bluuebunny/crossref_metadata_2025_split huggingface dataset:
Maternal serum hCG and SP1 in pregnancies with fetal aneuploidy
Authors: Bartels Iris , Thiele Marion , Bogart Mark H. 
Published: June 2005

AbstractIn a retrospective study, maternal serum levels of chorionic gonadotropin (hCG) and pregnancy specific β1‐glycoprotein (SP1) from 63 pregnancies with aneuploid fetuses were compared to the levels observed in pregnancies with a chromosomally normal fetus. Thirty‐eight percent of the abnormal pregnancies had elevated levels (>2.0 multiples of the normal median [MoM]) of hCG and 14% had depressed levels (<0.25 MoM). With a false‐positive rate of 5%, 44% of the 42 fetuses with trisomy 21 would have been detected by elevated hCG levels. With the same false‐positive rate, only 21% had elevated SP1 levels. hCG was significantly depressed in 12 pregnancies affected by fetal trisomy 18.
Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen
Authors: Anderson Ilse J. , Tsipouras Petros , Scher Carron , Ramesar Raj S. , Martell Robert W. , Beighton Peter 
Published: June 2005

AbstractA mild autosomal dominant form of spondylo‐epiphyseal dysplasia (SED) is present in several generations of a South African family of English stock. This phenotype differs from that of any other previously described. Although type II collagen defects have been found in some families with SED congenita, the phenotype in our family showed discordant segregation with COL2A1 gene associated restriction fragment length polymorphisms (RFLPs), the markers for the structural locus of type II collagen. It is evident that the SED group of disorders is heterogeneous.
Clinical manifestation of prenatal exposure to valproic acid using case reports and epidemiologic information
Authors: Martínez‐Frías Maria Luisa 
Published: June 2005

AbstractThe present study includes 28 patients prenatally exposed to valproic acid (VPA) monitored by the Spanish Collaborative Study of Congenital Malformations (ECEMC), from April 1976 to December 1988. Among the 28 cases, 15 (53.6%) were exposed only to VPA and 13 (46.4%) to VPA plus other anticonvulsant drugs. The clinical manifestations observed in those prenatally exposed only to VPA, are compared with the abnormalities observed in those with prenatal exposure to VPA plus other anticonvulsant drugs. To better define the spectrum of clinical manifestation of the prenatal exposure to VPA we used, besides our clinical observations and those from the literature, all available epidemiological data.We consider that a “valproate embryofetopathy (VPEF)” could exist, because different anomalies have been observed in children prenatally exposed to VPA in monotherapy. A facial phenotype of VPA exposure has been reported, and epidemiologic studies have shown an increased risk for congenital defects. However, from a review of published cases as well as those in the present study, it appears that the spectrum of VAE in monotherapy may not include oral clefts.
Mental retardation, short stature, almond‐shaped eyes, small downturned mouth and coned epiphyses: A new case of Hunter‐fraser syndrome
Authors: Van Maldergem L. , Gillerot Y. , Perlmutter N. , Wetzburger C. , Koulischer L. 
Published: June 2005

AbstractA 21‐year‐old male with mental retardation, short stature, almond‐shaped eyes, small downturned mouth, and coned epiphyses is presented. The clinical presentation, as well as the metacarpal phalangeal pattern profile, was similar to the affected members of a family reported by Hunter et al.: (Hunter et al.: J Med Genet 14:430–437, 1977). In addition, many features of our patient resembled Ruvalcaba syndrome. However, skeletal abnormalities were different. A reciprocal translocation was also observed in 3 members of our patient's family.
Agnathia, holoprosencephaly, and situs inversus: A third report
Authors: Meinecke Peter , Padberg Barbara , Laas Rudolf 
Published: June 2005

AbstractWe report on a male infant with cyclopia, agnathia, and situs inversus. In addition, anal atresia and horseshoe‐kidneys were present. To our knowledge, this is the third published case of the “agnathia‐holoprosencephaly‐further midline defects association”.
LEOPARD syndrome: Death because of chronic respiratory insufficiency
Authors: Peter John R. , Kemp James S. 
Published: June 2005

AbstractMost patients with LEOPARD syndrome (L—lentigines, E—electrocardiographic conduction defects, O—ocular hypertelorism, P—pulmonary stenosis, A—abnormalities of genitalia, R—retardation of growth, D–deafness) seem to lead a relatively normal life, cardiomyopathy being the cause of death in a few. We describe a 19‐year‐old woman with an extreme form of the syndrome requiring correction of her thoracic deformities and cardiac defects, succumbing ultimately to respiratory insufficiency. The respiratory insufficiency was secondary to her deformed thorax, with the congenital heart defect contributing to the development of pulmonary hypertension. The ventilatory status of LEOPARD syndrome patients may require careful assessment.
Iron storage disease in parents and sibs of infants with neonatal hemochromatosis: 30‐ year follow‐up
Authors: Dalhøj Jørgen , Kiaer Henrik , Wiggers Preben , Grady Robert W. , Jones Robert L. , Knisely A. S. 
Published: June 2005

AbstractNeonatal hemochromatosis (NH), an uncommon and generally fatal disorder of infancy, is defined by hepatic disease of antenatal onset, generally manifest at birth, and by stainable iron in a tissue distribution like that seen in heritable adult‐onset hemochromatosis (HH). It is not known if parents and sibs of infants with NH are at risk of iron storage disease in later life. We provide 30‐year follow‐up for iron overload of a family in which 6 of 9 children died in utero or early in the neonatal period. Four of the 6 came to autopsy, where severe liver disease was found; in 3 of the 4, autopsy material could be reviewed. These 3 children had NH. Studies 30 years later did not identify HH or other iron storage disease in the parents or surviving sibs. These findings suggest that first‐degree relatives of persons with NH are not necessarily at increased risk of iron storage disease in later life.
Pre‐ and postnatal diagnosis of trisomy 4 mosaicism
Authors: Marion Janet P. , Fernhoff Paul M. , Korotkin Jeffrey , Priest Jean H. 
Published: June 2005

AbstractA liveborn girl with 46,XX/47,XX + 4 mosaicism is reported for the first time. The diagnosis of true mosaicism was established initially in the assay of cultured amniotic fluid cells, although fetal blood obtained by percutaneous umbilical blood sampling showed a 46,XX chromosome constitution. The liveborn infant had manifestations previously reported in dup(4p) and dup(4q) syndromes. Cells in cord and arterial blood samples also were 46,XX, but cultures of placenta and bilateral forearm skin biopsies showed 46,XX/47,XX, +4 mosaicism. This case illustrates the disadvantage of chromosome analysis from blood alone when tissue‐specific mosaicism is present.
Malformations and minor anomalies in children whose mothers had prenatal diagnosis: Comparison between CVS and amniocentesis
Authors: Kaplan Paige , Normandin Jean , Wilson Golder N. , Plauchu Henri , Lippman Abby , Vekemans Michel 
Published: June 2005

AbstractThe frequency of abortion following chorionic villus sampling (CVS) is similar to that following amniocentesis. However, there is no information on long‐term effects, such as malformations in liveborn children exposed to CVS. We evaluated 189 infants whose mothers had either CVS or amniocentesis as participants in the Canadian Collaborative Randomized Trial, a prospective assessment of the safety of CVS compared with amniocentesis. The participation rate of children who could be contacted was 95%. Ninety‐five of the 189 infants (50.2%) had been exposed to CVS, 87 (46%) to amniocentesis, and 7 (3.8%) to both. (The latter group was excluded from calculations.) One hundred twenty‐eight (128) children had ⩾ one minor anomalies but no major abnormalities: 58 of 95 (60%) in the CVS and 70 of 87 (80%) in the amniocentesis group. Twenty‐six children had malformations: 17 (17.8%) in the CVS and 9 (10.3%) in the amniocentesis group. Only one anomaly, Sturge‐Weber dysplasia (amniocentesis group), was potentially severe and none were life‐threatening. Superficial cavernous hemangiomas (strawberry nevi) were noted more frequently in children in the CVS group (12.6%) than in the amniocentesis group (3.4%), but only slightly higher than in the general public.We conclude that exposure to CVS is not associated with an increased frequency of malformations or minor anomalies in infants compared with amniocentesis although we observed a higher frequency of superficial cavernous (strawberry) hemangiomas in the children in the CVS group.
Nonrandom chromosome changes in multiple sclerosis
Authors: D'Alessandro Elvira , Cola Mario Di , Lo Re Maria Luisa , Ligas Claudio , Vaccarella Corinna , D'Andrea Francesco , Marini Carmine , Prencipe Massimiliano 
Published: June 2005

AbstractIn order to study the role of genetic factors in multiple sclerosis, cytogenetic analysis was performed on 48 patients with the clinically defined disease.We found a high incidence of subjects (50%) with abnormal chromosomes, showing premature centromere division of the X chromosome and structural aberrations, translocations, or deletions that could suggest preferential breakpoints.Correlation between clinical and cytogenetic data showed that cytogenetic abnormalities were more common in patients with high frequency of relapse or with a progressive form of the disease.
C syndrome with apparently normal development
Authors: Stratton Robert F. , Sykes Norman J. , Hassler Terence W. 
Published: June 2005

AbstractC syndrome is an autosomal recessive craniosynostosis syndrome with characteristic cranial, facial, palate, and joint abnormalities. All but 2 of the reported patients have had severe mental retardation. We report on an 8‐month‐old girl with C syndrome and apparently normal development except for tasks hindered by her lower body abnormalities. We also offer a possible explanation for the palatal configuration.
Deletion of 16q with prolonged survival and unusual radiographic manifestations
Authors: Casamassima Anthony C. , Klein Robert M. , Wilmot Patrick L. , Brenholz Pauline , Shapiro Lawrence R. 
Published: June 2005

AbstractDeletion of 16q is characterized by mental retardation, microcephaly, a characteristic combination of minor facial anomalies, and broad halluces. Various break points have been described. This patient's phenotype is typical of this syndrome, but in addition, unusual radiographic findings were present. This chromosome abnormality is compatible with survival into adulthood. Expression of this phenotype does not appear to be correlated with specific break points.
Application of a flowchart for the detection of lysosomal storage diseases in 105 high‐risk Brazilian patients
Authors: Barth Maria Luiza , Giugliani Roberto , Goldenfum Sandra L. , Munarski Roberta , Folberg Adriana , Lekhwani Chandra , Slade Christina , Fensom Anthony H. 
Published: June 2005

AbstractLysosomal storage diseases (LSD) are a group of more than 40 disorders, many of them with overlapping phenotype, in which clinical diagnosis is often difficult. Definitive diagnosis is based on enzyme assays, a large number of such assays usually being necessary during the investigation of each patient. In addition, there will frequently be a need for tissue culture in order to provide enough material for analysis. Taking into account these difficulties, we designed a flowchart for the detection of LSD that is based on 2 sets of tests requiring only random urine and heparinized blood. Here we describe this routine and report the results of its application to 105 Brazilian patients in whom a LSD was suspected. We think that the application of this rationale represents a saving of work and costs, and should be of special interest to genetic centers in developing countries.
New study on the relationship between oral clefts and fetal loss
Authors: Menegotto Beatriz G. , Salzano Francisco M. 
Published: June 2005

AbstractThe sibships of 741 non‐syndromic individuals with cleft lip with or without cleft palate (CL ± P), those of 115 subjects with isolated cleft palate (CP), plus 2 series of controls of the same size were studied in a variety of ways. The 2 most significant findings were (a) a higher fetal loss in the sibships of probands of the most frequently affected sex (CL ± P: male; CP: female) and (b) increased fetal mortality in the sibships with sporadic cases of CL ± P when compared to that found in sibships with more than one affected. In general the result do not support the hypothesis of a causal relationship between fetal death and non‐syndromic CL ± P or CP.
Euchromatic 16p + heteromorphism: First report in North America
Authors: Jalal S. M. , Schneider Nancy R. , Kukolich Mary K. , Wilson Golder N. 
Published: June 2005

AbstractA heteromorphism of the short arm of 16 (16p+) was discovered in 2 unrelated infants. By G banding, the euchromatic variant appears as a light and a medium dark band just distal to the centromere. This results in an increase of the short arm by about 1/3. The same variant was present in the normal father and the normal paternal grandmother in one family and mildly retarded mother in the 2nd family. The anomalies of the 2 infants are not similar and are apparently unrelated to the 16p + variant. Though the discovery of such euchromatic variants is highly significant for clinical diagnosis, their genetic significance and mode of origin remain to be elucidated.
Monochorionic diamniotic minimally conjoined twins: A case report
Authors: Weston P. J. , Ives E. J. , Honore R. L. H. , Lees G. M. , Sinclair D. B. , Schiff D. 
Published: June 2005

AbstractWe present the second case of monochorionic diamniotic (MC/DA) conjoined twins. There was minimal conjunction, which was predominantly extrafetal and confined to the periumbilical ventral region. The omphalopagus twins, attached to a single forked umbilical cord, were connected by a shared umbilical hernia containing the ileum of twin B. The only visceral conjunction, located just within the belly of twin A, was midileal with the 2 separate ileums converging toward a short segment of shared muscularis propria and of side‐to‐side fistulization. Gastrointestinal and musculoskeletal anomalies were present in both twins with severe amyoplasia and arthrogryposis multiplex in twin A. Possible mechanisms underlying this unusual form of MZ twinning are discussed.
Combined deficiency of β‐galactosidase and neuraminidase: Natural history of the disease in the first 18 years of an American patient with late infantile onset form
Authors: Strisciuglio Pietro , Sly William S. , Dodson W. Edwin , McAlister William H. , Martin Thomas C. 
Published: June 2005

AbstractWe describe the clinical findings over the first 18 years of a patient with a novel phenotype for galactosialidosis, the storage disease produced by the combined deficiency fo β‐galactosidase and neuraminidase. Clinical findings in the first few months included somewhat unusual appearance and hepatosplenomegaly. Dysostosis multiplex was evident by age 2 1/2 years. Mitral and aortic valvular disease appeared over the next few years and cardiac disease has become the most important clinical problem. Foam cells were present in the bone marrow, and vacuolated lymphocytes were present in the peripheral blood smear. The patient had no neurological symptoms, cherry red spots, or intellectual deterioration during the first 18 years. Evidence presented elsewhere indicates that the basic defect in this late infantile form of galactosialidosis (as is thought to be true for the other forms of galactosialidosis) is a reduced amount of the 32 kDa phosphoglycoprotein which associates with β‐galactosidase and α‐neuraminidase in lysosomes.
Alveolar synechia, ankyloblepharon, and ectodermal disorders: An autosomal recessive disorder?
Authors: Ohishi Masamichi , Kai Sadako , Ozeki Satoru , Tashiro Hideo 
Published: June 2005

AbstractA male patient with alveolar synechia and ankyloblepharon filiforme adnatum is reported. He also had bilateral commissural lip pits, inferiorly attached frenulum, generalized hypo‐plastic nails, and wooly scalp hair. He was a product of consanguineous parents. The disease seemed to be an autosomal recessive syndrome with heterozygote expression.
Roberts syndrome with normal cell division
Authors: Keppen Laura Davis , Gollin Susanne M. , Seibert Joanna J. , Sisken Jesse E. 
Published: June 2005

AbstractRoberts‐SC phocomelia syndrome (RS) is an autosomal recessive disorder of symmetric limb defects, craniofacial abnormalities, pre‐and postnatal growth retardation, and mental retardation. Patients with RS have been reported to have premature separation of heterochromatin of many chromosomes and abnormalities in the cell‐division cycle. We report an infant whose clinical and radiologic findings resemble those of RS but who lacks the cytogenetic and cell division abnormalities reported in RS. This patient may represent a variant of RS or a new syndrome.
Recurrent tetraamelia and pulmonary hypoplasia with multiple malformations in sibs
Authors: Rosenak D. , Ariel I. , Arnon J. , Diamant Y. Z. , Chetrit A. Ben , Nadjari M. , Zilberman R. , Yaffe H. , Cohen T. , Ornoy A. 
Published: June 2005

AbstractA term amelic female infant was born to an apparently nonconsanguineous Arab Moslem couple. This was followed by the birth of 4 normal children. Afterwards, in 2 subsequent pregnancies, 2 amelic fetuses were diagnosed by transabdominal ultrasonography in the 18th and 12th week of gestation. Pregnancies were terminated and on autopsy both amelic fetuses had severe lung hypoplasia and aplasia of the peripheral pulmonary vessels. The first fetus also had apparently low‐set ears and micrognathia, whereas the last had hydrocephaly and left cleft lip beside the lung hypoplasia and aberrant pulmonary artery. This appears to be a new autosomal recessive malformation syndrome.
Diagnosis of Angelman syndrome in infants
Authors: Fryburg Julie Shapiro , Breg W. Royxs , Lindgren Valerie 
Published: June 2005

AbstractThe diagnosis of Angelman syndrome (AS) has seldom been made in infants because the previously described characteristic manifestations usually are not apparent until after age 2 years. We describe 4 AS patients, one of whom has oculocutaneous albinism, who were < 2 years old when first evaluated. All 4 have deletions of the region q11.2‐q13 of chromosome 15. In the 3 cases in which parents were available for study the deleted chromosome 15 was maternally derived, as determined by cytological markers.All of the patients presented with severe to profound global developmental delay and postnatal‐onset microcephaly; they had seizures, hypotonia, hyperreflexia, and hyperkinesis. All were hypopigmented as compared to their relatives. Each had eye abnormalities; all had choroidal pigment hypoplasia. None were initially described as having an abnormal appearance.We believe that AS is far more common than previously thought and present these 4 children to emphasize the manifestations that may be helpful in making the diagnosis in the young patient. We also emphasize the hypopigmentation that patients with AS frequently have, including what we think is the first reported case of albinism and AS.
Aicardi syndrome: Early neuroradiological manifestations and results of DNA studies in one patient
Authors: Nielsen Karen Bröndum , Anvret Maria , Flodmark Olof , Furuskog Peter , Bohman‐Valis Kjersti 
Published: June 2005

AbstractA patient with Aicardi syndrome is presented. We report results of DNA analysis from the patient and her parents with probes mapped to Xp21.3–22.3 in an attempt to localize a deletion in this region. No signs of a microdeletion could be detected, using 5 different DNA markers. Further, it is suggested that a specific combination of cerebral abnormalities may be characteristic of the syndrome and that antenatal ultrasonographic diagnosis may be feasible.
An infant with deletion of the distal long arm of chromosome 15 (q26.1→qter) and loss of insulin‐like growth factor 1 receptor gene
Authors: Roback Ellen W. , Barakat Amin J. , Dev V. G. , Mbikay Majambu , Chrétien Michel , Butler Merlin G. 
Published: June 2005

AbstractWe report on an infant with a previously undescribed chromosome 15 deletion (q26.1→qter) and compare the clinical findings with those of 7 reported patients with deletions of distal 15q, as well as ring chromosome 15 syndrome patients. Most of the patients with deletions of distal 15q, including our patient, have intrauterine growth retardation (IUGR), microcephaly, abnormal face and ears, micrognathia, highly arched palate, renal abnormalities, lung hypoplasia, failure to thrive, and developmental delay/mental retardation. Several genes have been assigned to the 15q25→qter region, including insulin‐like growth factor 1 receptor (IGF1R). DNA analysis from our patient documented the loss of one IGF1R gene copy. Our study further localizes the IGF1R gene distal to the 15q26.1 band. It is interesting to speculate that the severe IUGR and postnatal growth deficiency of our patient and other patients with similar chromosome 15 deletions are related to the loss of an IGF1R gene copy which may lead to an abnormal number and/or structure of the receptors.
Familial occurrence of Duchenne dystrophy through paternal lines in four families
Authors: Zatz Mayana , Passos‐Bueno Maria Rita , Rapaport Debora , Vainzof Mariz 
Published: June 2005

AbstractIn a survey of 454 families with patients affected with Duchenne muscular dystrophy (DMD) we have found 4 genealogies with 2 or more affected patients who were related through paternal lines. In 1 of these families, 2 affected cousins showed different DNA deletions suggesting 2 independent mutations; in the other 2, in which only the propositus could be studied, DNA deletions were also detected in the dystrophin gene. In the last one, with 3 affected patients, no DNA deletions were detected but immunohistochemical study of muscle biopsies showed a negative dystrophin pattern typical of DMD.Although one of these families might have occurred by chance, the probability of finding the other 3 in our sample of families with DMD patients constitutes a rare event. It is suggested that other mechanisms, such as the presence of transposable elements in other sites of the genome, could be responsible in some families, for a greater predisposition for the occurrence of pathogenic deletions, duplications or mutations.
Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty‐two Japanese male patients with ornithine transcarbamylase deficiency
Authors: Matsuda I. , Nagata N. , Matsuura T. , Oyanagi K. , Tada K. , Narisawa K. , Kitagawa T. , Sakiyama T. , Yamashita F. , Yoshino M. 
Published: June 2005

AbstractIn a retrospective survey done from 1978–1988 in Japan, 32 male patients with ornithine transcarbamylase (OTC) deficiency were identified. We classified a neonatal and 2 late‐onset groups, depending on clinical manifestations and the age at onset; group 1 (0–28 days; N = 10), group 2 (29 days–5 years; N = 13), and group 3 (<5 years; N = 9). Compared to findings in the group 2 patients, there was a higher rate of mortality and a higher incidence of mental retardation in association with a great decrease in enzyme activity in group 1. In group 3, the mortality rate and enzyme activities were similar to those in group 1. However, patients in this group were asymptomatic prior to the first episode. Enzyme activities were measured mostly in autopsy samples. The serum citrulline levels (enzyme product) were highest in this group. Thus, the mutant enzymes were apparently labile with greater activities in vivo than in vitro. Treatments, including a protein‐restricted diet, arginine supplementation, and sodium benzoate administration, resulted in a favorable prognosis for survivors with partial enzyme deficiency. We wish to emphasize that the incidence of late onset of this disease is higher than heretofore considered.