCaskill Christopher , Haller Vickie , Brown Judith A. , Jackson‐Cook Colleen K. 
Published: June 2005

AbstractWe have used 9 conventional RFLPs and 6 dinucleotide repeat polymorphisms on chromosome 21q to demonstrate that 17 of 19 cases of rea(21q21q) were consistent with isochromosomes i(21q) with the remaining 2 being true Robertsonian translocations. Eight of the 17 isochromosomes were of maternal origin and 9 cases were paternally derived. The 2 Robertsonian translocations were both maternally derived. Of the 17 isochromosomes, 7 were dicentric Wc(21q)I and 10 were monocentric M21q)l. Both rob(21q21q) were monocentric. Our findings agree with those made in 17 previously published cases of rea(21q21q). The parental origins of the i(21q) were equally divided between maternal (n = 17) and paternal (n = 15) origins. All 4 true rob(21q21q) reported to date are of maternal origin. Collectively, it appears that most homologous rearrangements of chromosome 21 are isochromosomes and only a small proportion are consistent with true Robertsonian translocations. © 1993 Wiley‐Liss, Inc.
C to T nucleotide substitution in codon 713 of amyloid precursor protein gene not found in 86 unrelated schizophrenics from multiplex families
Authors: Coon Hilary , Hoff Mark , Holik John , Delisi Lynn E. , Crowe Timothy , Freedman Robert , Shields Gail , Boccio Angela M. , Lerman Melissa , Gershon Elliot S. , Gejman Pablo V. , Leppert Mark , Byerley William 
Published: June 2005

AbstractJones et al. Nature Genet 1:306–309, [1992] recently detected a C to T nucleotide transition (codon 713) in a highly conserved region of the beta‐amyloid precursor gene in a single case of schizophrenia. Although the sequence variant may be a natural polymorphism, it is crucial to determine whether the mutation might be present in a small subset of schizophrenics. We isolated DNA from 86 unrelated chronic schizophrenics who had a first degree relative with chronic schizophrenia or chronic schizoaffective disorder. After PCR amplification of exon 17, we were unable to detect the presence of the codon 713 variant in these schizophrenic cases, as well as in 156 controls. Unless additional cases are found with the codon 713 mutation, it is unlikely that the sequence variant is pathogenic for schizophrenia. © 1993 Wiley‐Liss, Inc.
DSM‐III‐R personality disorders in parents of schizophrenic patients
Authors: Dorfman Arlene , Shields Gail , Delisi Lynn E. 
Published: June 2005

AbstractThis study examines the frequency of DSM‐III‐R personality disorders in parents of 58 patients who were admitted consecutively to a New York State psychiatric hospital with a first admission for a schizophrenia‐like psychosis. For comparison, a control group of 65 families were randomly recruited who were in the same age group and denied any psychiatric history in their immediate families. Significantly more parents of the patients had a diagnosed personality disorder than controls. These were classificed as schizoid, schizotypal, histrionic, and sadistic types by DSM‐III‐R criteria. While paranoid personality disorder was frequent, it was equally distributed among both groups of parents. These data suggest that the genetic boundaries to a “schizophrenia spectrum” disorder may extend further than previously thought and particularly the specific characteristics that are common to a wide variety of these disorders need to be examined in further analyses. © 1993 Wiley‐Liss, Inc.
Review of the putative association of dopamine D2 receptor and alcoholism: A meta‐analysis
Authors: Pato Carlos N. , Macciardi Fabio , Pato Michele T. , Verga Massimiliano , Kennedy James L. 
Published: June 2005

AbstractEight recent studies have focused on the putative association of the dopamine D2 receptor (DRD2) gene and alcoholism. In this report, these studies are reviewed and the data and findings are examined in a meta‐analysis. Four reports find a statistically significant increased risk for alcoholism in subjects carrying the A1 allele and 4 failed to observe a significant increase in risk. Overall, our metaanalysis of the results from all 8 studies supported a statistically significant association between the A1 allele of DRD2 and alcoholism, with an apparent increase in relative risk associated with increased severity of alcoholism. These results must be interpreted cautiously because the A1 allele of DRD2 varies significantly in frequency from one population to another. This variability in the population frequency of the A1 allele could result in an apparent association resulting from unrelated population differences. These findings support the need for carefully designed studies that minimize the ethnic heterogeneity of the subject and control populations. © 1993 Wiley‐Liss, Inc.
On attitudes and appreciation 6 months after predictive DNA testing for huntington disease in the Dutch program
Authors: Tibben Aad , Frets Petra G. , van de Kamp Jacques J. P. , Niermeijer Martinus F. , der Vlis Maria Vegtervan , Roos Raymund A. C. , Rooymans Harry G. M. , van Ommen Gert‐Jan B. , Verhage Frans 
Published: June 2005

AbstractWe have studied the 6‐month follow‐up attitudes of 63 individuals, after predictive testing for Huntington disease (HD). Reducing uncertainty (81%) and family planning (60%) were the major reasons for taking the test. Twenty‐four individuals were diagnosed as having an increased risk (± 98%), and 39 a decreased risk (± 2%).Among those with an increased risk, denial or minimization of the ultimate impact of the increased risk result was observed. Most of them (84%) rated their current life situation, at the very least, as being good. Twenty‐one percent of individuals with an increased risk who originally planned to have a family, decided to refrain from having children. Sixty percent of those with increased risk who still wished to have children, would choose to have prenatal testing. In most individuals with increased risk, the test result did not increase the previously expected control over their own future.Half of the partners of persons with increased risk acknowledged the burden of the future disease. Half had no one in whom they could confide. They showed loyalty to the denial and avoidance reactions of their spouses.Half of the individuals with decreased risk denied the impact of the result, as reflected by absence of relief, and emotional numbness. A third of persons with decreased risk experienced involvement with problems of affected relatives.We found that 20% of all participants were discontented with the support given by their general practitioner, who is normally regarded as being the most significant professional for aftercare. Our findings suggest that the perpetuation of psychological defenses, which may temporarily be adequate, may ultimately prevent an individual from taking advantage of being informed. These questions should be further addressed in long‐term follow‐up studies. © 1993 Wiley‐Liss, Inc.
Association of monoamine oxidase (MAO) activity with alcoholism and alcoholic subtypes
Authors: Devor Eric J. , Cloninger C. Robert , Hoffman Paula L. , Tabakoff Boris 
Published: June 2005

AbstractA familial/genetic study of platelet monoamine oxidase (MAO) activity in alcoholics was carried out. MAO activities were determined using phenylethylamine (PEA) as substrate at Km concentration (1.2 μM) and at saturating concentration (12.0 μM). Complex segregation analysis of familial data indicated a single major gene mode of transmission of activity at both substrate concentrations. In addition, the present sample size (13 families, 108 members) proved sufficient to allow correlation analysis of enzyme activity with affection status and clinical subtypes of affecteds. MAO activity was significantly correlated with alcoholism at both Km and saturating substrate concentrations and a significant correlation between low MAO activity and Cloninger Type II alcoholism was seen at Km substrate concentration. These results confirm a hierachical cosegregation of platelet MAO activity and alcoholism suggesting that MAO activity warrants continued status as a marker in alcoholism. © 1993 Wiley‐Liss, Inc.
Rett syndrome associated with tuberous sclerosis in a male and in a female: Evidence for arrested motor and mental development
Authors: Philippart Michel 
Published: June 2005

AbstractTwo sporadic cases of tuberous sclerosis presented with flexion spasms in a male and early intractable seizures evolving into a Lennox–Gastaut syndrome in a female. Early hypotonia and lack of substantial motor development are key features of the Rett syndrome, more easily overlooked than hand‐wringing. Clumsy self‐feeding and immature ambulation were the highest achievements in the second case now aged 36 years. Immaturity rather than degeneration, dementia, or assumed tissue destruction, is the capital feature of many disorders of early brain development leading to profound motor as well as mental retardation. Studying unusual clinical combinations is more likely to shed light on the underlying etiology than focusing on procrustean syndrome definitions. © 1993 Wiley‐Liss, Inc.
Genetic disorders that masquerade as multiple sclerosis
Authors: Natowicz Marvin R. , Bejjani Bassem 
Published: June 2005

AbstractThere are many genetic disorders that have signs and symptoms suggestive of multiple sclerosis and that may easily be overlooked in the evaluation of both adult and pediatric multiple sclerosis patients. The recognition of a genetic disorder as the cause of a patient's “multiple sclerosis” phenotype has important implications not only for the patient, but often also for others in the patient's family who may be at risk for the same disease. We present here a review of single gene disorders that can masquerade as multiple sclerosis. For each disorder, the major clinical and biochemical characteristics are discussed, together with the appropriate testing to screen for and confirm the diagnosis. In addition, guidelines are presented for when to suspect an underlying genetic condition in a patient with a diagnosis of definite or probable multiple sclerosis. The great variety of genetic disorders that can masquerade as multiple sclerosis and the many implications of a genetic diagnosis underscore the importance of recognizing genocopies of multiple sclerosis. © 1994 Wiley‐Liss, Inc.
Walker‐Warburg syndrome: Report of three affected sibs
Authors: Rodgers Benjamin L. , Vanner Lauren V. , Pai G. S. , Sens Mary Anne 
Published: June 2005

AbstractWalker‐Warburg syndrome (WWS) is a lethal, autosomal recessive disorder characterized by Type II lissencephaly, retinal malformation, cerebellar malformation, and congenital muscular dystrophy. We report on 3 sibs with WWS born to a consanguineous couple. The fetal hydrocephalus associated with this syndrome, while not consistent or necessary for diagnosis, is the key manifestation for its prenatal detection. These sibs illustrate the importance of a careful search for associated malformation(s) in a fetus or newborn infant with hydrocephalus and the potential pitfalls of accurate genetic risk estimation in families of such propositi. © 1994 Wiley‐Liss, Inc.
Prenatal diagnosis of Smith–Lemli–Opitz syndrome, type II
Authors: Johnson Judith A. , Aughton David J. , Comstock Christine H. , von Oeyen Paul T. , Higgins James V. , Schulz Rex 
Published: June 2005

AbstractSmith–Lemli–Opitz syndrome, type II (SLOS‐II) is a severe autosomal recessive disorder characterized by a distinctive face, unusual cleft palate, postaxial polydactyly, congenital heart defects, renal anomalies, and male pseudohermaphroditism. We present the first report of prenatal diagnosis of SLOS‐II, as well as an additional report of prenatal detection of multiple anomalies, in which a positive diagnosis of SLOS II was made postanatally. In neither case was the pregnancy known prospectively to be at risk for SLOS‐II. In the former case, targeted sonographic examination at 31 weeks of gestation showed intrauterine growth retardation, atrioventricular septal defect, mesomelic shortening of the arms, small kidneys, overlapping fingers, and female external genitalia; a 46,XY chromosome constitution had been ascertained previously. A provisional diagnosis of SLOS‐II was made prenatally. In the latter case, targeted sonographic examination at 18 weeks of gestation showed severe oligohydramnios, atrioventricular septal defect, and Dandy–Walker malformation. The kidneys and bladder were not visualized. The chromosome constitution was 46,XX. The diagnosis of SLOS‐II was made postnatally. In both cases, additional findings compatible with SLOS‐II were noted postnatally. Prenatal detection of congenital heart defects and renal abnormalities, in combination with certain additional findings (most notably, female external genitalia in the presence of a 46,XY karyotype, polydactyly, disproportionately short limbs, or intrauterine growth retardation) and a normal karyotype, suggests the diagnosis of SLOS‐II, and warrants further investigation. © 1994 Wiley‐Liss, Inc.
Juvenile variant of Schimke immunoosseous dysplasia
Authors: Hashimoto Kazuhiro , Takeuchi Ariko , Ieshima Atsushi , Takada Mitsuyoshi , Kasagi Masaaki 
Published: June 2005

AbstractWe report on a 16‐year‐old girl with spondyloepiphyseal dysplasia, nephrotic syndrome, lymphopenia, and signs of defective cellular immunity. The manifestations are very similar to those reported by Spranger et al. [1991: J Pediatr 119:64–72] as Schimke immunoosseous dysplasia, except for age of onset. In Schimke immunoosseous dysplasia, growth retardations as an initial symptom is noted in early childhood and about 1 year after onset of progressive proteinuria. In our case the skeletal abnormality was noted at age 10 years as dislocation of the hip joints and the diagnosis of nephrotic syndrome was made at age 16 years. The findings strongly suggest that our patient has a juvenile variant of Schimke immunoosseous dysplasia. © 1994 Wiley‐Liss, Inc.