bluuebunny/crossref_metadata_2025_split huggingface dataset:
Long‐term evaluation of a child with the branchio‐oculo‐facial syndrome
Authors: Schmerler Susan , Kushnick Theodore , Desposito Franklin 
Published: June 2005

AbstractWe report on the 12‐year development of a child with branchio‐oculo‐facial syndrome who was initially referred at age 5 months. Of note is his normal intelligence, regular class placement, hypernasal speech, and continued growth along the third centile. The importance of serial observations of patients with rare genetic disorders is emphasized. © 1992 Wiley‐Liss, Inc.
Portohepatic shunt in a down syndrome patient with an interchange trisomy 47,XY,−2,+der(2),+der(21)t(2;21)(p13;q22.1)mat
Authors: Kieran Mark W. , Vekemans Michel , Robb Laura J. , Sinsky Anna , Outerbridge Eugene W. , Der Kaloustian Vazken M. 
Published: June 2005

AbstractA rare vascular portohepatic anomaly was identified in a Down syndrome patient with a 47,XY,−2,+der(2), + der(21)t(2;21)(p13;q22.1) mat chromosomal complement. This vascular defect involves a direct communication between the right portal vein and the inferior vena cava (IVC). We discuss the possibility that this vascular defect is a rare manifestation in Down syndrome. Alternatively, the existence of these 2 rare events in the same patient raises the possibility that they are causally related. © Wiley‐Liss, Inc.
Familial occurrence of renal and müllerian duct hypoplasia, craniofacial anomalies, severe growth and developmental delay
Authors: Davee Margaret A. , Moore Cynthia A. , Bull Marilyn J. , Hodes M. E. 
Published: June 2005

AbstractAbsence of the kidneys and of the Müllerian structures has been reported in many patients. We report on a brother and sister, born to nonconsanguineous parents, with renal hypoplasia, Müllerian duct hypoplasia, and strikingly similar facial abnormalities. Both sibs have severe growth and developmental retardation. We think that the unique clinical findings in these sibs represent a new syndrome. The embryological and genetic implications of this condition are discussed. © Wiley‐Liss, Inc.
Rambam–Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and bombay phenotype
Authors: Frydman Moshe , Etzioni Amos , Eidlitz‐Markus Tal , Avidor Israela , Varsano Itzhak , Shechter Yael , Orlin Jerome B. , Gershoni‐Baruch Ruth 
Published: June 2005

AbstractWe describe 2 Arab patients, both offspring of unrelated consanguineous matings, with unusual facial appearance, severe mental retardation, microcephaly, cortical atrophy, seizures, hypotonia, dwarfism, and recurrent infections with neutrophilia. Neutrophil motility was markedly decreased but the opsonophagocytic activity was normal. Both patients lack the red blood cell (RBC) H antigen and manifest the Bombay (hh) phenotype. Familial endocardial fibroelastosis and familial tetralogy of Fallot segregated independently in one family. The occurrence of the same syndrome in 2 unrelated families suggests that the various aspects of the disorder are the pleiotropic effects of a single mutation. Homozygosity‐by‐descent for a deletion involving contiguous genes may explain the findings in this syndrome. Alternatively, a mutation which involves an ubiquitous GDP fucose donor rather than the enzyme (α2‐L‐fucosyltransferase) or its substrate (glcNAc) may account for the pleiotropic manifestations in this syndrome. © Wiley‐Liss, Inc.
Innovative approach to genetic counseling services for the deaf population
Authors: Arnos Kathleen Shaver , Cunningham Margaret , Israel Jamie , Marazita Mary L. 
Published: June 2005

AbstractGenetic service providers have stressed the importance of genetic counseling that is nondirective and specific to the personal needs of consultands. Successful genetic counseling for deaf persons often requires special provisions for complex family histories, syndromic conditions, and diversity in communication methods and cultural orientation.The Gallaudet University Genetic Services Center (GSC) was established in 1984 to provide genetic education and counseling services to the deaf community. The GSC staff developed and implemented a standardized system of data collection (family and medical history), clinical evaluation by consultant clinical geneticists, and counseling in sign language. In addition to clinical services, an in‐depth educational program for professionals and consumers was developed and carried out. During a 6‐year period, over 220 educational presentations were made and 659 deaf persons were seen for genetic evaluation and counseling. Most of these persons were self‐referred. Sign language was the preferred means of communication of more than 90% of these individuals. A genetic cause of deafness was diagnosed in over 50% of the deaf consultands and was confirmed by segregation analysis, which had results similar to those reported for other studies of students in schools for the deaf.Special materials and strategies were developed in order to provide genetic services that were sensitive to the cultural and linguistic differences of the deaf population. These included written and visual materials that contained culturally neutral terminology and training of all staff members in sign language and the culture of the deaf. © Wiley‐Liss, Inc.
Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia
Authors: Hecht Jacqueline T. , Blanton Susan H. , Wang Yaping , Daiger Steve P. , Horton William A. , Rhodes Craig , Yamada Yoshihiho , Francomano Clair A. 
Published: June 2005

AbstractPatients with pseudoachondroplasia have a skeletal dysplasia with marked short stature. The most common cause of this condition is an autosomal dominant mutation, although autosomal recessive inheritance has been reported. Linkage to 2 cartilage‐specific candidate genes, type II collagen (COL2A1) and proteoglycan link protein genes (CRTL1), was tested in 9 autosomal dominant families with pseudoachondroplasia. Tight linkage to these candidate genes was excluded with LOD scores for COL2A1 of −2.45 at θ= 0.05 and for CRTL1 of −7.28 at θ= 0.001. Discordant inheritance of the disease phenotype with each of these genes was also observed. Thus, these 2 candidate genes can be excluded as the cause of disease in these families. © Wiley‐Liss, Inc.
Cardiovascular abnormalities in the oculo‐auriculo‐vertebral spectrum (Goldenhar syndrome)
Authors: Morrison J. , Mulholland H. C. , Craig B. G. , Nevin N. C. 
Published: June 2005

AbstractWe describe the phenotypic characteristics of 25 individuals with oculo‐auriculo‐vertebral spectrum (OAVS) and its variants, seen in Northern Ireland between 1969–1989, with special reference to cardiovascular defects. We report the type and prevalence of cardiovascular findings and also estimate the minimum prevalence rate of OAVS to be 1 in 45,000. © Wiley‐Liss, Inc.
Usefulness of a CACA repeat polymorphism in genotype assignments in Duchenne/Becker muscular dystrophy
Authors: Miller Marvin , Boehm Corinne , Cotton Matthew , Kazazian Haig H. 
Published: June 2005

AbstractRFLP analysis in Duchenne/Becker muscular dystrophy (D/BMD) has been limited by the lack of informative marker loci at the 3′ end of the dystrophin gene. Recently a CACA repeat polymorphism was described in the 3′ untranslated end of the dystrophin gene which we have found helpful in genotype assignments of D/BMD families when an RFLP approach is required. The CACA repeat marker has 2 common alleles (1 and 2) that are easily visualized by a nonradioactive PCR method followed by polyacrylamide gel electrophoresis. We present 2 families which demonstrate the use of this polymorphism. Since 35–50% of females are heterozygous, this locus is a useful marker in RFLP analysis of D/BMD families. © Wiley‐Liss, Inc.
Confirmation of a cryptic unbalanced translocation using whole chromosome fluorescence in situ hybridization
Authors: Mewar Reema , Kline Antonie D. , Jackson Laird , Overhauser Joan 
Published: June 2005

AbstractWe report on a 7‐year‐old boy with minor anomalies, growth retardation, and developmental delay with an initial 46,XY,der(18)t(18;?)(q23;?) chromosome constitution. To determine the origin of the additional chromosome segment, several candidate regions were identified including 4q and 18q. Clinical comparison showed more similarities to individuals with partial dup(4q) than to those with a dup(18q). Whole chromosome fluorescence in situ hybridization (FISH) was used to demonstrate the correct origin of the translocated region, clarifying the karyotype as 46,XY,der(18)t(4;18) (q28.2;q22.2), thus generating information of clinical importance. This illustrates the use of whole chromosome FISH to identify chromosome regions that cannot be determined conclusively using standard cytogenetic banding techniques. © Wiley‐Liss, Inc.
Clinico‐pathological conference: A preterm infant with multiple congenital anomalies
Authors: Becerra Mario , Moya Fernando , Lacassie Yves , Stopa Aluizio , Craver Randall 
Published: June 2005

AbstractA preterm female infant (28 weeks; 880 g) presented with bilateral ectrodactyly of the feet, small cleft palate, esophageal atresia and T‐E fistula, multivalvular dysplasia and VSD, thrombocytopenia, and other minor anomalies. Cytogenetic analysis showed trisomy 18. © Wiley‐Liss, Inc.
Craniofacial dysostosis, hypertrichosis, genital hypoplasia, ocular, dental, and digital defects: Confirmation of the Gorlin–Chaudhry–Moss syndrome
Authors: Ippel P. F. , Gorlin R. J. , Lenz W. , van Doorne J. M. , Bijlsma J. B. 
Published: June 2005

AbstractWe report clinical, orofacial and radiological manifestations in a 4‐year‐old girl and a 33‐year‐old female with the Gorlin–Chaudhry–Moss (GCM) syndrome. Typical findings in the GCM syndrome are short stature, stocky body build, midface hypoplasia, small eyes, downslanting palpebral fissures, conductive hearing loss, highly arched and narrow palate, malocclusion, abnormally shaped teeth, oligodontia, microdontia, low scalp hairline, hypertrichosis of scalp, face, trunk and limbs and genital hypoplasia. Radiological features include premature synostosis of the coronal suture, brachycephaly, and maxillary under‐development. Hypoplasia of the distal phalanges of fingers and toes (also present in the 2 original cases) represents a further manifestation of the GCM syndrome. © Wiley‐Liss, Inc.
Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy
Authors: Loesch Danuta Z. , Hay David A. , Sheffield Leslie J. 
Published: June 2005

AbstractWe present a fragile X family with unusual clinical manifestations. These findings, which often occur in the X‐linked FG syndrome, include minor limb anomalies, cleft lip and palate, characteristic facial appearance, gastrointestinal problems and epilepsy, and intellectual disability.In a total sample of 54 fra(X) families, the frequency of minor limb anomalies was estimated to be 32% in the affected males and 19% in the female heterozygotes. These anomalies tend to occur in several members of the same family, where some craniofacial abnormalities reported as characteristic of the FG syndrome have also been encountered. Possible mechanisms for the occurrence of these unusual manifestations in the fra(X) families are discussed. © 1992 Wiley‐Liss, Inc.
Fetal ultrasound abnormalities: Correlation with fetal karyotype, autopsy findings, and postnatal outcome—five‐year prospective study
Authors: Wilson R. D. , Chitayat D. , McGillivray B. C. 
Published: June 2005

AbstractA 5‐year prospective prenatal study in 151 pregnancies with 152 malformed fetuses detected by ultrasound was evaluated cytogenetically. Thirty‐five fetuses (23%) had abnormal karyotypes. Specific anatomical fetal malformations identified by ultrasound increase the risk for fetal chromosome abnormalities. Risks of abnormal chromosomes in the fetus are present with both single and multiple anomalies including amniotic fluid volume although the risk is increased with specific anatomical systems and multiple malformations. An abnormal fetal karyotype was present in 17% with a single anatomical abnormality and 30% when two or more anatomical systems were involved. Fetal hydrops, duodenal atresia, and omphalocele were the most specific single ultrasound anomalies; fetal hydrops, IUGR, holoprosencephaly, congenital heart disease, diaphragmatic hernia, duodenal atresia, and omphalocele were the most specific multiple anomalies with abnormal amniotic fluid volume. Termination of pregnancy occurred in 32/58 patients diagnosed prior to the 20th week of pregnancy with most (31/32) having a chromosomal anomaly or severe fetal anomaly. Fetuses terminated after the 20th week had chromosomal (7/18) or lethal fetal anomalies (11/18). The most common aneuploidies were trisomy 21, trisomy 18, and 45,X. The decision to terminate the pregnancy was based in most cases on the fetal ultrasound findings. Correlation of ultrasound and clinical findings is important for accurate genetic counselling. © 1992 Wiley‐Liss, Inc.
Monozygotic twins concordant for late‐onset probable alzheimer disease with suspected alzheimer disease in four sibs
Authors: Karlinsky H. , Berg J. M. , Lennox A. , Ray P. N. , St. George‐Hyslop P. , Farrer L. A. , Percy M. E. , Andrews D. F. , Atack E. A. 
Published: June 2005

AbstractProbable Alzheimer disease (AD) is described in 79‐year‐old male twins with monozygosity confirmed by DNA examination. The first twin to be affected began to show signs of intellectual deterioration at age 70. In the other, onset was at age 72. Four of their living sibs (current age range = 75–92) are also suspected to have AD. The possible roles of genetic and environmental factors in the development of AD in this sibship are discussed. © 1992 Wiley‐Liss, Inc.
Constriction bands and limb reduction defects in two newborns with fetal ultrasound evidence for vascular disruption
Authors: Van Allen Margot I. , Siegel‐Bartelt Jacqueline , Dixon Joanne , Zuker Ron M. , Clarke Howard M. , Toi Ants 
Published: June 2005

AbstractMost structural anomalies attributed to vascular disruption have been inferred, though not proven, to be the result of disruptive events in utero. We report on 2 pregnancies with ultrasound evidence of disruptive events resulting in terminal limb “reduction” defects with constriction bands and other anomalies. In the first patient a fetal ultrasound study at 12 weeks post‐LMP demonstrated a monochorionic (MC) twin pregnancy with a nonviable co‐twin and no evidence of amniotic bands. At birth, there was a left cleft lip and palate, and terminal limb “reduction” defects with ring constrictions of the left hand and both feet. In the second patient, a routine fetal ultrasound study at 18 weeks post‐LMP identified a subhepatic cyst which subsequently resolved. Fetal ultrasound examination and neonatal computed tomography (CT) scan of the liver were consistent with a hepatic infarct due to emboli from the umbilical vein. At birth, patient 2 had acrosyndactyly of the left hand with ring constrictions of the digits and reduction of the left big toe. There was no evidence of abnormal amnion. Postnatal development has been normal in both cases.We present ultrasound evidence supporting the hypothesis that vascular disruption from death of a co‐twin or from in utero embolic infarcts can cause: (1) terminal limb “reduction” defects and possibly cleft lip and palate; and (2) ring constrictions similar to those of “amniotic band disruption sequence” in the absence of an abnormal amnion. Serial pregnancy ultrasound studies are recommended for evaluation of the development of fetal structural anomalies following ultrasound evidence of a disruptive event in utero. © 1992 Wiley‐Liss, Inc.
Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age
Authors: Kratzer Paul G. , Golbus Mitchell S. , Schonberg Steven A. , Heilbron David C. , Taylor Robert N. 
Published: June 2005

AbstractThe effect of advancing maternal age on the risk of death of fetuses with certain chromosome abnormalities has been tested by comparing their frequency at the time of chorionic villus sampling (CVS) with that at amniocentesis. The frequency of chromosome abnormalities among women whose sole risk factor for a chromosome abnormality was advanced maternal age (≥35 years old) was determined in a pooled group of 15,147 CVS cases, of whom > 1/3 were from the initial 7,500 CVS cases at the University of California, San Francisco, and compared with a pooled group of 74,851 amniocentesis cases collected from the literature. The frequency of trisomy 21 not only increased with advancing maternal age as expected, but the slope of the increase was about 25% greater in the CVS group than in the amniocentesis group (P = 0.08 for the difference in slopes by a logistic statistical model and P = 0.04 by a normit model). Similar patterns were seen for trisomies 18 and 13, but the P values for the differences in slopes were much higher. These results suggest that the miscarriage rate of trisomy 21 during the gestational interval studied is selectively greater with advancing maternal age. The basis for the enhanced selective loss of trisomy 21 with maternal age may be a reduced ability of the ageing “maternal compartment” to compensate for abnormal conceptuses. © 1992 Wiley‐Liss, Inc.
Familial systematized epidermal nevus syndrome
Authors: Meschia James F. , Junkins Edward , Hofman Karen J. 
Published: June 2005

AbstractEpidermal nevi are typically congenital but rarely familial. We report on a family in which 3 relatives have systematized epidermal nevi. The propositus also has evidence of a hemangioma and a hemangioendothelioma. Peripheral blood and skin fibroblast karyotypes of the propositus did not show evidence of mosaicism. Epidermal nevi have been associated with nondermatologic pathology, involving the nervous, vascular, and skeletal systems in sporadic cases. This report demonstrates that nondermatologic pathology can be also be associated with systematized epidermal nevi in a familial setting. The apparent skipping of generations may be explained by autosomal dominant inheritance with decreased penetrance. © 1992 Wiley‐Liss, Inc.
Double‐blind, placebo‐controlled crossover study of folinic acid (Leucovorin®) for the treatment of fragile X syndrome
Authors: Strom Charles M. , Brusca Rita M. , Pizzi William J. 
Published: June 2005

AbstractWe conducted a randomized, double‐blind, placebo‐controlled crossover study of folinic acid therapy (dl‐Leucovorin®, 15 mg/day) or placebo for males with Fragile X (fra(x)) syndrome. Twenty‐one patients were enrolled in the study. The treatment periods were 3 months in length. Patients were followed with chemistry panels and complete blood counts. No differences between placebo and treatment phases were noted in any laboratory parameter. Instruments to measure functioning were the Vineland Adaptive Behavioral Scales, Peabody Picture Vocabulary Test‐Revised, Conners Parent and Teaching Rating Scales, the ADD‐H: Comprehensive Teacher's Rating Scales (ACTeRS), and a questionnaire designed by the investigators. At the crossover point, 2 parents requested to withdraw from the study because they felt their children had made dramatic gains during the first half of the study and had lost those gains after the crossover point. Both parents had accurately predicted that their sons were receiving folinic acid during the first half of the study. However, no statistically significant differences could be demonstrated between the treatment and placebo phases of the study with any instrument when the results were averaged over the entire cohort. After the conclusion of the study, approximately one‐half of the parents believed that their children had benefitted from the folinic acid therapy and elected to continue treatment. Thus far, no significant side effects have been noted from long‐term folinic acid therapy so we are offering all Fragile X patients a 3‐month trial of medication. © 1992 Wiley‐Liss, Inc.
Rapadilino syndrome
Authors: Vargas Fernando Regla , de Almeida José Carlos Cabral , Llerena Juan Clinton , Reis Dimas Fagundes 
Published: June 2005

AbstractWe report on a boy with severe radial hypoplasia, absent thumbs and patellae, short stature, persistent diarrhea, slender nose and normal intelligence as another example of the RAPADILINO syndrome. © 1992 Wiley‐Liss, Inc.
False‐negative prenatal diagnosis of restrictive dermopathy
Authors: Hamel B. C. J. , Happle R. , Steylen P. M. , Kollée L. A. A. , Stekhoven J. H. Schuurmans , Nijhuis J. G. , Rauskolb R. , Anton‐Lamprecht I. 
Published: June 2005

AbstractRestrictive dermopathy is a rare autosomal recessive lethal skin dysplasia. It has been assumed that the characteristic morphologic abnormalities should allow a reliable prenatal diagnosis on fetal skin biopsies at about 20 weeks pregnancy. We report on a false‐negative prenatal diagnosis. © 1992 Wiley‐Liss, Inc.
Hyperphalangism, facial anomalies, hallux valgus, and bronchomalacia: A new syndrome?
Authors: Chitayat David , Haj‐Chahine Souad , Stalker Heather J. , Azouz E. Michael , Côté Aurore , Halal Fahed 
Published: June 2005

AbstractWe report on a boy with hyperphalangism, partial syndactyly, facial anomalies, and diffuse bronchomalacia, born to a nonconsan‐guineous French‐Canadian couple. To our knowledge, this is a hitherto undescribed syndrome. © 1993 Wiley‐Liss, Inc.
Reluctance to undergo predictive testing: The case of Huntington Disease
Authors: Quaid Kimberly A. , Morris Michael 
Published: June 2005

AbstractThe development of a presymptomatic test for Huntington Disease (HD) has enabled some persons at risk to determine whether or not they are gene carriers. The purpose of this study was to explore the reasons why those at risk choose not to be tested in a situation where testing is available and most of the test‐associated costs are covered by state funding. Subjects were also asked their levels of knowledge about testing, attitudes towards aspects of the testing protocols, and intentions towards testing once the gene for HD is found.Sixty‐six individuals at risk for HD who had chosen not to be tested completed a mailed questionnaire. The most important reasons for not being tested were increased risk to children if one was found to be a gene carrier, absence of an effective cure, potential loss of health insurance, financial costs of testing, and the inability to “unndo” the knowledge.Individuals comprising this sample were quite knowledgeable about predictive testing. Most supported the availability of testing despite the lack of a cure, the need for special counseling prior to testing, and the idea that testing should be a voluntary decision. Most said they would take the test if a treatment was available, if the mechanics of the test were simplified, or if the test was 100% accurate.The risk to relatives, lack of treatment or cure, fear of losing one's health insurance, and the accuracy of the information to be gained from testing are important factors in the decision not to be tested. © 1993 Wiley‐Liss, Inc.