bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of cystic fibrosis by using linked DNA markers in 138 pregnancies at l‐in‐4 risk
Authors: Feldman G. L. , Lewiston N. , Fernbach S. D. , O'Brien W. E. , Williamson R. , Wainwright B. J. , Beaudet A. L. 
Published: June 2005

AbstractPrenatal diagnosis was carried out in 138 pregnancies at 1‐in‐4 risk for cystic fibrosis (CF) by using closely linked DNA markers, including XV‐2c and KM‐19. In fully informative families, 25 of 123 (20%) fetuses were predicted to be affected; 16 of these 25 pregnancies were terminated and 9 were continued. Postnatal sweat tests are completed in 42 cases; the diagnoses were confirmed in 4 of 4 infants predicted to be affected and in 37 of 38 infants predicted to be unaffected. One infant predicted to be a carrier had an abnormal sweat test after birth, but the mother also had an abnormal sweat test, and there was no evidence of an error in linkage analysis. The data indicate that prenatal diagnosis using linkage analysis is fully informative in most families and is highly reliable with either chorionic villus sampling or amniocentesis. Although Outcome data are available on only 42 pregnancies, based on our experience, on general principles of linkage of the known DNA markers with CF we recommend that DNA analysis replace microvillar intestinal enzyme analysis for 1‐in‐4 risk pregnancies when DNA is available from the propositus.
Epilepsy and clefting disorders: Lack of evidence of a familial association
Authors: Hecht Jacqueline T. , Annegers J. Fred , Kurland Leonard T. 
Published: June 2005

AbstractOffspring of women with epilepsy who are taking anticonvulsant medications have an increased incidence of clefting abnormalities. However, there is disagreement as to the extent to which this increase is due to a teratogenic effect of anticonvulsant medications or to a familial association of epilepsy and clefting. Some investigators suggested, but were unable to demonstrate adequately, that clefting and epilepsy associate together in families. In order to address this issue, individuals with a clefting disorder and their relatives were ascertained to determine whether clefting and epilepsy aggregate together in families. The incidence of epilepsy was not increased over that in the general population with a standardized morbidity ratio (SMR) for epilepsy of 0.9 (95% CI 0.2–2.6) for first‐degree relatives (excluding parents) and 0.0 for second‐degree relatives. The SMRs ranged from 0.7–2.2 for the individual relative types (parents 1.5, sibs 0.7, children 2.2) and were also not increased. These results do not support suggestions that clefting and epilepsy segregate together in families.
Estimation of fertility and fitness in Huntington disease in New England
Authors: Mastromauro Carol A. , Meissen Gregory J. , Cupples L. Adrienne , Kiely Dan K. , Berkman Barbara , Myers Richard H. 
Published: June 2005

AbstractThe advent of presymptomatic and prenatal testing in Huntington disease (HD) may change the reproductive behavior of persons at risk for HD. In order to assess future change, an analysis of fertility and reproductive fitness was carried out on 999 affected and 2,253 unaffected offspring from 235 New England families. Ascertainment biases observed for persons born before 1910 and after 1929 reduced the sample to 250 HD cases and 201 unaffected sib controls born between 1910 and 1929.No increase in reproductive rate was found in HD‐affected men compared to male control sibs. A small increase in fertility averaging 0.5 child was seen in HD‐affected females compared to unaffected females, but this difference was not significant. The increase in mean number of children for HD females is accounted for in part by a small number of affected women who had very large families. No evidence was found to suggest that any increase in reproductive rate for affected persons was related to offspring being born after HD onset. The fitness of both HD‐affected and unaffected females was not significantly different from that of the general population of Massachusetts.
Familial immotile‐cilia syndrome in English springer spaniel dogs
Authors: Edwards David F. , Kennedy John R. , Patton Clark S. , Toal Robert L. , Daniel Gregory B. , Lothrop Clinton D. 
Published: June 2005

AbstractA laboratory‐maintained colony of English springer spaniel dogs heterozygous for a putative autosomal recessive immotile‐cilia syndrome (ICS) has been studied. Matings between dogs thought to be heterozygous for ICS resulted in 22 pups, five (three males and two females) of which were homozygous for ICS. Four of the five ICS‐affected dogs had chronic rhinitis and bronchopneumonia. The other dog had a serious nasal discharge and died at 10 days. Four dogs had situs inversus totalis (Kartagener syndrome), and the two males of reproductive age were azoospermic. In the two ICS dogs studied for ciliary function, in vivo mucociliary clearance was absent, and in vitro ciliary beat was rarely observed and of low frequency. Scanning and transmission electron microscopy disclosed the same lesions in respiratory cilia from all dogs with ICS, including random orientation and partial outer dynein arm deficiency. Four of five dogs with ICS had dilated lateral ventricles. One female pup with neonatal rhinitis and bronchopneumonia, situs solitus, and dilated lateral ventricles was presumed to be homozygous for ICS, but died without functional or structural confirmation of defective respiratory cilia. An autosomal recessive mode of inheritance for the ciliary defects and respiratory signs of ICS in these dogs is proposed.
Acrofacial dysostoses
Authors: Le Merrer M. , Cikuli M. , Ribier J. , Briard M. L. 
Published: June 2005

AbstractA female baby was born with phocomelia, bilateral cleft lip and palate, marked micrognathia, malar hypoplasia, absence of lower eyelids, and absence of external ears. Radiological examination showed hypoplastic pectoral and pelvic girdles, short humeri and femora, with absence of forearms and legs, and oligodactyly of upper limbs.Her mother has triphalangism of the left thumb and a hypoplastic right thumb with stiff metacarpophalangeal joint. She also has downward‐slanting palpebral fissures, malar hypoplasia, and deepset eyes.This observation offers an opportunity to revisit the acrofacial dysostoses syndromes, including Nager‐Reynier syndrome, Genée‐Wiedeman syndrome, and lethal forms.
Apparently previously undescribed X‐linked dominant syndrome with facial and skeletal anomalies
Authors: Kapur Saroj , Swinford Ann , Freimanis Atis K. , Lachman Ralph S. 
Published: June 2005

AbstractWe report on a syndrome of widow's peak, ptosis, skeletal abnormalities and other minor anomalies in a large family. The condition appears to be inherited in an X‐linked dominant fashion. No similar cases have been found in the literature, suggesting that this is a “new” syndrome. Study of 5 generations of the family documents information on the natural history of the condition.
Autosomal dominant inheritance of the Kabuki make‐up (Niikawa‐Kuroki) syndrome
Authors: Halal Fahed , Gledhill Robert , Dudkiewicz Aaron 
Published: June 2005

AbstractWe report on three individuals (two sibs and their father) with the Kabuki make‐up syndrome. The two sibs had congenital dislocation of the hips and all three individuals had short stature and the facial characteristics of the syndrome. To our knowledge this is the first report of familial occurrence of the Kabuki make‐up syndrome.
Immotile cilia syndrome including polysplenia, situs inversus, and extrahepatic biliary atresia
Authors: Gershoni‐Baruch Ruth , Gottfried Emanuel , Pery Menucha , Sahin Abdala , Etzioni Amos 
Published: June 2005

AbstractHere we report on 2 sibs with immotile cilia syndrome (ICS), born to consanguineous Arab parents. Both had the Kartagener triad. In addition, one sib had polysplenia and extraheptic biliary atresia. This observation, together with other literature reports, suggests that the occurrence of ICS with polysplenia and extrahepatic biliary atresia represent the result of a single dysmorphogenetic process. It is concluded that polysplenia and extrahepatic biliary atresia are rare and unusual manifestations of ICS.
Nager acrofacial dysostosis: Autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son
Authors: Hall Bryan D. 
Published: June 2005

AbstractA mild to moderately affected mother with Nager acrofacial dysostosis produced a severely affected phocomelic son. This apparent autosomal dominant transmission and the extreme variability dictates a reassessment of the genetics of Nager acrofacial dysostosis.
Autoimmune thyroid phenomena are not evidence for human lymphocyte antigen‐genetic heterogeneity in insulin‐dependent diabetes
Authors: Allen David B. , MacDonald Michael J. , Gottschall Jerome L. , Hunter Jay B. 
Published: June 2005

AbstractIt is well established that there is genetic heterogeneity between a human lymphocyte antigen (HLA)‐DR3‐associated allele and an HLA‐DR4‐associated allele in insulin‐dependent diabetes mellitus (IDDM). Equally well established are the association of DR3 with Graves' disease and other autoimmune disorders in nondiabetics and the increased prevalence of autoimmune thyroid disease in IDDM. Perhaps in large part because of these facts, it has been postulated that there are two major forms of classical IDDM—one form characterized by coexistent autoimmune disease, such as autoimmune thyroid disease which is associated with DR3, and another form not associated with additional autoimmune disorders, which is associated with DR4. Several studies have repudiated the idea of specific clinical findings in IDDM being associated exclusively with DR4. However, the DR3‐thyroid association in IDDM has not been investigated carefully. Therefore, in order to study this putative association, we divided a group of diabetic children into overlapping subgroups based on thyroid enlargement, antithyroid microsomal antibodies, acquired hypothyroidism, and no evidence of thyroid disease. The distributions of HLA‐DR3 and ‐DR4 among these subgroups did not differ from each other; nor did the distribution of the HLA alleles differ from those of randomly selected IDDM individuals. These results suggest that thyroid autoimmunity in IDDM is part of the IDDM “syndrome” and is associated with DR3 and DR4 to the same extent that IDDM without thyroid disease is associated with these two antigens. Thus, although genetic studies are consistent with the heterogeneity between DR3 and DR4 in IDDM, there is no HLA‐thyroid disease association to support this heterogeneity.
Congenital shortness of the costocoracoid ligament
Authors: Bamforth J. Stephen , Bell Michael H. , Hall Judith G. , Salter Robert B. 
Published: June 2005

AbstractWe report a large kindred in which individuals presented with fixation of the scapula to the first rib by a congenitally short costocoracoid ligament. Cosmetic deformity with rounding of the shoulder and loss of the anterior clavicular contour was the main concern of the affected individuals. Movements requiring rotation or retraction of the scapula were limited, although this did not interfere with normal activities. Surgical treatment consists of excision of the costocoracoid ligament and resulted in some correction of the cosmetic deformity. The pedigree supports an autosomal dominant mode of inheritance with variable expression. The abnormality results in a pectoral girdle which is reminiscent of that seen in the monotremes.
Atypical postaxial acrofacial dysostosis (AFD): Diabetic embryopathy or a new AFD syndrome?
Authors: Richieri‐Costa A. , Guion‐Almeida M. L. 
Published: June 2005

AbstractWe report on a Brazilian girl, born to a diabetic mother, and presenting with atypical pre/postaxial acrofacial dysostosis, nosologically related to the Genée‐Wiedemann syndrome. Clinical and genetic aspects of this acrofacial dysostosis and its relationship to diabetic embryopathy are discussed.
A case of de novo i(12p) with 12q whole‐arm translocation mosaicism
Authors: Marques‐de‐Faria Antonia Paula , Hackel Christine 
Published: June 2005

AbstractWe report a dup(12p) due to a de novo i(12p) in a girl with mosaicism for 12q whole‐arm translocations onto 7p, 7q, and 11q terminal regions. The dup(12p) syndrome was confirmed by clinical, cytogenetic, and LDH‐dosage studies.
Nocturnal rhythm of growth hormone in Duchenne patients: Effect of different doses of mazindol and/or cyproheptadine
Authors: Zatz Mayana , Rapaport Debora , Pavanello Rita C. M. , Rocha Jane M. L. , Vainzof Mariz , Nicolau W. 
Published: June 2005

AbstractHuman growth hormone (hGH) inhibition may be beneficial for Duchenne muscular dystrophy (DMD) patients and slow the rate of progression of the disease. The purpose of the present investigation was 1) to assess, before any therapeutic trial, the natural growth hormone (GH) rhythm during physiological sleep in DMD patients and in normal control boys of comparable age; 2) to evaluate the effect of different doses of two potential GH inhibitors on nocturnal GH secretion in DMD patients receiving mazindol (1–4 mg), cyproheptadine (4–8 mg), or both drugs.The results from the present investigation showed 1) wide variability in nocturnal GH secretion before medication; 2) no correlation between nocturnal GH concentration and height, age, bone age, L‐dopa provocative test, or Tanner staging; and 3) no consistent effect on GH release after mazindol, cyproheptadine therapy, or combined therapy.
A case of cardio‐facio‐cutaneous syndrome
Authors: Mucklow E. S. 
Published: June 2005

AbstractA 6‐yr‐old girl is described who presented with failure to thrive at age 3 months and was found to have mental retardation, growth retardation, disproportionately large head, distinctive face, abnormal hair, eczema, heart defect, splenomegaly, and multiple hemangiomata. She is thought to have the cardio‐facio‐cutaneous syndrome and to be the first such case identified in Britain.
Dandy‐Walker malformation with postaxial polydactyly: A new syndrome?
Authors: Pierquin G. , Deroover J. , Levi S. , Masson T. , Hayez‐Delatte F. , Van Regemorter N. 
Published: June 2005

AbstractWe report on two sibs with Dandy‐Walker malformation and tetramelic postaxial polydactyly. We conclude that this is a new autosomal recessive syndrome.
Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3)
Authors: Ishikiriyama Satoshi , Tonoki Hidefumi , Shibuya Yoshitaka , Chin Shinki , Harada Naoki , Abe Kyohko , Niikawa Norio 
Published: June 2005

AbstractWe report on a child with Waardenburg syndrome type I and a paracentric inversion of chromosome 2. This 20‐month‐old boy has dystopia canthorum, sensorineural deafness, heterochromia iridis, partially albinotic ocular fundi, and partial leukodermia. He does not have mental retardation or any skeletal abnormalities. Family history was unremarkable. Cytogenetic studies demonstrated that the patient has a paracentric inversion (2)(q35q37.3); his parents have normal chromosomes. These findings suggest that the locus of the gene for Waardenburg syndrome type I may be at 2q35 or 2q37.3.
Autosomal recessive form of whistling face syndrome in sibs
Authors: Dallapiccola Bruno , Giannotti Aldo , Lembo Antonio , Sagui Luigi 
Published: June 2005

AbstractTwo sibs with the whistling face syndrome, born to unaffected parents, are presented. They had the full facial and limb manifestations typical of this disorder, for which there is evidence of autosomal dominant inheritance. The existence of an autosomal recessive form of this syndrome has been suspected previously on the basis of a limited number of observations.Our study substantiates genetic heterogeneity of this condition and suggests that the autosomal recessive form could be even less rare than is generally considered.
Heterogeneity of X‐linked recessive (Spino)cerebellar ataxia with or without spastic diplegia
Authors: Apak Selçuk , Yüksel Memnune , Özmen Meral , Saka Nurçin , Darendeliler Feyza , Neuhäuser Gerhard 
Published: June 2005

AbstractAtaxia with spastic diplegia was seen in seven males of a Turkish family, obviously transmitted as an X‐linked recessive trait. The first clinical sign in infancy was nystagmus; ataxia and pyramidal signs were noted at age 2–3 years. Patients were never able to walk. Dysarthria, orthopedic impairment, and mild mental retardation appeared later as the disorder progressed. Death occurred in the 3rd or 4th decade from infectious diseases. The syndrome resembles X‐linked spinocerebellar ataxia and X‐linked spastic paraplegia in some aspects but is different if compared with previously published reports. Laboratory and neurophysiological studies showed no abnormalities. Various aspects of X‐linked ataxia are discussed: genetic heterogeneity is apparent from observations reported.
Duplication of 16q and deletion of 15q
Authors: Nyhan William L. , Mascarello James , Barshop Bruce , Doroski Diane , Hirschhorn Kurt 
Published: June 2005

AbstractA patient with distal arthrogryposis, congenital dislocations of the hips, a prominent forehead, epicanthal folds, thin lips, and a poorly defined philtrum was found to have a deletion of 15q and a duplication of 16q. Her mother, maternal grandmother, and great grandmother had a balanced t(15q−, 16q+). The gene for adenine phosphoribosyl transferase was assignable to the 16q22 → 16qter area that was duplicated.
Antenatal diagnosis of 45,X/48,XYYY
Authors: Bryke Christine R. , Mahoney Maurice J. , Yang‐Feng Teresa L. 
Published: June 2005

AbstractA diagnosis of 45,X/48,XYYY was made antenatally. Counseling this case was hampered by the paucity of literature describing the phenotype of patients with this chromosome constitution. The fetus had ambiguous external genitalia, a horseshoe kidney, a cerebral cortical cyst and arachnodactyly.
Genetic diagnosis of the preimplantation embryo
Authors: Buster John E. , Carson Sandra A. 
Published: June 2005

AbstractGenetic diagnosis and therapy is well established in the antenatal period. The advancement of uterine and in vitro fertilization allow access to the early blastocyst. Simultaneously, laboratory techniques are being miniaturized to be sufficiently sensitive and specific for diagnosis with only a few cells. Thus genetic diagnosis and therapy may be extended from the antenatal patient to the antegravid patient. This article discusses the techniques of uterine lavage and in vitro fertilization as well as the diagnostic possibilities that this early embryonic period offers.
“Vascular Neurofibromatosis” and infantile Gangrene
Authors: Kousseff Boris G. , Gilbert‐Barness Enid F. 
Published: June 2005

AbstractAn 11‐year‐old boy with slowly progressive gangrene caused by vasculopathy similar to that of neurofibromatosis (NF) type 1 (NF I; von Recklinghausen disease [NFvR]) and a newborn girl with idiopathic gangrene with vascular changes resembling those of NFvR prompted the analysis of all 105 propositi with NF (NF I and NF II) evaluated between January 2, 1982, and December 31, 1986, at the genetics clinic of University of South Florida. They were analyzed for renal hypertension, symptomatic ischemia, and known vascular changes. One additional 27‐month‐old boy with NFvR was found to have extensive vascular changes with renal hypertension. The vasculopathy indicated asymmetric over/ undergrowth of cellular and extracellular components of the vascular wall and implied dysregulation of the paracrine growth mechanism. Immunocytochemical studies of affected vessels were done only in the 11‐year‐old boy and showed positive neuron‐specific enolase, S‐100 protein, and glial fibrillary acidic protein (GFAP) reactions indicative of Schwann cell involvement.The vascular changes in children with NFvR are mostly asymptomatic; however hypertension secondary to renal artery stenosis and/or Moya‐moya disease have been reported infrequently. Our patients with vasculopathies provoked thoughts in regard to the so‐called vascular NF, its place in current NF nomenclature and classification, relationship to fibromuscular dysplasia (FMD), and possible role in infantile gangrene.
Recessive inheritance of a high number of sodium pump sites
Authors: Hasstedt Sandra J. , Wu Lily L. , Kuida Hiroshi , Williams Roger R. 
Published: June 2005

AbstractThe number of sodium pump sites on erythrocytes was measured on 1,847 individuals in 80 Utah kindreds ascertained through probands with cardiovascular disease. Likelihood analysis supported recessive inheritance of high pump number. The major locus explained 14.0% of the variance in pump number; polygenic inheritance explained another 63.4%. Homozygotes for the recessive allele occurred with a frequency of 1.74% and had a mean pump number estimated as 566.0 sites/red blood cell (RBC) versus a mean of 312.2 sites/RBC for the other genotypes. Young individuals with the high pump number genotype were leaner, and older adults with the high pump number genotype were heavier. Diabetes and early hypertension were more prevalent in women with the high pump number genotype. Although not significant, obesity in adults of both sexes and early coronary heart disease in men were more prevalent in individuals with the high pump number genotype.
Occurrence of male phenotype in genotypic females with congenital virilizing adrenal hyperplasia
Authors: Chan‐Cua Sioksoan , Freidenberg Gary , Jones Kenneth Lee 
Published: June 2005

AbstractWe report on two genotypic females with complete masculinization of the external genitalia secondary to congenital adrenal hyperplasia resulting from 21‐hydroxylase deficiency. One patient had the salt‐losing variant, and the other had the simple virilizing or nonsalt‐losing variant. One was evaluated neonatally during an adrenal crisis and misidentified as male; the second was unrecognized. Both were being reared as males when the true genotype was recognized during evaluation for cryptorchidism. The female internal genitalia were subsequently removed and testicular implants placed. These cases demonstrate the need to exclude congenital virilizing adrenal hyperplasia in any phenotypic male infant with bilateral cryptorchidism. When this condition is diagnosed, early and genotypically appropriate sex assignment is important if reproductive function is to be preserved and subsequent emotional and social complications avoided.
Craniofrontonasal dysostosis with deafness and axillary pterygia
Authors: Michels Virginia V. , Derleth Douglas P. , Hoffman Alan D. , Goldston Anne S. 
Published: June 2005

AbstractCraniofrontonasal dysostosis (CFND) is an inherited disorder previously referred to as craniofrontonasal dysplasia. However, there is no evidence of tissue dysplasia and, therefore, the term dysostosis has been substituted. The disorder is characterized by frontonasal dysostosis, coronal craniostenosis, and the variable presence of other skeletal defects, including short webbed neck, sloping shoulders, polydactyly, syndactyly, and broad first toes. Here we report an affected mother and daughter who also have limited hip abduction. In addition, the mother had an axillary pterygia, congenital footplate fixation of the left ear, and right sensorineural hearing loss; these manifestations have not been reported previously in CFND and expand the phenotype of this syndrome. Both patients had marked restriction of shoulder abduction, and the mother had limited forearm pronation; these manifestations have been reported in only one other patient with CFND. Awareness of the possibility of these abnormalities may allow for early intervention by physical therapy and hearing aides in infants and young children with these manifestations as a component of CFND.