bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal cortical hyperostosis with COL1A1 gene mutation
Authors: Kamoun‐Goldrat Agnès , Martinovic Jelena , Saada Julien , Sonigo‐Cohen Pascale , Razavi Ferechte , Munnich Arnold , Le Merrer Martine 
Published: June 2008

AbstractInfantile cortical hyperostosis (Caffey disease) is benign and self‐limiting when it presents near or after birth but it is usually lethal when it presents earlier. We present the clinical, ultrasonic, radiographic, and pathologic findings in an instructive case of early onset prenatal cortical hyperostosis. The pregnancy of a 21‐year‐old woman was medically terminated at 30 weeks of gestation after a diagnosis of severe osteogenesis imperfecta. Prenatal ultrasounds showed short long bones. Postmortem radiographs showed hyperostosis in long bones, ribs and mandible. The affected skeleton showed marked bony sclerosis and ballooning of the diaphyses of the long bones with periosteal sclerosis. A complete autopsy showed characteristic histologic findings of infantile cortical hyperostosis in affected bones. A missense mutation (3040C → T) in exon 41 the gene encoding the alpha 1 chain of type I collagen was found in fetus pulmonary tissue. Neither the severe form nor the mild form of prenatal cortical hyperostosis were thought to be related to collagen I mutations. Our study indicates that a heterozygous 3040C → T mutation can also be found in lethal prenatal cortical hyperostosis. © 2008 Wiley‐Liss, Inc.
Intracytoplasmic sperm injection (ICSI) with transmission of a ring(Y) chromosome and ovotesticular disorder of sex development in offspring
Authors: Spinner Nancy B. , Saitta Sulagna C. , Delaney Daniel P. , Colliton Raymond , Zderic Stephen A. , Ruchelli Eduardo , Zackai Elaine , Kolon Thomas F. 
Published: June 2008

AbstractWe present a newborn infant with ovotesticular disorder of sex development and sex chromosome mosaicism with a supernumerary ring(Y), and a normal female cell line (47,XXr(Y)[10]/46,XX[40]. The ring (Y) was inherited from the child's father, and was transmitted following assisted reproductive technology and intracytoplasmic sperm injection (ICSI). The father presented with infertility and oligospermia, but cytogenetic analysis had not been carried out as part of the infertility workup. The Y containing cell line had not been seen on amniocentesis, which had shown a 46,XX apparently normal female karyotype in all cells studied. Molecular analysis using polymorphic probes from the X chromosome demonstrated that the 47,XXr(Y) cell line in the child was consistent with inheritance from the father, following meiosis I paternal non‐disjunction. This report underscores the need to obtain chromosome analysis in couples with infertility who undergo assisted reproduction. © 2008 Wiley‐Liss, Inc.
The common inversion of the Williams–Beuren syndrome region at 7q11.23 does not cause clinical symptoms
Authors: Tam Elaine , Young Edwin J. , Morris Colleen A. , Marshall Christian R. , Loo Wayne , Scherer Stephen W. , Mervis Carolyn B. , Osborne Lucy R. 
Published: June 2008

AbstractWilliams–Beuren syndrome (WBS) is caused by a ∼1.5 million base pair deletion at 7q11.23. A common inversion of the region, WBSinv‐1, exists as a polymorphism but was also found in individuals with WBS‐like features but no deletion, suggesting it could cause clinical symptoms. We performed a full clinical, developmental and genetic assessment of two previously reported individuals with clinical symptoms and WBSinv‐1 but no 7q11.23 deletion. We also examined expression of genes at 7q11.23 in individuals in the general population who have WBSinv‐1. We show that individuals with clinical symptoms and WBSinv‐1 do not show significant clinical or psychological overlap with individuals with WBS. In addition, a 1.3 Mb duplication of part of the velocardiofacial syndrome region on chromosome 22q11.2 was found in one participant with WBSinv‐1 and clinical symptoms. We also demonstrate that individuals with WBSinv‐1 show normal expression of genes from the WBS region. These results suggest that WBSinv‐1 does not cause clinical symptoms and we advise caution when diagnosing individuals with atypical presentation of rare syndromes. Whole genome analysis may reveal previously unidentified copy number variants that could contribute to syndromic features. © 2008 Wiley‐Liss, Inc.
Native American myopathy: Congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia
Authors: Stamm Demetra S. , Aylsworth Arthur S. , Stajich Jeffrey M. , Kahler Stephen G. , Thorne Leigh B. , Speer Marcy C. , Powell Cynthia M. 
Published: June 2008

AbstractNative American myopathy (NAM) [OMIM 255995], a putative autosomal recessive disorder, was first reported in the Lumbee Indians of North Carolina. NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia. This report documents the phenotypic complexity and natural history of this rare congenital disorder in fourteen individuals with NAM. Findings include a previously unreported 36% mortality by age 18. Based on this study, our conservative estimate for prevalence of NAM within the Lumbee population is ∼2:10,000; however, birth incidence remains unknown. © 2008 Wiley‐Liss, Inc.
A new osteogenesis imperfecta with improvement over time maps to 11q
Authors: Kamoun‐Goldrat Agnès , Pannier Stéphanie , Huber Céline , Finidori Georges , Munnich Arnold , Cormier‐Daire Valérie , Le Merrer Martine 
Published: June 2008

AbstractOsteogenesis imperfecta (OI) is basically divided into four clinical types, I–IV. Type IV clearly represents a heterogeneous group of disorders. Here we describe two OI patients in the same family. They would typically be classified as having type IV, but are distinguishable from other OI type IV patients by the improving and resolving course of their disease. Mutation screening did not identify mutations affecting glycine codons or splice sites in the coding regions of the two collagen I genes. Genome‐wide screening of DNA samples from the two homozygous patients identified one region of high concordance of homozygosity on chromosome 11 on the long arm (11q23.3–11q24.1). © 2008 Wiley‐Liss, Inc.
Humero‐radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs
Authors: Guilherme Romain , Baumann Clarisse , Garel Catherine , Huten Yolène , Oury Jean‐François , Delezoide Anne‐Lise 
Published: June 2008

AbstractWe report on two male sib fetuses with humero‐radial synostosis and thumb hypoplasia, microcephaly with simplified gyral pattern, short corpus callosum and ambiguous genitalia. The main clinical, anatomopathological and imaging findings are presented and compared with previous cases of humero‐radial synostosis as a prominent manifestation and with the X‐linked lissencephaly with ambiguous genitalia syndrome (X‐LAG). To our knowledge, this combination of anomalies has never been described before, and we propose that this disorder comprises a new humero‐radial synostosis syndrome with an autosomal recessive or X‐linked pattern of inheritance. © 2008 Wiley‐Liss, Inc.
Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy
Authors: Kantarci Sibel , Ragge Nicola K. , Thomas N. Simon , Robinson David O. , Noonan Kristin M. , Russell Meaghan K. , Donnai Dian , Raymond F. Lucy , Walsh Christopher A. , Donahoe Patricia K. , Pober Barbara R. 
Published: June 2008

AbstractDonnai–Barrow syndrome [Faciooculoacousticorenal (FOAR) syndrome; DBS/FOAR] is a rare autosomal recessive disorder resulting from mutations in the LRP2 gene located on chromosome 2q31.1. We report a unique DBS/FOAR patient homozygous for a 4‐bp LRP2 deletion secondary to paternal uniparental isodisomy for chromosome 2. The propositus inherited the mutation from his heterozygous carrier father, whereas the mother carried only wild‐type LRP2 alleles. This is the first case of DBS/FOAR resulting from uniparental disomy (UPD) and the fourth published case of any paternal UPD 2 ascertained through unmasking of an autosomal recessive disorder. The absence of clinical symptoms above and beyond the classical phenotype in this and the other disorders suggests that paternal chromosome 2 is unlikely to contain imprinted genes notably affecting either growth or development. This report highlights the importance of parental genotyping in order to give accurate genetic counseling for autosomal recessive disorders. © 2008 Wiley‐Liss, Inc.
Czech dysplasia: Report of a large family and further delineation of the phenotype
Authors: Tzschach Andreas , Tinschert Sigrid , Kaminsky Elke , Lusga Eugen , Mundlos Stefan , Graul‐Neumann Luitgard M. 
Published: June 2008

AbstractCzech dysplasia (OMIM 609162) is a recently delineated COL2A1 disorder characterized by early‐onset progressive pseudorheumatoid arthritis, platyspondyly, short third and fourth metatarsals, normal height, and the absence of ophthalmological problems or cleft palate. Czech dysplasia is caused by a specific missense mutation (R275C, c.823C > T) in the triple helical domain of the COL2A1 gene. We report on a large family with 11 patients with typical Czech dysplasia and sensorineural hearing loss. Hearing loss has hitherto not been considered as a major manifestation of Czech dysplasia. Mutation analysis documented the COL2A1 c.823C > T (R275C) mutation in all affected individuals. Thus, Czech dysplasia is possibly caused exclusively by the R275C mutation, which is a unique situation among the COL2A1 disorders. The family provides further evidence for the remarkably uniform manifestation of the clinical and radiological abnormalities and adds hearing loss to the list of major anomalies of Czech dysplasia. © 2008 Wiley‐Liss, Inc.
Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome
Authors: Bélien Valérie , Gérard‐Blanluet Marion , Serero Stéphane , Le Dû Nathalie , Baumann Clarisse , Jacquemont Marie‐Line , Dupont Céline , Krabchi Kada , Drunat Séverine , Elbez Annie , Janaud Jean‐Claude , Benzacken Brigitte , Verloes Alain , Tabet Anne‐Claude , Aboura Azzedine 
Published: June 2008

AbstractSmall supernumerary marker chromosomes are present in about 0.05% of the human population. In approximately 28% of persons with these markers (excluding the ∼60% derived from one of the acrocentric chromosomes), an abnormal phenotype is observed. We report on a 3‐month‐old girl with intrauterine growth retardation, craniofacial features, hypotonia, partial coloboma of iris and total anomalous pulmonary venous return. Cytogenetic analysis showed the presence of a supernumerary marker chromosome, identified by fluorescence in situ hybridization as part of chromosome 22, and conferring a proximal partial trisomy 22q22.21, not encompassing the DiGeorge critical region (RP11–154H4 + , TBX1‐). This observation adds new information relevant to cat eye syndrome and partial trisomy of 22q. © 2008 Wiley‐Liss, Inc.
Filippi syndrome: Further clinical characterization
Authors: Battaglia Agatino , Filippi Tiziana , Pusceddu Silvia , Williams Charles A. 
Published: June 2008

AbstractWe report on a child with Filippi syndrome who shows syndactyly of fingers and toes, severe pre‐ and post‐natal growth retardation, postnatal microcephaly, epilepsy, and severe mental retardation with speech impairment. Standard cytogenetics, CGH microarray, and molecular analysis of the GJA1 (Cx43) gene coding region were normal. We review the literature and provide additional information delineating the genetic and neurological aspects of the syndrome. © 2008 Wiley‐Liss, Inc.
Sensorineural deafness, distinctive facial features, and abnormal cranial bones: A new variant of Waardenburg syndrome?
Authors: Gad Alona , Laurino Mercy , Maravilla Kenneth R. , Matsushita Mark , Raskind Wendy H. 
Published: June 2008

AbstractThe Waardenburg syndromes (WS) account for approximately 2% of congenital sensorineural deafness. This heterogeneous group of diseases currently can be categorized into four major subtypes (WS types 1–4) on the basis of characteristic clinical features. Multiple genes have been implicated in WS, and mutations in some genes can cause more than one WS subtype. In addition to eye, hair, and skin pigmentary abnormalities, dystopia canthorum and broad nasal bridge are seen in WS type 1. Mutations in the PAX3 gene are responsible for the condition in the majority of these patients. In addition, mutations in PAX3 have been found in WS type 3 that is distinguished by musculoskeletal abnormalities, and in a family with a rare subtype of WS, craniofacial‐deafness‐hand syndrome (CDHS), characterized by dysmorphic facial features, hand abnormalities, and absent or hypoplastic nasal and wrist bones. Here we describe a woman who shares some, but not all features of WS type 3 and CDHS, and who also has abnormal cranial bones. All sinuses were hypoplastic, and the cochlea were small. No sequence alteration in PAX3 was found. These observations broaden the clinical range of WS and suggest there may be genetic heterogeneity even within the CDHS subtype. © 2008 Wiley‐Liss, Inc.
Congenital heart defects in patients with oculo‐auriculo‐vertebral spectrum (Goldenhar syndrome)
Authors: Digilio M. Cristina , Calzolari Flaminia , Capolino Rossella , Toscano Alessandra , Sarkozy Anna , de Zorzi Andrea , Dallapiccola Bruno , Marino Bruno 
Published: June 2008

AbstractThe oculo–auriculo–vertebral spectrum (OAVS) is a non‐random association of microtia, hemifacial microsomia with mandibular hypoplasia, ocular epibulbar dermoid, and cervical vertebral malformations. Congenital heart defects (CHDs) have been reported in 5–58% of the patients. We analyze the frequency and anatomic features of CHD in a series of 87 patients with OAVS examined between January 1990 and February 2007 with normal chromosomes, ranging in age between 0.1 and 16.8 years. A twin pregnancy occurred in eight cases (dizygotic in six cases and monozygotic in two). CHDs were diagnosed in 28/87 (32%) patients, and classified into categories of postulated developmental mechanisms including 9 (32%) atrial and ventricular septal defects, 11 (39%) conotruncal defects, 4 (14%) targeted growth defects, two (7%) with situs and looping defects, one (4%) with a left‐sided obstructive lesion and one (4%) with patent ductus arteriosus. As noted in other series, the most common individual CHDs were ventricular septal defect (six patients) and tetralogy of Fallot (TOF) (classic or with pulmonary atresia) (six patients). Comparing the frequencies of CHDs groups observed in the OAVS patients with the findings of the Emilia‐Romagna Registry which ascertained CHDs prevalence in the general population, conotruncal defects, targeted growth defects, and heterotaxia were significantly associated with OAVS. © 2008 Wiley‐Liss, Inc.
Mycophenolate mofetil embryopathy may be dose and timing dependent
Authors: Ang Ghee Soon , Simpson Sheila A. , Reddy Aravind R. 
Published: June 2008

AbstractMycophenolate mofetil (MMF) is an immunosuppressive agent that has now been recognized as teratogenic in humans. A pattern of malformations from in utero exposure to MMF has recently been described, and includes cleft lip and palate, microtia and atresia of the external auditory canal. We present a nulliparous mother who had taken MMF for recurrent erythema multiforme for the first 5 weeks of her pregnancy, and developed a spontaneous miscarriage during the seventh week of pregnancy. For her second pregnancy, she took MMF on her own accord for four days in the seventh week after her last menstrual period. The newborn had bilateral microtia, absence of the external auditory canals, and right iris and chorioretinal coloboma, consistent with the pattern recognized as part of the MMF embryopathy phenotype. As the newborn was not exposed to other immunosuppressive agents in utero, we believe that the phenotype described to be the result of the teratogenic effect of MMF. The spontaneous miscarriage in the first pregnancy may be due to the higher dose and longer duration of MMF exposure. The second pregnancy, with MMF exposure of 4 days, proceeded to term with the resultant phenotype. We conclude that the effect and severity of the embryopathy may be dependent on the dose, timing, and duration of MMF exposure. The manufacturer and the United States Food and Drug Administration have now disseminated information regarding the teratogenic risk of MMF. Women should be fully counseled and advised about contraception during the course of treatment with MMF. © 2008 Wiley‐Liss, Inc.
Genetic heterogeneity in ADHD: DAT1 gene only affects probands without CD
Authors: Zhou Kaixin , Chen Wai , Buitelaar Jan , Banaschewski Tobias , Oades Robert D. , Franke Barbara , Sonuga‐Barke Edmund , Ebstein Richard , Eisenberg Jacques , Gill Michael , Manor Iris , Miranda Ana , Mulas Fernando , Roeyers Herbert , Rothenberger Aribert , Sergeant Joseph , Steinhausen Hans‐Christoph , Lasky‐Su Jessica , Taylor Eric , Brookes Keeley J. , Xu Xiaohui , Neale Benjamin M. , Rijsdijk Fruhling , Thompson Margaret , Asherson Philip , Faraone Stephen V. 
Published: June 2008

AbstractPrevious studies have found heterogeneous association between DAT1‐3′‐UTR‐VNTR and attention deficit hyperactivity disorder (ADHD). Various proportions of conduct disorder (CD) comorbidity in their ADHD samples may partially explain the observational discrepancies. Evidence for this comes from family and twin studies which found ADHD probands with CD (ADHD + CD) are genetically different from those without CD (ADHD − CD). Genotypes of 20 DAT1 markers were analyzed in 576 trios, consisting of 141 ADHD + CD and 435 ADHD − CD. In addition to the classical TDT test, a specific genetic heterogeneity test was performed to identify variants that have different transmission patterns in the two phenotypic subgroups. After multiple‐test correction, rs40184 and rs2652511 were significant in TDT tests. Further heterogeneity test found the two SNPs had a significant transmission pattern difference between ADHD + CD and ADHD − CD children, indicating that DAT1 has a significantly greater genetic influence on ADHD without CD. Although the result needs further replications, it does highlight the importance of selecting genetically homogeneous samples for molecular genetic analyses of ADHD. © 2007 Wiley‐Liss, Inc.
Age estimation of adolescent and young adult male and female skeletons II, epiphyseal union at the upper limb and scapular girdle in a modern Portuguese skeletal sample
Authors: Cardoso Hugo F.V. 
Published: June 2008

AbstractThis study completes previously reported ages for timing of epiphyseal union in the postcranial skeleton in a recent sample, with data from the scapula, clavicle, humerus, radius, and ulna. A sample of 121 individuals between the ages of 9 and 29 (females = 65, males = 56) was derived from the Lisbon documented skeletal collection. Epiphyseal union was scored at 16 anatomical locations, using a three‐stage scheme: 1) no union; 2) partial union; and 3) completed union, all traces of fusion having disappeared. In the upper limb, the epiphyses of the elbow are the first to fuse at around 11 to 15 years of age, followed by those of the shoulder and wrist. In the scapular girdle, the coracoid area is the first to fuse, followed by the glenoid surface and remaining epiphyses, with the medial clavicle fusing last, by the age of 25–27. There is a sex difference in maturation, with females showing an advance relative to males of about 2 years in the upper limb. Sex differences in maturation are less noticeable in the scapular girdle, but data suggest that females are also ahead of males. Results suggest overall similar age ranges for stages of union as previous dry bone observations, but some studies show significant divergences which seem to derive from methodological issues. Although some radiographic reference standards provide comparable age ranges, they should probably be avoided when aging skeletal remains. Am J Phys Anthropol, 2008. © 2008 Wiley‐Liss, Inc.
Spina Bifida Research Resource: Study design and participant characteristics
Authors: Mitchell Laura E. 
Published: June 2008

AbstractBACKGROUND:Myelomeningocele is a common serious malformation. In the majority of affected individuals, it is believed to be nonsyndromic and determined by the effects of multiple genetic and nongenetic factors.METHODS:The Spina Bifida Research Resource (SBRR) is an ongoing, family‐based study, designed to identify maternal and embryonic genes related to myelomeningocele. Families that include at least one individual with myelomeningocele are eligible to participate in the SBRR. Recruitment into the SBRR has occurred in two phases. Descriptive analyses were undertaken to characterize the case individuals enrolled in Phase 1. In addition, the characteristics of subgroups of case individuals, defined by lesion level, were compared.RESULTS:During Phase 1, 671 families including 683 case individuals were enrolled. Families in which the case individual(s) were known or suspected to have a recognized pattern of malformations and families that did not complete the study interview were excluded from the present analyses. The case individuals in the remaining families (n = 534) were predominantly female (53%) and non‐Hispanic Caucasian (87%), and in the majority (74%) the highest level of the lesion was in the lumbar region. Differences in the characteristics of the case individuals with lumbar and thoracic level lesions were detected.CONCLUSIONS:This article provides details regarding study design, recruitment, and data collection, and the characteristics of the SBRR Phase 1 study population. The data available from the SBRR, in combination with a rapidly evolving understanding of the variation within the human genome, provide an unprecedented opportunity to explore the genetic contribution to myelomeningocele. Birth Defects Research (Part A) 2008. © 2008 Wiley‐Liss, Inc.
Periconceptional use of weight loss products including ephedra and the association with birth defects
Authors: Bitsko Rebecca H. , Reefhuis Jennita , Louik Carol , Werler Martha , Feldkamp Marcia L. , Waller D. Kim , Frias Jaime , Honein Margaret A. 
Published: June 2008

AbstractBACKGROUND:Weight loss products are frequently used by reproductive‐aged women and these products may be taken (inadvertently or intentionally) during pregnancy. This study assessed the association between periconceptional use of weight loss products and major structural birth defects.METHODS:Mothers of infants with birth defects (case infants) and a random sample of livebirths (control infants) born during the period 1998–2003 in 10 states participated in the National Birth Defects Prevention Study. Adjusted ORs (aORs) for the association between self‐reported use of weight loss products and 23 categories of birth defects were calculated.RESULTS:Mothers of control infants (2.4%) and 2.6% of mothers of case infants reported periconceptional use of weight loss products; 1.2% of mothers of control infants and 1.3% of mothers of case infants reported using an ephedra‐containing product. Use of any weight loss product was associated with anencephaly (aOR 2.6; 95% CI: 1.3–5.3), dextro‐transposition of the great arteries (aOR 2.1; 95% CI: 1.1–4.3), and aortic stenosis (aOR 3.4; 95% CI: 1.5–7.9). Use of products containing ephedra showed an increased aOR with anencephaly (aOR 2.8; 95% CI: 1.0–7.3), while other weight loss products were associated with dextro‐transposition of the great arteries (aOR 1.8; 95% CI: 1.2–2.7), and aortic stenosis (aOR 2.1; 95% CI: 1.3–3.5).CONCLUSIONS:These results suggest an association between periconceptional use of weight loss products and certain birth defects but the possible mechanism is not clear. This is the first finding of such an association and, because we examined a large number of exposure‐outcome associations in a hypothesis‐generating analysis, these results might have been due to chance. Birth Defects Research (Part A) 2008. © 2008 Wiley‐Liss, Inc.