bluuebunny/crossref_metadata_2025_split huggingface dataset:
Distinctive autosomal or X‐linked dominant syndrome of microcephaly, mild developmental delay, short stature, and distinctive face
Authors: Winter R. M. 
Published: June 2005

AbstractWe report on a mother and two sons with a syndrome of microcephaly, short stature, a distinctive face, broad thumbs and great toes, and mild developmental delay. There are similarities to the patients reported by Bawle and Horton [Am J Med Genet 33:382–384, 1989] and Evans [Clin Genet 39:178–180, 1991] but it is not certain whether the patients have the same condition. Inheritance could either be autosomal or X‐linked dominant. © 1993 Wiley‐Liss, Inc.
Clinical variability within Brachmann‐de Lange syndrome: A proposed classification system
Authors: van Allen Margot I. , Filippi Giorgio , Siegel‐Bartelt Jacqueline , Yong Siu‐Li , McGillivray Barbara , Zuker Ron M. , Smith Charles R. , Magee J. F. , Ritchie Susan , Toi Ants , Reynolds James F. 
Published: June 2005

AbstractSeven patients, including two sibs, with the Brachmann‐de Lange syndrome (BDLS) are presented as representative of the different types of BDLS in a proposed classification system. Type I (“classic”) patients have the characteristic facial and skeletal changes of BDLS using the criteria in the diagnostic index of Preus and Rex. Type I is distinguished from the other subtypes by prenatal growth deficiency (< 2.5 S.D. below mean for gestation) becoming more severe postnatally (< 3.5 S.D. below the mean), moderate to profound psychomotor retardation, and major malformations which result in severe disability or death.Type II (“mild”) BDLS patients have similar facial and minor skeletal abnormalities to those seen in type I; however, these changes may develop with time or may be partially expressed. Patients with type II BDLS are distinguished from those with other types by mild to borderline psychomotor retardation, less severe pre‐and postnatal growth deficiency, and the absence of (or loss severe) major malformations. Behavioral problems can be a significant clinical problem in type II BDLS.Type III (“phenocopies”) BDLS includes patients who have phenotypic manifestations of BDLS which are causally related to chromosomal aneuploidies or teratogenic exposures. © 1993 Wiley‐Liss, Inc.
Mild Brachmann‐de Lange syndrome. Delineation of the clinical phenotype, and characteristic behaviors in a six‐year‐old boy
Authors: Bay Carolyn , Mauk Joyce , Radcliffe Jerilynn , Kaplan Paige 
Published: June 2005

AbstractBrachmann‐de Lange syndrome (BDLS) is a rare/multiple congenital anomaly/mental retardation (MCA/MR) syndrome with variable expression, making diagnosis of mild cases difficult. The most consistent manifestations appear to be the characteristic face, which can be subtle in children who are mildly affected [Ireland and Burn, 1991: Twelfth Annual David W. Smith Workshop on Malformations and Morphogenesis]. Other aspects of the syndrome include variable degrees of mental retardation, growth retardation, structural abnormalities of the limbs, and behavior abnormalities, noted to be “autistic” [Jones, 1988: “Smith's recognizable patterns of human malformation”]. Johnson et al. [1976: Pediatr Res 10:843–850] described a behavior phenotype felt to be common in patients with BDLS. They predicted that patients with BDLS may respond to “behavioral intervention”. Other behavior abnormalities in BDLS have been reported [Barr et al., 1971: Neurop̈adiatrie 3:46–66; Hawley et al., 1985: Am J Med Genet 20:453–459].We report on a 6‐year‐old boy with the facial characteristics of BDLS, normal birth weight, prenatal onset of a small head relative to length, postnatal onset growth deficiency, nearly normal psychomotor development with onset of clear developmental delays by 2 years. He developed behavior problems similar to those seen in other patients with BDLS. These behaviors are most consistent with Pervasive Development Disorder‐NOS (PDD), and Autistic Disorder [DSM‐III‐R, 1987] which encompasses a spectrum of mild to severe autistic behaviors. We report successful in‐patient care utilizing medical and behavioral techniques to reduce the frequency of the behaviors. We feel that the presence of the characteristic behaviors may be helpful in confirming the diagnosis of BDLS. © 1993 Wiley‐Liss, Inc.
Brachmann‐de Lange syndrome: Diagnostic difficulties posed by the mild phenotype
Authors: Saul Rebert A. , Rogers R. Curtis , Phelan Mary C. , Stevenson Roger E. 
Published: June 2005

AbstractWe described 4 patients with facial changes of Brachmann‐de Lange syndrome but without limb defects. Mental retardation ranged from moderate to severe and the degree of Prenatal and postnatal growth deficiency was variable. These patients exemplify the diagnostic difficulties and counseling dilemmas posed by the mild Brachmann‐de Lange phenotype. The relationship of the mild phenotype to the full syndrome will not be understood until the pathogenetic or causal factor(s) are delineated. © 1993 Wiley‐Liss, Inc.
Radiological features in Brachmann‐de Lange syndrome
Authors: Braddock Stephen R. , Lachman Ralph S. , Stoppenhagen Cathy Charman , Carey John C. , Ireland Maggie , Moeschler John B. , Cunniff Christopher , Graham John M. 
Published: June 2005

AbstractBrachmann‐de Lange syndrome (BDLS) is a well‐delineated disorder consisting variably of pre‐ and postnatal growth deficiency, microbrachycephaly, characteristic face, hypertrichosis, visceral anomalies, and limb defects consisting primarily of variable limb reduction defects, micromelia, and elbow abnormalities. The course is usually marked by initial hypertonicity, low‐pitched weak cry, feeding problems, and behavioral problems with marked mental deficiency. In classical cases there is rarely any difficulty in making the diagnosis but for mildly affected cases, it may be difficult to feel secure about the diagnosis. In an effort to increase the precision of diagnosis for mildly affected cases, we reviewed roentgenograms in 21 cases of Brachmann‐de Lange syndrome, as well as previously published descriptions of the radiological manifestations. Unusual radiologic manifestations were related primarily to the limb anomalies, and these were often asymmetric. These manifestations included digital abnormalities, which ranged from acheiria to oligodactyly, hypoplasia of the thumb and first metacarpal, clinodactyly of the fifth finger, or ectrodactyly. Long bone abnormalities included ulnar a/hypoplasia, dysplasia of the radial head, or fusion of the elbow. When there was a single forearm bone, there was often fusion at the elbow and oligodactyly, which made it difficult to determine whether the radius or ulna was absent. Other radiologic manifestations included 13 ribs with precocious sternal fusion, and micrognathia. We suggest that these radiologic manifestations could increase diagnostic precision in mildly affected cases. © 1993 Wiley‐Liss, Inc.
Occurrence of the Sandifer complex in the Brachmann‐de Lange syndrome
Authors: Sommer Annemarie 
Published: June 2005

AbstractGastroesophageal reflux is a common occurrence in infancy. The most severe complications of reflux include torticollis, opisthotonus, and paroxysmal dystonic posture (known as rhe Sandifer complex). We examined 17 patients now ranging in age from 9 months to 19 years (mean age 11 years) with the Brachmann‐de Lange syndrome for evidence of gastroesophageal reflux and found that 13 had not only reflux, but also posturing and behavior consistent with the Sandifer complex. We propose that early recognition of gastroesophageal reflux in these patients may prevent the full picture of the Sandifer complex and allow for medical treatment rather than surgical intervention. © 1993 Wiley‐Liss, Inc.
Growth manifestations in the Brachmann‐de Lange syndrome
Authors: Kline Antonie D. , Barr Marie , Jackson Laird G. 
Published: June 2005

AbstractWe have obtained serial measurements on 180 patients with clinically confirmed Brachmann‐de Lange syndrome (BDLS) in order to derive standard growth curves. The patients were evaluated in our genetics department and through meetings of the Cornelia de Lange Syndrome Foundation, a support group for families of affected individuals. The data were obtained from the records of pediatricians, other physicians, schools and parents, as well as from personal examination on each of these patients at least once, often periodically. The growth curves include height, weight and head circumference measurements from birth through adulthood. Prenatal growth and birth weights are below the 5th centile in most (68%) cases, with an average birth weight of 2,277 g. Growth persists below the normal curves in most of the patients throughout life. Height velocity is equal to the normal range but there is slower pubertal growth. Weight velocity is below the normal range throughout life until late adolescence. Average head circumference remains below the second centile. Thin body habitus coupled with slow growth and proportionate small stature is a manifestation of the syndrome, but is commonly mistaken for failure to thrive. © 1993 Wiley‐Liss, Inc.
Physical growth in Brachmann‐de Lange syndrome
Authors: Kousseff Boris G. , Thomson‐Meares Joanne , Newkirk Patricia , Root Allen W. 
Published: June 2005

AbstractGrowth in 30 patients with Brachmann‐de Lange syndrome (BDLS) was evaluated and found to be deficient in 27/30, with 17/27 having intrauterine growth retardation (IUGR). In 12/27 Patients, endocrine evaluations have been completed. Seven of 12 were normal and 4/12, one with empty sella, had “classical” growth hormone deficiency with extreme short stature, markedly delayed skeletal maturation and subnormal growth hormone secretion in response to provocative stimuli. One of 12 patients had discordance between insulin growth factor I levels and growth hormone responses to insulin and clonidine suggestive of end organ resistance to growth harmone. It appears that the hypothalmamic‐pituitary function is compromised in at least some BDLS patients. Thus, endocrine evaluations are warranted for the patients with short stature. © 1993 Wiley‐Liss, Inc.
Autopsy findings in a severely affected infant with a 2q terminal deletion
Authors: Waters Brenda L. , Allen Elizabeth F. , Gibson Pamela C. , Johnston Troy 
Published: June 2005

AbstractWe describe a 37‐week gestation female infant who was born with a terminal 2q deletion. Both of her parents had normal chromosomes. This infant had multiple anomalies, including hypertelorism, short palpebral fissures, microphthalmia, cleft lip/cleft palate, and abnormal ears. Autopsy documented Dandy‐Walker malformation with severe hydrocephalus, aortopulmonary window, secundum atrial septal defect, duodenal atresia, incomplete rotation of the bowel, gonadal dysgenesis, uterus didelphys, and musculoskeletal defects. Compared with the other 6 children with 2q terminal deletion documented in the literature, this patient is the most severely affected. This patient is also the only one documented to have died and undergone autopsy examination. The findings in this case provide more data for the eventual description of a “terminal 2q deletion syndrome” and suggest that some abnormalities, such as gonadal dysgenesis, may be present in living children with this chromosome abnormality. © 1993 Wiley‐Liss, Inc.
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: Review and gene assignment to the interface of band 3q22.3 and 3q23
Authors: Jewett Tamison , Rao P. Nagesh , Weaver R. Grey , Stewart William , Thomas Ioan T. , Pettenati Mark J. 
Published: June 2005

AbstractWe report on a child with blepharophimosis, ptosis, and epicanthus inversus (BPES), developmental delay and an interstitial deletion of band q22 of chromosome 3. A review of chromosome 3q anomalies associated with eye abnormalities, specifically blepharophimosis and ptosis, strongly suggests that a locus for eyelid development is present at the interface of bands 3q22.3 and 3q23. © 1993 Wiley‐Liss, Inc.
Banding resolution of human chromosomes: A method of accuracy and simplicity
Authors: Welbor Jeanna L. , Welborn Roger 
Published: June 2005

AbstractMethods of estimationg chromosome band reolution have been published but their accuracy has not been established Banding resolution was determined by 4 methods which included a computerized linear correlation, the sum of bands on chromosomes 1 and 2, interpolation of the number of bands on chromosome 10, and interpolation of the number of bands on chromosomes 1p, 10 11p, 12q, and X. The sum of bands on chomosomes 1 and 2 multiplied by 6 is the most accurate and simple. The use of a simple and reliable method is important for cytogenetic laboratories to document quality assurance of routine chromosome analyses, to enhance the exchange of information between laboratories, and to establish criteria for appropriate band resolution for specific types of specimens. © 1993 Wiley‐Liss, Inc.
Oral involvement of recessive dystrophic epidermolysis bullosa inversa
Authors: Wright J. Timothy , Fine Jo‐David , Johnson Loraine B. , Steinmetz Todd T. 
Published: June 2005

AbstractThe inversa subtype of autosomal recessive dystrophic epidermolysis bullosa (EBDR‐I) is a rare variant characterized by lesions involving primarily the flexural areas of the body. The purpose of this investigation was to characterize the oral manifestations of this unusual dermatologic condition. Ten individuals having EBDR‐I were evaluated and compared with an age and sex‐matched population of unaffected individuals that served as controls. The diagnosis of EBDR‐I was confirmed by skin biopsy that demonstrated tissue separation below the lamina densa and the clinical presentation of blister formation that typically localized to flexural areas. There was clinical variability in the severity and distribution of skin involvement; however, none of the affected individuals demonstrated pronounced digital webbing, severe generalized blistering or growth retardation characteristic of the Hallopeau‐Siemens form of EBDR. Oral involvement was seen in all cases with ankyloglossia, loss of tongue papillae and obliteration of the oral vestibule between the lips and gingiva being typical. The oral opening was significantly reduced in older EBDR‐I individuals compared with matched controls, conforming that acquired microstomia is a charactorstic of EBDR‐I. The teeth were not clinically abnormal or malformed and showed no evidence of generalized enamel hypoplasia. Despite this, the prevalence of dental caries in EBDR‐I individuals was significantly higher than the control group. The inversa form of EBDR presents with oral findings that are similar but generally milder than those seen in the Hallopeau‐Siemens variant of EBDR. © 1993 Wiley‐Liss, Inc.
Presymptomatic DNA‐testing for Huntington disease: Pretest attitudes and expectations of applicants and their partners in the Dutch program
Authors: Tibben Aad , Frets Petra G. , van de Kamp Jacques J. P. , Niermeijer Martinus F. , Vegter‐van der Vlis Maria , Roos Raymund A. C. , van Ommen Gert‐Jan B. , Duivenvoorden Hugo J. , Verhage Frans 
Published: June 2005

AbstractWe studied the baseline attitudes, prior to testing, of 70 applicants at risk for Huntington disease (HD) and their partners in the Dutch presymptomatic DNA‐testing program. Two thirds of the applicants were female; 36% already had children. The main reason (60%) for undertaking the test was for family planning. Other reasons were either to reduce uncertainty (43%) or to obtain certainty (38%). Partners of applicants stated that planning for the future was for them the most important reason (76%). Significantly more at‐risk females (42%) than males (16%) anticipated an unfavorable test outcome. Quite remarkably, most applicants and partners denied that a positive result might have adverse effects on either personal mood, quality of life, or marriage. Only a few did not expect that a favorable result would induce relief. The eventual outcome of the test was expected to enable applicants to gain control over their future, whatever the result. Hence, we propose that the applicants form a self‐selected group, based on their expectation that they will not be emotionally affected by either result. © 1993 Wiley‐Liss, Inc.
Legal and ethical issues in psychiatric genetic research
Authors: Shore David , Berg Kate , Wynne Debra , Folstein Marshal F. 
Published: June 2005

AbstractGenetic research may uncover the causes of severe mental disorders, and many projects have been undertaken to locate the genes responsible for schizophrenia, bipolar disorder, and Alzheimer disease. A number of sensitive legal and ethical issues have been raised, including 1) protection of confidential data concerning research subjects; 2) the assessment of types and degree of risk to subjects who participate in such studies; 3) the legal and ethical acceptability of substituted judgment on behalf of patients who may not be competent to provide informed consent; and 4) the separation of research and clinical roles in areas such as genetic counseling. Federal regulations and other guidelines are of limited value in dealing with such concerns, and many important human subjects issues will need to be dealt with by the investigator, subject to approval by a local Institutional Review Board. There does seem to be general agreement that informed consent must be obtained, potential risks of research need to be minimized, and confidentiality of sensitive data must be protected. © 1993 Wiley‐Liss, Inc.
Novel association approach for determining the genetic predisposition to schizophrenia: Case‐control resource and testing of a candidate gene
Authors: Sobell Janet L. , Heston Leonard L. , Sommer Steve S. 
Published: June 2005

AbstractWe have developed a two‐tiered approach to elucidating the genetic predisposition to schizophrenia. The approach first involves the examination of candidate genes in a subset of schizophrenic individuals to identify DNA sequence variations of likely functional significance, i.e., that produce either structural alterations in the protein or affect the level of gene expression. Once identified, the prevalence of the aberrant allele is examined in a large group of unrelated schizophrenic cases and controls to assess whether a true disease association exists. Herein, we describe the establishment of a DNA bank on nearly 200 unrelated schizophrenic cases defined by DSM‐III‐R criteria and on over 300 unrelated, ethnically similar controls. Characteristics of the study sample are described. The study approach then is illustrated by testing known mutations in the phenylalanine hydroxylase gene, responsible for the autosomal recessive disease of phenylketonuria, in the case‐control sample to determine if carriership of a mutant allele is associated with an increased risk of schizophrenia. Using PCR amplification of specific alleles (PASA), we screened 190 schizophrenic cases and 336 controls for two common point mutations in the phenylalanine hydroxylase gene. Two carriers were found among the controls, while none of the cases was shown to carry a mutant allele. Thus, carriership of either of two common mutations in the phenylalanine hydroxylase gene does not appear to be associated with an increased risk of schizophrenia. As additional candidate genes are tested in this case‐control resource, adjustment for multiple comparisons will become crucial in order to reduce the chance of false positive findings. The ascertainment of auxillary groups of cases and controls with sequential hypothesis testing in these groups offers a technically feasible solution to the multiple comparisons problem. © 1993 Wiley‐Liss, Inc.
Linkage of familial alzheimer disease to chromosome 14 in two large early‐onset pedigrees: Effects of marker allele frequencies on lod scores
Authors: Nechiporuk A. , Fain P. , Kort E. , Nee L. E. , Frommelt E. , Polinsky R. J. , Korenberg J. R. , Pulst S‐M. 
Published: June 2005

AbstractAlzheimer disease (AD) is a devastating neurodegenerative disease leading to global dementia. In addition to sporadic forms of AD, familial forms (FAD) have been recognized. Mutations in the amyloid precursor protein (APP) gene on chromosome (CHR) 21 have been shown to cause early‐onset AD in a small number of pedigrees. Recently, linkage to markers on CHR 14 has been established in several early‐onset FAD pedigrees. We now report lod scores for CHR 14 markers in two large early‐onset FAD pedigrees. Pairwise linkage analysis suggested that in these pedigrees the mutation is tightly linked to the loci D14S43 and D14S53. However, assumptions regarding marker allele frequencies had a major and often unpredictable effect on calculated lod scores. Therefore, caution needs to be exercised when single pedigrees are analyzed with marker allele frequencies determined from the literature or from a pool of spouses. © 1993 Wiley‐Liss, Inc.
Candidate genes in psychiatry: An epidemiological perspective
Authors: Crowe Raymond R. 
Published: June 2005

AbstractInterest in candidate genes in psychiatry has been revived by the success of that approach in Alzheimer's disease as well as by discouragement over the results to date of searches for linkage. If mutations in candidate genes could be detected directly many of the complexities of searching for them indirectly through linkage could be avoided. As attractive as this approach may sound, mutation searches with candidate genes will introduce a new set of difficulties: the large number and low a priori probability of potential candidate genes virtually guarantees that most positive findings will be false positives. Consequently, if candidate genes are to be systematically studied, procedures need to be established for minimizing and efficiently disconfirming false positive results. © 1993 Wiley‐Liss, Inc.
No association between schizophrenia and homozygosity at the D3 dopamine receptor gene
Authors: Yang Liu , Li Tao , Wiese Claudia , Lannfelt Lars , Sokoloff Pierre , Xu Chong T. , Zeng Zhong , Schwartz Jean‐Charles , Liu Xiehe , Moises Hans W. 
Published: June 2005

AbstractThe D3 dopamine receptor gene is an important candidate gene for schizophrenia, since (because of its almost exclusive expression in the limbic system) it combines the dopamine receptor hypothesis with the limbic system hypothesis of schizophrenia. A BalI restriction fragment length polymorphism of the D3 dopamine receptor gene has been typed in 107 schizophrenic patients and 98 normal controls from Sichuan (China). With regard to alleles or genotypes, no significant differences were obtained between controls from Europe and China, between patients and controls, and between patient subgroups and controls. These results indicate a lack of association between schizophrenia and the D3 dopamine receptor gene in our sample. Our findings are at variance with reports of a significant excess of homozygosity at the D3 dopamine receptor gene in schizophrenic patients from Wales (United Kingdom) and Alsace (France). In conclusion, further studies will be needed with larger samples of patients from Wales and Alsace as well as with samples of different racial groups to prove or disprove the initial positive association between schizophrenia and genotypes of the D3 dopamine receptor gene. © 1993 Wiley‐Liss, Inc.
Lack of association between bipolar affective disorder and tyrosine hydroxylase DNA marker
Authors: Inayama Yasuhiro , Yoneda Hiroshi , Sakai Toshiaki , Ishida Toru , Kobayashi Shin‐Ichi , Nonomura Yasuhiro , Kono Yoshihiro , Koh Jun , Asaba Hiroyuki 
Published: June 2005

AbstractSixty‐eight patients with bipolar affective disorder and 88 controls were investigated for genetic association of tyrosine hydroxylase (TH) restriction fragment length polymorphisms (RFLPs). No significant association between bipolar affective disorder and TH was found. Thus the hypothesis that TH is involved in the pathogenesis of bipolar affective disorder was not supported. © 1993 Wiley‐Liss, Inc.