bluuebunny/crossref_metadata_2025_split huggingface dataset:
Sporadic case of apparent aprosencephaly
Authors: Adkins W. N. , Kaveggia Elisabeth G. 
Published: June 2005

AbstractWe report a sporadic case of apparent aprosencephaly, ie, apparent absence of forebrain with the facial anomalies of the (alobar) holoprosencephaly field complex. The infant lived 14 months, manifested temperature variations between 34.5 and 41.7°C, and suffered at least one episode of severe hyponatremia suggesting hypoaldosteronism of brain or adrenal origin. Eye changes were suggestive of Rieger mesodermal dysgenesis.
The Dubowitz syndrome: The psychological status of ten cases at follow‐up
Authors: Parrish J. M. , Wilroy R. S. , Lowry R. Brian 
Published: June 2005

AbstractWe report the psychological status of ten people with the Dubowitz syndrome, an autosomal recessive condition characterized by intrauterine and postnatal growth retardation, microcephaly, and high‐pitched hoarse voice. Results indicate that the level of intellectual functioning among children with Dubowitz syndrome varies from severe retardation to average intelligence. Our patients have delays in the development of memory, reasoning, expressive vocabulary, fine motor development, and receptive vocabulary, in order of ascending frequency. Data regarding growth status, level of adaptive functioning, and presence of behavioral deficits are also presented.
Prenatal diagnosis of neural tube defects: Predictive value of AF‐AFP in a low‐risk population
Authors: Fisher Nancy L. , Luthy David A. , Peterson Alan , Karp Laurence E. , Williamson Roger , Cheng Edith , Opitz John M. 
Published: June 2005

AbstractAmniotic fluid alpha‐fetoprotein (AF‐AFP) determinations were performed on 1,215 women who were at low risk for fetal neural tube defects and who were undergoing mild‐trimester amniocentesis for cytogenetic indications, primarily age‐related aneuploidy. Maternal sera obtained before amniocentesis and amniotic fluids were assayed in duplicate for alpha‐fetoprotein by radio‐immunoassay. Of the 1,215 low‐risk women, eight (0.7%) had significant elevations of AF‐AFP (≥ +5 SD). In none of the cases was the elevation associated with a fetal neural tube defect. Two cases with elevated AF‐AFP were associated with chromosome aberrations; one with impending fetal demise; one with fetal blood contamination; and one case was due to a laboratory error. In one case, no source for the elevated AFP was found, and a normal infant was delivered at term. In the final two cases, the cause of the elevated AF‐AFP was a fetal abdominal wall defect (one gastroschisis and one omphalocele). The predictive value of an elevated AFP varies with the population screened, and is reduced by routine ultrasonography before amniocentesis, which at least identifies anencephaly. In a low‐risk population, an elevated AF‐AFP is most often not associated with a fetal neural tube defect. Because of the low predictive value and the nonspecificity of AF‐AFP, genetic counselors should reconsider the recommendation of routine AF‐AFP in low‐risk maternal populations.
Hepatic involvement in the Bardet‐Biedl syndrome
Authors: Pagon Roberta A. , Haas Joel E. , Bunt Ann H. , Rodaway Keith A. , Opitz John M. 
Published: June 2005

AbstractA 12‐year‐old boy with the Bardet‐Biedl syndrome (retinal dystrophy, polydactyly, mental retardation, and mild obesity) died of renal failure and was found to have hepatic fibrosis. Nephropathy and hepatic fibrosis in the Bardet‐Biedl syndrome suggest pathogenetic similarity of autosomal recessive disorders in which retinal dystrophy, hepatic fibrosis, and a nephronophthisis‐like disorder are associated.
Monozygotic twins discordant for Ullrich‐Turner syndrome
Authors: Weiss Edra , Loevy Hannelore , Saunders Antoinette , Pruzansky Samuel , Rosenthal Ira M. , Opitz John M. 
Published: June 2005

AbstractUllrich‐Turner syndrome occurred in one of a pair of female twins. The chromosome constitution of the affected twin was 45,X/46,XX and that of the normal twin 46,XX. Investigation of banded chromosomes, red cell antigens, HLA types, red cell enzymes, and serum proteins indicates monozygosity. The twins are discordant for height, pterygium colli, ovarian function, strabismus, dental eruption, external ear formation, hearing loss, and performance scores on the Wechsler Intelligence Test. All of these differences can be attributed to X monosomy in one cell line in the affected twin, presumably resulting from mitotic nondisjunction or anaphase lag early during embryonic development. Ten other pairs of apparently monozygotic twins discordant for the Ullrich‐Turner syndrome have been reported previously, and the findings in these cases are reviewed.
A 15 → 1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11)
Authors: Wulfsberg Eric A. , Sparkes Robert S. , Klisak Ivana J. , Gurfield William B. , Opitz John M. 
Published: June 2005

AbstractWe report a patient with a 15 → 1 translocation who was mosaic for presence or absence of an isodic(15p)(q11). Her phenotype is similar to that of patients with deletions of proximal 15q or isodic(15p). Several phenotypes, including the Prader‐Labhart‐Willi syndrome, have been described with abnormalities of proximal 15q and have in common severe hypotonia, developmental delay, and lack of major congenital anomalies. Our patient is the first to be described with an isodic (15p)(q11) associated with a nonreciprocal translocation. We think her isodic(15p)(q11) arose as a result of a sister chromatid fusion rather than nonsister chromatid exchange as has been proposed in most other cases. Because of the various phenotypes described with proximal 15q abnormalities, we recommend caution in the assignment of specific phenotypes to small chromosome changes in this area.
Homozygous achondroplasia with survival beyond infancy
Authors: Pauli Richard M. , Conroy Mary M. , Langer Leonard O. , McLone David G. , Naidich Thomas , Franciosi Ralph , Ratner Ian M. , Copps Stephen C. , Opitz John M. 
Published: June 2005

AbstractHomozygous achondroplasia has been thought to be uniformly lethal in the neonatal period. We describe three children, born to achondroplastic parents, who were homozygous for this disorder but who survived beyond early infancy. Two died suddenly at 37 and 33 mo; the third survives at 29 wk. At least in some instances aggressive treatment may allow others with this condition to survive with a reasonable quality of life.
The cerebrohepatorenal syndrome of Zellweger, morphologic and metabolic aspects
Authors: Kelley Richard I. 
Published: June 2005

AbstractThe cerebrohepatorenal syndrome of Zellweger (CHRS) is remarkable not only for a distinctive combination of congenital anomalies, but also for an unusual variety of profound metabolic disturbances. After a discussion of the clinical diagnosis of CHRS, abnormalities in the metabolism of peroxisomes, mitochondria, iron, pipecolic acid, glycogen, bile acids, and organic acids are discussed and related to the clinical and other biochemical findings in the syndrome. Attention is also drawn to syndromes with biochemical or clinical abnormalities similar to those of CHRS. Although the biochemical findings indicate major abnormalities in oxidative metabolism, the primary defect remains obscure.
Reproductive risks for translocation carriers: Cytogenetic study and analysis of pregnancy outcome in 58 families
Authors: Neri Giovanni , Serra Angelo , Campana Mauro , Tedeschi Bruna 
Published: June 2005

AbstractHere we report on studies of the reproductive risks for heterozygous carriers of chromosome translocations. Pregnancy outcome, breakpoints, mode of segregation of the translocated chromosomes, and resulting chromosome imbalance were analyzed in 58 families (46 with reciprocal and 12 with Robertsonian translocations) ascertained for birth of a malformed child, recurrent spontaneous abortion, or hypogonadism. These families include a total of 122 informative sibships. The analysis of the data, after correction for ascertainment bias, showed that the incidence of spontaneous abortion is nearly 50% in reciprocal and between 20 and 25% in Robertsonian translocation families ascertained for malformed child or recurrent abortion. The risk of malformed infants with unbalanced genome is approximately 6% among the liveborn offspring of reciprocal translocation carriers and 23% among the liveborn offspring of carrier mothers of t(14q21q). The distribution of the breakpoints on the chromosomes involved in reciprocal translocations ascertained through a malformed child is nonrandom, with an excess on chromosomes 5, 9, 13, and 15. The study of chromosome imbalance, expressed as gain or loss of a portion of genetic information relative to the total haploid autosome length (percent HAL), shows that among the common types of disjunction‐segregation leading to unbalanced gametes, adjacent 1 seems to be the one producing on the average the least level of genome imbalance. This explains why it is the most frequently observed type of segregation giving rise to gametes from which subjects with a chromosome imbalance compatible with life can be generated.
Ring chromosome 6: Variability in phenotypic expression
Authors: Peeden J. N. , Scarbrough P. , Taysi K. , Wilroy R. S. , Finley S. , Luthardt F. , Martens P. , Howard‐Peebles P. N. , Opitz John M. 
Published: June 2005

AbstractWe present four children with a ring chromosome 6. Clinically, these cases are quite variable. A review of ten previously reported cases also suggests difficulty of phenotype‐karyotype correlation in patients with a ring 6.
The inheritance of immunoglobulin E: Genetic linkage analysis
Authors: Meyers D. A. , Hasstedt S. J. , Marsh D. G. , Skolnick M. , King M.‐C. , Bias W. B. , Amos D. B. , Opitz John M. 
Published: June 2005

AbstractLinkage analyses between 21 genetic markers including HLA‐A, B, and the postulated locus for determining total serum IgE levels were done to try to clarify the inheritance of total IgE levels and to map the locus. A total of 316 individuals from five Mormon kindreds were studied, and data from an additional 204 Amish individuals from 11 families were analyzed for possible HLA linkage. Segregation analyses of both data sets did not give clear definition of the mode of inheritance of total IgE levels, but purely environmental models were rejected. Linkage analyses gave significant evidence against HLA linkage with the codominant, recessive, or dominant model of inheritance for total IgE levels. No significant evidence for linkage with any of the genetic markers was obtained. Since total serum IgE levels are correlated with allergies, understanding the genetics of total IgE levels is important to understanding the genetics of allergic disease in man.
Teratogenicity of anticonvulsant drugs. II: A prospective study
Authors: Kelly Thaddeus E. , Edwards Pamela , Rein Marjorie , Miller James Q. , Dreifuss Fritz E. 
Published: June 2005

AbstractTo 468 women with epilepsy enrolled in the study, 171 children were born and evaluated prospectively. The mothers in this group were characterized by low socioeconomic status, high frequency of tonic‐clonic generalized seizures, and use of combinations of anticonvulsants. Approximately 30% of infants exposed to diphenylhydantoin in utero had minor craniofacial and digital changes. The infants did not show an increased rate of growth retardation, mental retardation, or major malformations. It is suggested that the nature of the association of birth defects and maternal epilepsy is complex and that the teratogenicity of anticonvulsant drugs plays only a minor role in this association. The sample size necessary to demonstrate a two‐ to threefold increase in malformations is beyond the capability of a single center.
Teratogenicity of anticonvulsant drugs. III: Radiographic hand analysis of children exposed in utero to diphenylhydantoin
Authors: Kelly Thaddeus E. 
Published: June 2005

AbstractAs part of a prospective study of the teratogenicity of anticonvulsant drugs, hand radiographs were obtained on 51 children born to epileptic mothers. The phalanges and metacarpals were measured and a diagnosis of distal digital hypoplasia (DDH) was made if the distal phalangeal to other digital bone ratio was more than 2 SD below the mean for age in at least two of the digits. By these criteria, roughly 30% of infants exposed to diphenylhydantoin in utero demonstrate DDH; this was in close agreement with the clinical diagnosis of DDH. The data suggest that there is no familial tendency to the expression of this teratogenicity, there is no sex influence, there is no difference between exposure to diphenylhydantoin alone and diphenylhydantoin in combination with other anticonvulsants, and that the digital changes occur most often in the absence of other sequelae of in utero exposure to diphenylhydantoin.
Teratogenicity of anticonvulsant drugs. IV: The association of clefting and epilepsy
Authors: Kelly Thaddeus E. , Rein Marjorie , Edwards Pamela 
Published: June 2005

AbstractCleft lip with or without cleft palate (CL/P) is the most common congenital malformation reported among infants of epileptic mothers. This study sought to examine the relative roles of anticonvulsant teratogenicity and other factors responsible for this association. Among 175 families with a proband with isolated CL/P, there were 13 parents with epilepsy and a high frequency of other family members with CL/P and epilepsy. Evaluation of the 13 cases suggested that teratogenicity of anticonvulsant drugs was not the primary factor responsible for the observed association of maternal epilepsy and clefting. Among 140 families with a proband with clefting other than CL/P, there were no instances of parental epilepsy observed.
Familial recurrence of geleophysic dysplasia
Authors: Koiffmann C. P. , Wajntal A. , Ursich M. J. M. , Pupo A. A. 
Published: June 2005

AbstractWe describe a girl with the manifestations of geleophysic dwarfism: small stature, a peculiar but pleasant and good‐natured facial appearance, a dysostosis‐multiplexlike bone dysplasia affecting predominantly hands and feet, hepatomegaly and stenosis, and insufficiency of the aortic valve. The proposita's sister died of heart failure at 3 years and was reported by the mother to have been a tiny child with small hands.
Geleophysic dysplasia
Authors: Spranger Jürgen , Gilbert Enid F. , Arya Sunita , Hoganson George M. I. , Opitz John M. 
Published: June 2005

AbstractOn the basis of three affected sibs and one isolated case from the literature geleophysic dysplasia is defined as an acrofacial dysplasia with a peculiar, good‐natured facial appearance, short hands and feet due to short, plump tubular bones, small stature, and progressive valvular cardiac disease. It seems to be a hereditary disorder of glycoprotein metabolism with autosomal recessive transmission.
Direct intrachromosomal duplication of 16q and heritable fragile site fra (10) (q25) in the same patient
Authors: Romain Dennis R. , Frazer Allan G. , Columbano‐Green Letizia M. , Parfitt Richard G. , Smythe Rosalind H. , Chapman Cyril J. 
Published: June 2005

AbstractWe describe a woman with profound mental retardation and a direct duplication of 16q and fragile site fra (10)(q25). The identification and possible origin of the duplicated 16q is discussed along with the clinical manifestations. To our knowledge this is the first direct duplication of 16q to be reported. The karyotype is shown to be 46,XX, dir dup (16) (q11.2 → q13).
Linkage relationships between a major gene for catechol‐o‐methyltransferase activity and 25 polymorphic marker systems
Authors: Wilson A. F. , Elston R. C. , Siervogel R. M. , Weinshilboum Richard , Ward L. J. 
Published: June 2005

AbstractSegregation analysis has provided evidence suggesting the existence of a major gene for catechol‐o‐methyltransferase (COMT) activity in man. Five large families (4 Caucasian, 1 black), with a total of 1,189 individuals, were ascertained as part of a genetic study of blood pressure. Erythrocyte COMT activity and status at 25 polymorphic genetic marker loci were determined on more than 518 individuals in these pedigrees. Genetic linkage analysis of COMT with each of the 25 marker loci was performed in two ways: (1) using parameter estimates from segregation analysis of untransformed COMT activity, and (2) using parameter estimates from segregation analysis of the power transformation of the COMT activity that maximized the likelihood of the genetic hypothesis in each family. Tight and close linkage were excluded at 21 and 15 loci, respectively. A lod score of 1.27 at θ = 0.1 was found between the loci for COMT activity and phosphogluconate dehydrogenase (PGD). Transformation of the data had little effect on the outcome of the linkage analysis.
Genetic causes of chronic musculoskeletal disease in childhood are common
Authors: Gregory Diana , Kaplan Paige , Scriver Charles R. 
Published: June 2005

AbstractWe surveyed admissions to a pediatric orthopedics hospital for calender years 1957 (polio era) and 1982 (post‐polio era). The relative importance of genetic causes of musculoskeletal disease increased after poliomyelitis immunization became universal. Admissions for musculoskeletal disease with a genetic cause (chromosomal, Mendelian, multifactorial, and familial) accounted for 45% of the total in 1957 and 57% in 1982 (p < 0.02); non‐genetic causes were 44% in 1957 and 28% in 1982 (p < 0.001). The high probability of recurrent disease in the families of these patients implies that genetics has an important place in the provision of services and in the education of staff in pediatric orthopedic hospitals.
Clinical and biochemical characteristics of prolidase deficiency in siblings
Authors: Freij Bishara J. , Levy Harvey L. , Dudin Gertrud , Mutasim Diya' , Deeb Mary , Der Kaloustian Vazken M. 
Published: June 2005

AbstractTwo brothers with recurrent skin ulcers of the lower limbs, subnormal intelligence, developmental abnormalities, and poliosis were found to excrete large quantities of several imidodipeptides in their urine. Glycylproline was the most prominent imidodipeptide excreted and was also detected in their blood. Prolidase activity was markedly deficient in red blood cells from both patients (4.1% and 3.7% of control mean) and skin fibroblasts from the one brother so examined (3.7% of control mean). A total of 20 patients with prolidase deficiency, including the two in this report, have been described in the literature. Their manifestations and various attempts at treatment are reviewed.
Genetic linkage analysis of epidermolysis bullosa simplex, Köbner type
Authors: Mulley J. C. , Nicholls C. M. , Propert D. N. , Turner T. , Sutherland G. R. 
Published: June 2005

AbstractGenetic linkage relationships between a range of marker loci and the locus for epidermolysis bullosa simplex (EBS), Köbner type, were examined in a single kindred. A positive lod score of 1.2 at θ = 0.2 was found for Fy. To test the clinical observation that Köbner and Weber‐Cockayne types may be the same disease determined by different alleles, published lod scores from definite Weber‐Cockayne families were added to those from this study. A lod score of 1.8 was found at θ = 0.2. This value falls to 1.5 at θ = 0.2 when all families other than Ogna type are included. The Köbner variant studied is not closely linked to GPT and is therefore distinct from EBS1 (Ogna type). Linkage analysis is consistent with an hypothesis that Köbner and Weber‐Cockayne types are determined by a single locus; however, further evidence is needed before this locus can be designated EBS2 and assigned to chromosome 1.
An autosomal recessive disorder with glomerular basement membrane abnormalities similar to those seen in the nail patella syndrome: Report of a kindred
Authors: Salcedo Jose R. 
Published: June 2005

AbstractWe present a 9‐year‐old boy, the product of a consanguineous marriage, with proteinuria, edema, and microscopic hematuria with mild renal impairment since age 2 yr. Renal biopsy showed the histopathologic electron microscopic changes seen in hereditary osteo‐onchyodysplasia (HOOD) [Hoyer et al, 1972; Bennet et al, 1973; DelPozo and Lapp 1970; Vernier et al, 1974; Morita et al, 1973] or “nail‐patella syndrome.” Neither the patient nor his relatives had bone or nail abnormalities; however, 2 other sibs had died of complications of end‐state renal disease at age 6 and 9, leading us to suspect autosomal recessive inheritance of a severe nephropathy or glomerulodysplasia.
Biochemical genetics of the Lapland dog model of glycogen storage disease type II (acid α‐glucosidase deficiency)
Authors: Walvoort Hendrik C. , Slee Regina G. , Sluis Koos J. , Koster Johan F. , Reuser Arnold J. J. 
Published: June 2005

AbstractA recently described canine model (Lapland dog) of glycogen storage disease type II (GSD II, Pompe disease, acid α‐glucosidase deficiency) was identified with several biochemical genetic methods. Complementation studies in which fibroblasts from a GSD II dog were fused with fibroblasts derived from control dogs and from human patients with different clinical forms of the disease did not lead to restoration of acid α‐glucosidase activity in the heterokaryon cell populations. These results indicate that acid α‐glucosidase deficiency is the primary defect in canine GSD II and that there is a close genetic parallelism with human GSD II. Immunotitration analysis of the residual acid α‐glucosidase activity in the canine GSD II fibroblasts and liver demonstrated that this residual activity was not due to acid α‐glucosidase enzyme, in which respect canine GSD II was similar to the infantile form of the human disease. Double immunodiffusion studies showed the presence of catalytically inactive acid α‐glucosidase enzyme protein in canine GSD II. This is consistent with a structural gene mutation. It is concluded that canine GSD II in the Lapland dog is a homologous model of the infantile form of human GSD II, a conclusion in concordance with clinical and pathological studies.
Hypospadias in British Columbia
Authors: Leung T. J. , Baird P. A. , McGillivray B. 
Published: June 2005

AbstractThe British Columbia Health Surveillance Registry (BCHSR) records the frequency, incidence, and distribution of congenital malformations and other disabilities among individuals within the province using multiple sources of ascertainment. The most important sources of ascertainment for this study were Physician's Notice of Birth forms and discharge diagnosis from all hospitals in the province on children 7 years old or younger. These data were used to determine the minimal incidence of hypospadias with and without other congenital anomalies in order to provide information useful in management and to establish baseline prevalence data on a common genital malformation. In addition, incidence over time was evaluated.The study found the minimal incidence of hypospadias in British Columbia to be 4.44 per 1,000 male live births (1,314 cases out of 295,656 male live births) during 1966–1981. This is in the previously reported range of the incidence of hypospadias (2–8.2 per 1,000 male live births). Hypospadias was the only malformation in almost 80% of all individuals identified.The most frequent additional anomalies involved the genital and inguinal regions (7.2% of all cases or 36% of cases with additional anomalies). Cardiac lesions were the next most common anomalies, representing 14% of those cases with additional anomalies. Limb malformations and gastrointestinal anomalies were also quite common, representing 12.1% and 9.1% of cases of hypospadias with additional anomalies, respectively.Thus, 1 in 225 males born in British Columbia has some degree of hypospadias, and 20% of these infants also have at least one other anomaly.
Pulmonary and diaphragmatic agenesis: Report of affected sibs
Authors: Toriello Helga V. , Higgins James V. , Jones Alan S. , Radecki Leonard L. 
Published: June 2005

AbstractWe report on two sibs with pulmonary and diaphragmatic agenesis, a rare combination of malformations. We conclude that this represents a previously undescribed autosomal recessive condition affecting either multiple developmental fields or a single complex polytopic field.