bluuebunny/crossref_metadata_2025_split huggingface dataset:
Is visual field reduction a component manifestation of osteopathia striata with cranial sclerosis?
Authors: Clementi Maurizio , Bellato Silvano , Rossetti Alberto , Mammi Isabella , Tenconi Romano 
Published: June 2005

AbstractA girl with fully expressed osteopathia striata with cranial sclerosis (OS) was also found to have a contraction of the two visual fields, a sign never previously described in OS syndrome. We suggest that the visual field defect is a component manifestation of OS syndrome, whose pathogenesis is represented by distortion of the optic canal and narrowing of the optic foramina. © 1993 Wiley‐Liss, Inc.
Chorioretinal dysplasia‐microcephaly‐mental retardation syndrome: Report of an American family
Authors: Sadler Laurie S. , Robinson Luther K. 
Published: June 2005

AbstractRecently we evaluated an American family with the chorioretinal dysplasia‐microcephaly‐mental retardation syndrome (CDMMS, McKusick #156590). The male‐to‐male transmission observed for the first time in the family of this report confirms autosomal dominant inheritance. Analysis of our cases and review of the literature illustrates the variable expressivity of this disorder and demonstrates the need for careful ophthalmologic evaluation of at‐risk relatives in order to provide accurate recurrence risks. © 1993 Wiley‐Liss, Inc.
Cerebro‐reno‐digital syndrome in two sibs
Authors: Piantanida Mauro , Tiberti Alessandra , Plebani Alessandro , Martelli Paola , Danesino Cesare 
Published: June 2005

AbstractWe describe two sibs with mental retardation, facial anomalies, polydactyly, cerebellar vermis agenesis, and either meningocele or renal cystic dysplasia. The patients' condition appears to belong to a group of cerebro‐reno‐digital syndromes. Autosomal recessive inheritance is suggested. © 1993 Wiley‐Liss, Inc.
Cytogenetic evidence that the Saethre‐Chotzen gene maps to 7p21.2
Authors: Reardon W. , McManus S. P. , Summers D. , Winter R. M. 
Published: June 2005

AbstractEvidence for the location of the Saethre‐Chotzen acrocephalosyndactyly mutation on 7p21–22 is based on genetic linkage studies in families segregating for this autosomal dominant disorder. Linkage studies were guided by several reports of chromosome deletions in this region giving rise to craniosynostosis and some other manifestations of Saethre‐Chotzen syndrome. We report on a family where a father and daughter carry an apparently balanced t(7;10)(p21.2;q21.2) translocation (de novo in the father) and have the Saethre‐Chotzen syndrome. These observations support the localization of the Saethre‐Chotzen gene to 7p21.2. © 1993 Wiley‐Liss, Inc.
Investigation of thermoregulatory characteristics in patients with Prader‐Willi syndrome
Authors: Williams Marc S. , Rooney Brenda L. , Williams Janet , Josephson Kevin , Pauli Richard 
Published: June 2005

AbstractA survey instrument is used to assess temperature regulation characteristics in children with Prader‐Willi syndrome (PWS) compared to 3 control groups: sibs of PWS patients (SIB), neurodevelopmentally handicapped children (ND), and age and gender matched well children (WC). Significant differences were found between PWS patients, SIB controls, and WC controls in the prevalence of febrile convulsions, fever‐associated symptoms, and temperature less than 94°F. No differences were noted in any variable between the PWS patients and the ND controls, suggesting that these abnormalities are not unique to PWS, but can occur in any neurodevelopmentally handicapped individual, further suggesting these do not necessarily reflect syndromespecific hypothalamic abnormalities. © 1994 Wiley‐Liss, Inc.
Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes
Authors: Estop A. M. , Bansal V. , Lin A. , Levinson F. , Karlin S. M. , Surti U. , Wenger S. L. , Steele M. W. 
Published: June 2005

AbstractParacentric inversions, involving a rearrangement within one chromosome arm, are rare. Although carriers of balanced paracentric inversions should theoretically not be at risk for abnormal offspring, such cases have been reported. We report on 2 unrelated cases of inherited paracentric inversions of 1p with breakpoints at p32 and p36.1 and p32.3 and p36.22 in individuals with abnormal phenotypes. Another case of 2 abnormal monozygotic twins with a de novo paracentric inversion of 1p with breakpoints at p22 and p34 is presented as well. © 1994 Wiley‐Liss, Inc.
Epidemiology of limb‐body wall complex in Japan
Authors: Kurosawa Kenji , Imaizumi Kiyoshi , Masuno Mitsuo , Kuroki Yoshikazu 
Published: June 2005

AbstractLimb‐body wall complex is a malformation of body and limbs with craniofacial defects. We describe here the epidemiology of this complex using the population‐based registry data in the Kanagawa Birth Defects Monitoring Program during the period 1982–1991. Eleven infants (11/428,599 births) with the complex were ascertained in the study. The incidence and spectrum of the defects observed in our cases were similar to those of other studies. The parental ages in the study group were not significantly different from those in the general population. No teratogenic agents and factors were identified in the present study. Most cases were diagnosed prenatally. © 1994 Wiley‐Liss, Inc.
Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies
Authors: Levin Michael L. , Shaffer Lisa G. , Lewis Richard A. , Gresik Mary V. , Lupski James R. 
Published: June 2005

AbstractWe describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del (17) (q23.2q24.3)] who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and digital and widespread skeletal anomalies. This patient's phenotype was compared to two other reported patients with deletion 17q with minor clinical overlap consistent with a unique deletion. © 1995 Wiley‐Liss, Inc.
Some perinatal characteristics of monozygotic twins who are dichorionic
Authors: Machin Geoffrey , Bamforth Fiona , Innes Micheil , McNichol Kim 
Published: June 2005

AbstractZygosity testing of all multiple births allowed the identification of a subgroup of 42 monozygotic twin pairs who have dichorionic placentas, fused and separate. Perinatal outcomes of this group were compared with 110 pairs of monochorionic monozygotic twins and 148 pairs of dizygotic twins. Dichorionic monozygotic twins had the lowest incidence of preterm birth, perinatal mortality, and birth weight discordance.There was an excess of like‐sexed over unlike‐sexed pairs among the dizygotic twins. © 1995 Wiley‐Liss, Inc.
Multi‐site neural tube closure in humans and maternal folate supplementation
Authors: Seller Mary J. 
Published: June 2005

AbstractA group of 13 individuals with neural tube defects (NTD) despite maternal periconceptional folate supplementation was examined to determine precisely which closure sites along the neural tube had failed during embryogenesis. All the common forms of NTD, and thus all the usual closure sites, were represented. This suggests that folate deficiency does not act specifically on one region of the neural tube; rather, it may be more generally involved in the cause of human NTD. © 1995 Wiley‐Liss, Inc.
Chromosomal locations and modes of action of genes of the retinoid (vitamin A) system support their involvement in the etiology of schizophrenia
Authors: Goodman Ann B. 
Published: June 2005

AbstractVitamin A (retinoid), an essential nutrient for fetal and subsequent mammalian development, is involved in gene expression, cell differentiation, proliferation, migration, and death. Retinoic acid (RA) the morphogenic derivative of vitamin A is highly teratogenic. In humans retinoid excess or deficit can result in brain anomalies and psychosis. This review discusses chromosomal loci of genes that control the retinoid cascade in relation to some candidate genes in schizophrenia. The paper relates the knowledge about the transport, delivery, and action of retinoids to what is presently known about the pathology of schizophrenia, with particular reference to the dopamine hypothesis, neurotransmitters, the glutamate hypothesis, retinitis pigmentosa, dermatologic disorders, and craniofacial anomalies. © 1995 Wiley‐Liss, Inc.
Relationship of genetically transmitted alpha EEG traits to anxiety disorders and alcoholism
Authors: Enoch Mary‐Anne , Rohrbaugh John W. , Davis Elizabeth Z. , Harris Claudia R. , Ellingson Robert J. , Andreason Paul , Moore Veronica , Varner Jerald L. , Brown Gerald L. , Eckardt Michael J. , Goldman David 
Published: June 2005

AbstractWe tested the hypothesis that a heritable EEG trait, the low voltage alpha (LV), is associated with psychiatric disorders. Modest to moderate evidence for genetic linkage of both panic disorder and the low voltage alpha trait to the same region of chromosome 20q has recently been reported, raising the issue of whether there is a phenotypic correlation between these traits. A total of 124 subjects including 50 unrelated index subjects and 74 relatives were studied. Alpha EEG power was measured and EEG phenotypes were impressionistically classified. Subjects were psychiatrically interviewed using the SADS‐L and blind‐rated by RDC criteria. Alcoholics were four times more likely to be LV (including so‐called borderline low voltage alpha) than were nonalcoholic, nonanxious subjects. Alcoholics with anxiety disorder are 10 times more likely to be LV. However, alcoholics without anxiety disorder were similar to nonalcoholics in alpha power. An anxiety disorder (panic disorder, phobia, or generalized anxiety) was found in 14/17 LV subjects as compared to 34/101 of the rest of the sample (P < 0.01). Support for these observations was found in the unrelated index subjects in whom no traits would be shared by familial clustering. Lower alpha power in anxiety disorders was not state‐dependent, as indicated by the Spielberger Anxiety Scale. Familial covariance of alpha power was 0.25 (P < 0.01). These findings indicate there may be a shared factor underlying the transmissible low voltage alpha EEG variant and vulnerability to anxiety disorders with associated alcoholism. This factor is apparently not rare, because LV was found in approximately 10% of unrelated index subjects and 5% of subjects free of alcoholism and anxiety disorders. © 1995 Wiley‐Liss, Inc.
Prenatal diagnosis of FRA10A: A case report and literature review
Authors: Leon‐Luis Juan De , Santolaya‐Forgas Joaquin , May Gregory , Tonk Vijay , Shelton Doug , Galan Isabel 
Published: June 2005

AbstractWe report on the prenatal diagnosis of a familial fra10(q23)/del(10)(q23) detected after cellular cultures in non‐folic deprived medium. © 2005 Wiley‐Liss, Inc.
Development of an audit tool for genetic services
Authors: Skirton Heather , Parsons Evelyn , Ewings Paul 
Published: June 2005

AbstractRapid growth in demand and altered professional roles have produced changes in the delivery of genetic services over the past decade, but these have not been rigorously evaluated because of the paucity of appropriate audit tools. The aim of this study was to use clients' accounts and factor analysis to develop a robust assessment and audit tool. Qualitative data abstracted from several published studies were used to generate a number of statements related to outcomes of genetic services. A total of 57 statements were incorporated into a questionnaire. The questionnaire was mailed to clients of the Wales genetic service (n = 133) who had completed their episode of care. Respondents were asked to rank each statement on a seven‐point Likert type scale. Responses were subjected to factor analysis. A total of 97 anonymized responses were received (73% response rate). Six main factors were found to contribute to the outcome of the service from the client's perspective. These were labeled (i) enhanced understanding, (ii) positive psychological change, (iii) respect for autonomy, (iv) adaptation, (v) disequilibirium, and (vi) value of contact. The audit tool has now been refined for use in evaluating genetic services. Questions are included to investigate the six outcome areas shown to be relevant from the client's perspective. Data from the next phase of the study will be analyzed to validate the tool for use in both clinical audit and research contexts. © 2005 Wiley‐Liss, Inc.
Minor malformations characteristic of the retinoic acid embryopathy and other birth outcomes in children of women exposed to topical tretinoin during early pregnancy
Authors: Loureiro Kirsten D. , Kao Kelly K. , Jones Kenneth Lyons , Alvarado Sonia , Chavez Carmen , Dick Lyn , Felix Robert , Johnson Diana , Chambers Christina D. 
Published: June 2005

AbstractTopical tretinoin (Retin‐A®) is used to treat acne and photodamaged skin. Its teratogenic potential is of concern due to its similarity to isotretinoin (Accutane®), a recognized human teratogen. Through the California Teratogen Information Service and Clinical Research Program, between 1983 and 2003, 106 pregnant women with first‐trimester exposure to topical tretinoin were prospectively ascertained and followed. Birth outcomes, including pregnancy loss, major structural defects, and pre‐ and postnatal growth were compared to 389 similarly and prospectively ascertained women with no topical tretinoin exposure during pregnancy. Because a distinct pattern of malformation had already been described for isotretinoin, we also compared exposed (n = 62) and unexposed (n = 191) infants on the prevalence of a specific subset of minor malformations selected to represent the spectrum of defects comprising the retinoic acid embyopathy. There were no significant differences between groups in the proportion of pregnancies ending in spontaneous abortion (6.6% in exposed vs. 8.5% in unexposed; P = 0.53), or infants with major structural defects (2.2% in exposed vs. 1.2% in unexposed; P = 0.62). In addition, the groups were similar in birth weight, length and head circumference, and there were no significant differences between groups in length of gestation. Furthermore, the prevalence of one or more retinoic acid‐specific minor malformations did not differ significantly between groups (12.9% in exposed vs. 9.9% in unexposed; P = 0.51). First‐trimester topical tretinoin exposure in this study was not associated with an increased risk of any adverse pregnancy outcome evaluated. Specifically, there was no indication that topical tretinoin is associated with an increased risk for minor malformations that are consistent with the retinoic acid embryopathy. Although it is impossible to exclude the possibility that some women/infants may be uniquely susceptible to topical tretinoin exposure, this study provides further reassurance for women who are inadvertently exposed early in pregnancy. © 2005 Wiley‐Liss, Inc.
Intrachromosomal triplication for the distal part of chromosome 15q
Authors: Schluth C. , Mattei M. G. , Mignon‐Ravix C. , Salman S. , Alembik Y. , Willig J. , Ginglinger E. , Jeandidier E. 
Published: June 2005

AbstractWe report the case of a boy whose karyotype at birth showed additional material on one chromosome 15. He underwent treatment for unilateral nephroblastoma at 6 years old. At 23 years old, he presented with body asymmetry, facial dysmorphism, arachnodactyly, severe scoliosis, and mental retardation. Molecular cytogenetic analyses of peripheral lymphocytes demonstrated a complex mosaic with three clones. A major cell lineage (68%) showed a chromosome 15 with additional material fused to its telomere long arm that was constituted by an inverted duplicated 15q24.3‐qter segment. Therefore, the resulting add(15)(q) harbored an intrachromosomal triplication with the middle segment being inverted in orientation. A minor cell lineage (7%) showed an abnormal chromosome 3 resulting from a telomeric fusion between its short arm and an inverted duplicated 15q24.3‐qter segment. The third cell lineage (25%) showed a normal 46,XY constitution. Finally, this resulted in tetrasomy for the distal 15q24.3‐qter region in 75% of the patient's lymphocytes. To our knowledge, distal 15q tetrasomy is rare and only eight cases have been reported in the literature, all due to a supernumerary analphoid marker consisting of an inverted duplication. We report here the first observation of distal 15q tetrasomy associated with a 46 chromosomes constitution. We compare the phenotype of our patient to previous cases of distal tetrasomy 15q and discuss the mechanisms underlying this chromosomal rearrangement. © 2005 Wiley‐Liss, Inc.
The adult phenotype in Costello syndrome
Authors: White Susan M. , Graham J.M. , Kerr B. , Gripp K. , Weksberg R. , Cytrynbaum C. , Reeder J.L. , Stewart F.J. , Edwards M. , Wilson M. , Bankier A. 
Published: June 2005

AbstractWe report clinical findings in 17 adults with Costello syndrome ranging in age from 16 to 40 years. Two patients in this series have had bladder carcinoma, the only malignancy reported to affect adults with Costello syndrome. Benign tumors included multiple ductal papillomata in two women, and a fourth ventricle mass in one man, thought to be a choroid plexus papilloma. Endocrine problems in this series were osteoporosis, central hypogonadism, and delayed puberty. Other health problems were symptomatic Chiari malformations in three patients. Four patients had adult‐onset gastro‐esophageal reflux, three of whom had Chiari malformations. Fourteen adults had mild to moderate intellectual disability with three individuals having severe intellectual disability; 15 individuals attained some reading and writing skills and 14 showed ongoing acquisition of new skills into adulthood. On the basis of this data, we recommend that neuro‐imaging be considered in adults with Costello syndrome if they develop symptoms suggestive of a Chiari malformation. In the event of pubertal delay, endocrine investigations are indicated and hormone treatment may be required. Bone density assessments should be performed in adults with Costello syndrome, particularly in those with pubertal abnormalities. Screening for microscopic hematuria as a marker for bladder carcinoma may be indicated, although this requires further evaluation. © 2005 Wiley‐Liss, Inc.
Reported multivitamin consumption and the occurrence of multiple congenital anomalies
Authors: Yuskiv Nataliya , Honein Margaret A. , Moore Cynthia A. 
Published: June 2005

AbstractThe purpose of this case‐control study was to determine whether multivitamin use is associated with the occurrence of multiple congenital anomalies (MCA). MCA case‐infants were infants with two or more major birth defects affecting at least two different organ systems, with no recognized chromosome abnormality or single gene disorder. Control‐infants were a random sample of live births with no major birth defects from the same population (metropolitan Atlanta) and time period (1993–1997) as the case‐infants. Exposure to multivitamins, cereals, and supplements was ascertained from a maternal telephone interview and classified based on folic acid content. We compared women who used multivitamins three or more times per week with women who were not exposed to vitamins/cereals/supplements during the periconceptional period (3 months before pregnancy through the first trimester), adjusting for maternal age, education, race/ethnicity, first degree family history of a major birth defect, pre‐pregnancy maternal body mass index, gravidity, and first trimester alcohol use and cigarette smoking. Periconceptional multivitamin use was associated with MCA among all infants (adjusted odds ratio [aOR] = 2.4, 95% confidence interval [CI] 0.9–6.7), and especially when analysis was limited to those with no family history of major defects (aOR = 4.0, 95% CI 1.3–12.8). MCA‐infants with urinary obstructive defects were more common among multivitamin‐exposed infants than among unexposed infants, but this defect did not occur within a consistent pattern of defects. While these findings provide some support for one previous study, the interpretation remains unclear given the proven protective effect of multivitamins containing folic acid on isolated neural tube defects and possibly other types of defects. Published 2005 Wiley‐Liss, Inc.
A new observation of acro‐cardio‐facial syndrome substantiates interindividual clinical variability
Authors: Mingarelli Rita , Zuccarello Daniela , Digilio Maria Cristina , Dallapiccola Bruno 
Published: June 2005

AbstractWe report on a baby presenting with ectrodactyly, heart defects, and mild facial dysmorphisms, an association recognized as acro‐cardio‐facial syndrome (ACFS). Based on the first three observations, the acronym CCGE, cleft palate, cardiac defect, genital anomalies, and ectrodactyly had been proposed to embrace the most consistent features of this syndrome. A subsequent report and the present patient point to an obvious interindividual and intrafamilial variability of this autosomal recessive disorder in which ectrodactyly was the sole characteristic shared by all affected individuals. © 2005 Wiley‐Liss, Inc.
Folate‐related genes and omphalocele
Authors: Mills James L. , Druschel Charlotte M. , Pangilinan Faith , Pass Kenneth , Cox Christopher , Seltzer Rebecca R. , Conley Mary R. , Brody Lawrence C. 
Published: June 2005

AbstractWomen who take folic acid in the periconceptional period greatly reduce their chances of having a child with a neural tube defect (NTD). Using multivitamins may also reduce the risk of having a child with an omphalocele. In this study, we tested single nucleotide polymorphisms in folate‐related enzyme genes for association with omphalocele. Polymorphisms in methylenetetrahydrofolate reductase (MTHFR), methylenetetrahydrofolate dehydrogenase (MTHFD1), the reduced folate carrier (SLC19A1), and transcobalamin II (TCN2) were examined in 25 children with euploid omphalocele and 59 matched controls. Omphalocele cases were significantly more likely to carry the T allele of MTHFR 677C → T, a known risk factor for NTDs (odds ratio 3.50, 95% confidence interval 1.07–11.47, P = 0.035). The MTHFD1 R653Q, SLC19A1 R27H, and TCN2 P259R polymorphisms showed no significant association with omphalocele. In this small study, the thermolabile variant of MTHFR, 677C → T, was associated with an increased risk for omphalocele. This variant causes reduced enzyme activity, thus suggesting a mechanism by which multivitamins with folic acid might prevent omphalocele. Additional investigation is required. Published 2005 Wiley‐Liss, Inc.
Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3‐pter
Authors: Archer H.L. , Gupta S. , Enoch S. , Thompson P. , Rowbottom A. , Chua I. , Warren S. , Johnson D. , Ledbetter D.H. , Lese‐Martin C. , Williams P. , Pilz D.T. 
Published: June 2005

AbstractTelomeres are gene rich regions with a high recombination rate. Cryptic subtelomeric rearrangements are estimated to account for 5% of mental retardation/malformation syndromes. Here we present the first patient with a deletion of 19p13.3, identified by subtelomeric FISH analysis. His features included a distinctive facial appearance, cleft palate, hearing impairment, congenital heart malformation, keloid scarring, immune dysregulation, and mild learning difficulties. Subtelomeric FISH analysis identified a deletion of 19p13.3‐pter. The deletion size was determined to be 1.2 Mb by FISH analysis. It extended from within the chromosomal region covered by BAC RP11‐50C6 to 19pter. The deleted area encompassed approximately 60 genes. Fifteen possible candidate genes were considered with respect to the phenotype, including follistatin‐related precursor 3 (FSTL3) and serine‐threonine kinase 11 (STK‐11). © 2005 Wiley‐Liss, Inc.