bluuebunny/crossref_metadata_2025_split huggingface dataset:
Survival in trisomy 18
Authors: Root Susan , Carey John C. 
Published: June 2005

AbstractPrenatal diagnosis of trisomy 18 by amniocentesis in the latter half of pregnancy is now a common event. Accurate prognostic information is crucial for families making decisions about delivery management. Three recently published studies showed much shorter survival for trisomy 18 than was reported by earlier papers. For this reason, we studied trisomy 18 survival. We examined chromosome laboratory records to find all trisomy 18 diagnoses made in Utah between 1979 and 1988. Death certificates and hospital records were used to determine survival. We found 64 live‐born cases with trisomy 18 out of 388,563 total births over the 10‐year period, a prevalence of 1/6071. Our results show a median survival of 4 days and a 1 week survival of 45%, similar to that reported in the 3 recent studies. However, we had a significantly greater survival at 6 months (9% in Utah versus 3% in Denmark) and 1 year (5% versus 0 in the 3 studies). In contrast to recent studies, earlier investigations showed 80% survival at 2 weeks and 8% at 1 year. It is not surprising that recent studies show shorter survival, since in the 1960s the diagnosis was typically not made until age 2 months. With prenatal and neonatal diagnosis many cases which would have died prior to detection in earlier times are now diagnosed. The longer survival discrepancies are more difficult to explain, but may simply be due to small numbers. © 1994 Wiley‐Liss, Inc.
Familial hydrocephalus of prenatal onset
Authors: Zlotogora Joël , Sagi Michal , Cohen Tirza 
Published: June 2005

AbstractFourteen families in which more than one child was diagnosed with hydrocephalus of prenatal onset were seen in our genetic counseling clinic. In 7 families only males were affected: in 2 X‐linked hydrocephalus was diagnosed while X‐linked inheritance was suspected in 3 other families. These 5 families were of Jewish origin. In the 8 families of Arab origin, the parents of the affected children were consanguineous. In 6 of these families at least one female was affected and the hydrocephalus was most probably inherited as an autosomal recessive trait. This type of hydrocephalus of prenatal onset appears to be frequent among Palestinian Arabs. © 1994 Wiley‐Liss, Inc.
Bilateral femoral hypoplasia associated with Rokitansky sequence: Another example of a mesodermal malformation spectrum?
Authors: Bau Claiton H. D. , Ribeiro Cyntia A. , Ribeiro Schuber A. , Flores Renato Z. 
Published: June 2005

AbstractWe report on a woman with bilateral femoral hypoplasia and Rokitansky sequence, malformations that up to now had not been described together. There are no other cases in the family, and no history of prenatal teratogen exposure. This case may be part of a mesodermal malformation spectrum. © 1994 Wiley‐Liss, Inc.
Autosomal recessive colobomatous microphthalmia
Authors: Zlotogora Joël , Legum Cyril , Raz Judith , Merin Saul , Benezra David 
Published: June 2005

AbstractColobomatous microphthalmia was studied in multiple relatives of 5 families. In these families, the disorder was an autosomal recessive trait as opposed to the usual autosomal dominant form of the disorder. A relatively high incidence of this recessive allele is found in the Iranian Jewish community. © 1994 Wiley‐Liss, Inc.
Parental consanguinity in two sibs with omodysplasia
Authors: Baxová A. , Maroteaux P. , Barošová J. , Netriová I. 
Published: June 2005

AbstractTwo sibs with omodysplasia were born to phenotypically normal but consanguineous parents. They had severe micromelic dwarfism, facial anomalies, and mental retardation. One had a congenital heart defect. The radiographic findings are typical: hypoplastic distal end of the humerus with radioulnar diastasis. Parental consanguinity and clinical manifestations in 2 sibs suggest autosomal recessive inheritance. © 1994 Wiley‐Liss, Inc.
Familial 10p trisomy resulting from a maternal pericentric inversion
Authors: Kozma Chahira , Meck Jeanne M. 
Published: June 2005

AbstractWe report a familial recombination of a pericentric inversion of chromosome 10 resulting in 2 affected relatives who had 10p trisomy and 10q monosomy with the karyotypic abnormality designated rec(10) dup p,inv(10) (p11.2q26). Both of these individuals had the typical characteristics of 10p trisomy, however, at birth the proposita had mild facial anomalies suggesting that the distinct facial characteristics may be of postnatal onset in some cases. In addition, the proposita had gastroesophageal reflux causing severe anemia. The phenotype of our patients is compared to 41 patients with 10p trisomy reported in the literature. © 1994 Wiley‐Liss, Inc.
Additional case of opsismodysplasia supporting autosomal recessive inheritance
Authors: Beemer Frits A. , Kozlowski Kazimierz S. 
Published: June 2005

AbstractThe authors describe clinical and radiological findings in a 2‐year‐old boy from consanguineous parents. A diagnosis of opsi(s)modysplasia (=delayed maturation) had been made (MIM 258480). The purpose of this paper is to draw attention to the striking radiological manifestations. Consanguinity in the parents of our case and occurrence in a brother and sister in a previous report support an autosomal recessive transmission. © 1994 Wiley‐Liss, Inc.
Excess functional copy of allele at chromosomal region 11p15 may cause Widemann‐Beckwith (EMG) syndrome
Authors: Kubota Takeo , Saitoh Shinji , Matsumoto Tadashi , Narahara Kouji , Fukushima Yoshimitsu , Jinno Yoshihiro , Niikawa Norio 
Published: June 2005

AbstractWiedemann‐Beckwith syndrome (WBS) is a genetic disorder with overgrowth and predisposition to Wilms' tumor. The putative locus of the gene responsible for this syndrome is assigned to chromosome region 11p15.5, and genomic imprinting in this region has been proposed: the paternally derived gene(s) at 11p15.5 is selectively expressed, while the maternally transmitted gene(s) is inactive. We examined 18 patients for the parental origin of their 11p15 regions. DNA polymorphism analyses using 6 loci on chromosome 11 showed that 2 patients with duplications of 11p15 regions from their respective fathers and one from the mother, indicating the transmission of an excessive paternal gene at 11p15 to each patient. Our results, together with the previous findings in karyotypically normal or abnormal patients and in overgrowth mouse experiments, are consistent with imprinting hypothesis that overexpression of paternally derived gene(s) at 11p15.5, probably the human insulin‐like growth factor II (IGF‐II) gene, may cause the phenotype. Total constitutional uniparental paternal disomy (UPD) or segmental UPD for the 6 loci examined of chromosome 11 was not observed in our 12 sporadic patients. In order to explain completely the inheritance of this syndrome in patients with various chromosomal constitutions, we propose an alternative imprinting mechanism involving the other locus that may be paternally imprinted and may suppress the expression of this gene. © 1994 Wiley‐Liss, Inc.
U‐type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8
Authors: Mitchell John J. , Vekemans Michel , Luscombe Sandra , Hayden Michael , Weber Bernard , Richter Andrea , Sparkes Robert , Kojis Tracy , Watters Gordon , Der Kaloustian Vazken M. 
Published: June 2005

AbstractA mentally retarded male with dysmorphic features was found to have a de novo 46,XY,inv dup(8) (p.23.1 → 12). Confirmation of the segments duplicated in the rearrangement was achieved by biochemical analysis of glutathione reductase, which maps to 8p21.1, and DNA studies using the chromosome specific probe y‐19‐1D (D85131), which maps to 8p21. Assay of cathepsin B, which has been localised to 8p22, did not differ from controls with normal chromosomal constitution. DNA studies using the Defensin 1 gene probe, which maps to 8p23, showed a previously undetected deletion of that segment. We propose that the inverted tandem duplication/deletion arose as a single U‐type exchange within an inversion loop. © 1994 Wiley‐Liss, Inc.
Case of 46,XX/47,XY, + 21 chimerism in a newborn infant with ambiguous genitalia
Authors: Sawai Tomoko , Yoshimoto Masaaki , Kinoshita Ei‐Ichi , Baba Tsuneyoshi , Matsumoto Tadashi , Tsuji Yoshiro , Fukuda Shinpei , Harada Naoki , Niikawa Norio 
Published: June 2005

AbstractWe describe whole‐body chimerism in a newborn infant with small phallus, pseudo‐vaginal perineal hypospadias, and a bifid scrotum containing gonads. The human testis determining factor gene (SRY) was detected by PCR amplification. GTG‐banding chromosome analysis in peripheral blood lymphocytes and cultured fibroblasts derived from right cubital skin showed a 46,XX/47,XY, + 21 karyotype. Their ratios in each cell line were 294:5 and 178:7, respectively. QFQ‐banding chromosome analysis documented 3 heteromorphic statellites on trisomic chromosomes 21 in the 47,XY, + 21 cell line and a homozygous statellite pattern in the 46,XX cell line. Heteromorphic patterns of chromosomes 4, 13, 14, and 22 were also different between the two cell lines. To our knowledge, such disomy/trisomy chimeras have not been described previously. © 1994 Wiley‐Liss, Inc.
Clinical diagnosis of the Usher syndromes
Authors: Smith R. J. H. , Berlin C. I. , Hejtmancik J. F. , Keats B. J. B. , Kimberling W. J. , Lewis R. A. , Möller C. G. , Pelias M. Z. , Tranebjærǵ L. 
Published: June 2005

AbstractThe Usher syndromes are genetically distinct disorders which share specific phenotypic characteristics. This paper describes a set of clinical criteria recommended for the diagnosis of Usher syndrome type I and Usher syndrome type II. These criteria have been adopted by the Usher Syndrome Consortium and are used in studies reported by members of this Consortium. © 1994 Wiley‐Liss, Inc.
Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: A variant of Kohlschütter‐Tönz syndrome?
Authors: Guazzi Giancarlo , Palmeri Silvia , Malandrini Alessandro , Ciacci Giuseppe , Perri Raoul Di , Mancini Grazia , Messina Corrado , Salvadori Claudio 
Published: June 2005

AbstractWe describe 3 sibs, their father, and paternal grandfather with amelogenesis imperfecta. In 2 sibs and the father the defect is associated with a neurological syndrome which has a wide range of phenotypic variability. The proposita has ataxia, EEG abnormalities, moderate dementia, and enamel hypoplasia. This case and the affected relatives are discussed in relation to Kohlschütter‐Tönz syndrome and neuroectodermal diseases. The syndrome described here, characterized by the association of a genetic enamel defect and neurological impairment, may be of considerable interest in advancing genetic and clinical knowledge on ectodermal tissues and their development. © 1994 Wiley‐Liss, Inc.
Congenital hypoplastic anemia: Another example of autosomal dominant transmission
Authors: Gojic V. , Van't Veer‐Korthof E. T. , Bosch L. J. , Puyn W. H. , van Haeringen A. 
Published: June 2005

AbstractCongenital hypoplastic anemia (CHA) or Blackfan‐Diamond anemia (BDA) is a rare congenital abnormality of erythropoiesis characterized by normochromic, macrocytic anemia presenting in infancy or early childhood. Associated phenotypic abnormalities such as triphalangeal thumbs and cleft lip and/or palate are found in 70% of cases. Although most cases are sporadic, several reports suggest either autosomal dominant or autosomal recessive inheritance. We report on a 3 generation family with autosomal dominant inheritance of CHA. © 1994 Wiley‐Liss, Inc.
Wisconsin Stillbirth Service Program: I. Establishment and assessment of a community‐based program for etiologic investigation of intrauterine deaths
Authors: Pauli Richard M. , Reiser Catherine A. , Lebovitz Ruth M. , Kirkpatrick Susan J. 
Published: June 2005

AbstractAlthough stillbirth is a common event, few programs have previously been established for the comprehensive etiologic investigation of intrauterine death. Fewer still have been prospective, unbiased in ascertainment, and consistent in protocol utilization. The Wisconsin Stillbirth Service Program was established in 1983 as a unique model for the investigation of the causes of stillbirth. This community‐based, University‐supported model for health care delivery is here described. Through it more than a thousand infants have been etiologically investigated. We demonstrate that a community‐based program of stillbirth assessment can succeed, that compliance with recommended protocols is high and that a specific primary cause of fetal death can be demonstrated in about 40% of referrals. A majority of the established causes of intrauterine death are fetal etiologies. Furthermore, it appears that there are no substantial referral biases. Lack of such biases, together with the prospective, protocol driven nature of the program provides a unique population upon which to base estimates of the frequency of various etiologic diagnoses and classes and categories of cause. © 1994 Wiley‐Liss, Inc.
Wisconsin Stillbirth Service Program: II. Analysis of diagnoses and diagnostic categories in the first 1,000 referrals
Authors: Pauli Richard M. , Reiser Catherine A. 
Published: June 2005

AbstractThe Wisconsin Stillbirth Service Program has provided a mechanism for the collection and analysis of unbiased and representative information concerning stillborn infants. Generated diagnoses and diagnostic categories within the first 1,000 referrals (including 789 stillbirths) is summarized here. Among all referred stillborns, 24.5% were found to have an identifiable intrinsic fetal cause of death. Specific diagnoses were extraordinarily heterogeneous, with about 85 different processes identified with this group. No single diagnosis was found in more than 1 1/2% of the evaluated stillborns. Distribution by classes of fetal causes (as a percent of all fetal causes in stillborns) included malformation syndromes in 44%, single malformations and defined sequences in 34%, disruptions in 10%, and dysplasias in 3%. The heterogeneity of syndromic causes is illustrated, examples of previously undescribed syndromic processes provided and the problems experienced in generating specific diagnoses discussed. Specific single malformations, sequences, disruptions, and dysplasias are also tabulated and illustrated. Distribution by etiologic categories (as a percent of all fetal causes in stillborns) included defined sporadic conditions in 29%, cytogenetic aberration in 25%, presumed multifactorial processes in 12%, Mendelian disorders in 5%, and environmental events in less than 4%. A fourth of all fetal causes could not be sufficiently defined to allow for certainty in assigning a specific etiologic category. The materials summarized provide reference data regarding the frequency of classes and categories of fetal diagnoses generated from an unbiased and non‐selected series of stillborns. © 1994 Wiley‐Liss, Inc.
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: A new autosomal recessive syndrome?
Authors: Kotzot Dieter , Richter Konrad , Gierth‐Fiebig Kornelia 
Published: June 2005

AbstractWe report on 2 related children, a boy and a girl, from a large Turkish clan. Their parents are both first cousins and have several common ancestors. Both children have tyrosinase‐positive oculocutaneous albinism, recurrent bacterial infections, granulocytopenia, intermittent thrombopenia, and microcephaly, a protruding midface, rough and projecting hair, and mild mental retardation. Chromosomes are normal. Metabolic disorders were excluded.None of 14 well‐known types of albinism, including Hermansky‐Pudlak syndrome and Chediak‐Higashi syndrome, nor any other genetic syndrome, characterizes our patients sufficiently. Thus, this combination of symptoms is considered a new autosomal recessive syndrome. © 1994 Wiley‐Liss, Inc.
Emery‐Dreifuss syndrome: Genetic and clinical varieties
Authors: Rudenskaya G. E. , Ginter E. K. , Petrin A. N. , Djomina N. A. 
Published: June 2005

AbstractTwo familial and 2 sporadic cases of Emery‐Dreifuss syndrome are reported. One family presented a rare autosomal dominant variant of Emery‐Dreifuss muscular dystrophy, another with X‐linked recessive inheritance showed unusual intrafamilial variability. One of sporadic cases closely resembled rigid spine syndrome, the other was clinically intermediate between Emery‐Dreifuss muscular dystrophy and rigid spine syndrome, showing that they are not distinct disorders. © 1994 Wiley‐Liss, Inc.
Barth syndrome: Clinical observations and genetic linkage studies
Authors: Christodoulou J. , McInnes R. R. , Jay V. , Wilson G. , Becker L. E. , Lehotay D. C. , Platt B.‐A. , Bridge P. J. , Robinson B. H. , Clarke J. T. R. 
Published: June 2005

AbstractBarth syndrome is an X‐linked recessive condition characterized by skeletal myopathy, cardiomyopathy, proportionate short stature, and recurrent neutropenia, but with normal cognitive function. Some, but not all patients, exhibit carnitine deficiency and/or the presence of 3‐methylglutaconic and ethylhydracylic acids in urine. Recently the mutation causing Barth syndrome was localised to the Xq28 region by linkage analysis. We report 6 cases of Barth syndrome from 4 families and highlight the fact that neuromuscular and cardiovascular symptoms and the severity of infections tend to improve with age, while short stature persists. Also previously unreported was myopathic facies and nasal quality to speech in our cases. The urinary organic acid abnormalities and plasma carnitine deficiency were inconsistent findings. We propose that they may be epiphenomena rather than indicators of the primary metabolic defect, and that the primary defect or defects in this disorder may lie in the mitochondrial electron transport chain. © 1994 Wiley‐Liss, Inc.
RSH/SLO (Smith‐Lemli‐Opitz) syndrome: Designing a high cholesterol diet for the SLO syndrome
Authors: Acosta Phyllis B. 
Published: June 2005

AbstractA high cholesterol diet has been suggested to help prevent the poor reproductive outcomes found in heterozygote carriers of fetuses affected with the Smith–Lemli–Opitz (SLO) syndrome. The theory has also been presented that a high cholesterol medical food may enhance myelination of the central nervous system of the infant and prevent demyelination in the child and adult with SLO. Clinical studies are required to test this hypothesis and to determine the optimal composition of such medical foods. FDA requires proof of efficacy and controls nutrient composition, ingredients, and label claims of medical foods. © 1994 Wiley‐Liss, Inc.
Median nodule of the upper lip: An autosomal dominant trait
Authors: Tsukahara Masato , Fernandez Isabel , Sugio Yoshitsugu , Shiota Kohei 
Published: June 2005

AbstractWe describe a total of 18 individuals, in 3 families, with a median nodule of the upper lip. In family 1, the proposita, an 8‐month‐old infant girl, was otherwise phenotypically normal except for a median nodule of the upper lip. The proposita's elder brother and mother, both phenotypically normal, also had the similar nodule of the upper lip. On the mother's side, the proposita's greatgrandmother, great‐grandaunt, grandfather, greataunt, two aunts, and one female cousin all had a median nodule of the upper lip. In family 2, the proposita, proposita's mother and maternal grandfather had a median nodule of the upper lip. In family 3, the proposita, proposita's father, paternal grandfather, paternal uncle, and cousin had a median nodule of the upper lip. Analysis of 3 families indicates that the condition is an autosomal dominant trait. © 1994 Wiley‐Liss, Inc.
Non‐collagenous protein screening in the human chondrodysplasias: Link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin
Authors: Stanescu Victor , Do Thuc Pham , Chaminade Françoise , Maroteaux Pierre , Stanescu Ritta 
Published: June 2005

AbstractA gel‐electrophoretic screening for link proteins, cartilage oligomeric matrix protein (COMP), and fibromodulin abnormalities was performed in fetuses, newborn infants, and children with various types of chondrodysplasia. Microdissected freeze‐dried sections of upper tibial growth cartilage were extracted with 4M guanidinium chloride in the presence of proteolysis inhibitors. After dialysis against 8M urea, the extracts were submitted to stepwise ion‐exchange chromatography to separate the large proteoglycans (aggrecans) from the other components. The latter were analyzed by gel electrophoresis, electrotransferred onto nitrocellulose membranes, and reacted with specific antibodies. Control samples from individuals with apparently normal growth were analyzed in the same runs.Two link protein bands with abnormal electrophoretic migration were found in a sporadic case of spondylometaphyseal dysplasia, Kozlowski type. Three link protein bands with the same migration as in the control samples were found in thanatophoric dysplasia, homozygous achondroplasia, achondrogenesis type II, hypochondrogenesis, Goldblatt syndrome, Desbuquois dysplasia, pseudo‐achondroplasia, and diastrophic dysplasia. In several pathologic cases with normal electrophoretic pattern of the link proteins, small link protein fragments appeared after reduction.The gel electrophoretic pattern of COMP was studied in thanatophoric dysplasia, diastrophic dysplasia, homozygous achondroplasia, fibrochondrogenesis, hypochondrogenesis, Goldblatt syndrome, and Kniest dysplasia. In all these cases the pattern was the same as in the control samples.The main band of fibromodulin had a normal migration rate in fibrochondrogenesis, Desbuquois dysplasia, Kniest dysplasia, and pseudoachondroplasia. It was delayed in diastrophic dysplasia. © 1994 Wiley‐Liss, Inc.
Autosomal recessive proximal spinal muscular atrophy in 101 sibs out of 48 families: Clinical picture, influence of gender, and genetic implications
Authors: Rudnik‐Schöneborn Sabine , Röhrig Dorothee , Morgan Graeme , Wirth Brunhilde , Zerres Klaus 
Published: June 2005

AbstractWe analysed the clinical picture of 101 sibs (43 sib pairs, 5 triplets) with autosomal recessive proximal spinal muscular atrophy (SMA). Linkage data of 20 sibships, which were available for analysis, were in agreement with chromosome 5q linkage. The patients were classified according to the motor development into SMA I (never sat), SMA II (sitting without support), and SMA III (walking without aids). Three sibs with adult onset (>30 years = SMA IV) were discussed as a separate entity. Age‐of‐onset of the 101 patients showed a wide spectrum (prenatal to 47 years). Among sib pairs with SMA I and SMA II the ages‐of‐onset appeared to be very similar except of one atypically discordant sib pair. With regard to SMA III, 3 out of 13 sibships (23%) showed a marked variation in age‐of‐onset ranging from 5–15 years within a family.Concerning acquired motor development (ability to sit and walk), 7 sibships (15%) belonged to different SMA types. Ages of death in 29 sib pairs in whom at least one sib had died before the age of 20 years were strikingly discordant. Neither the degree of disability nor the respiratory deficits are reliable predictors of life expectancy. Although a predominance of males can be observed, no significant effect of gender has been established in familial cases. The existence of multiple allelism seems to be the most suitable explanation for the high interfamilial variability considering the clinical concordance in most affected sib pairs. © 1994 Wiley‐Liss, Inc.