bluuebunny/crossref_metadata_2025_split huggingface dataset:
Osteodysplastic primordial dwarfism: Report of a further patient with manifestations similar to those seen in patients with types I and III
Authors: Winter R. M. , Wigglesworth J. , Harding B. N. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a female infant with low birthweight osteodysplastic microcephalic dwarfism. The child has many manifestations in common with those seen in osteodysplastic primordial dwarfism types I and III. The classification of this heterogeneous group of disorders is discussed in the light of the above case.
Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome?
Authors: Richieri‐Costa A. , Colletto G. M. D. D. , Otto P. A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a 10‐year‐old boy with short stature, mild microcephaly, malar hypoplasia, highly arched palate, prominent upper incisors, micrognathia, and unusual digital anomalies involving the proximal phalanges of fingers 2–5 of both hands. To our knowledge, this is a hitherto undescribed syndrome.
Linear skin atrophy, scarring alopecia, anonychia, and tongue lesion: A “new” syndrome?
Authors: Sequeiros Jorge , Sack George H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractOne of a pair of female monozygotic twins showed skin atrophy with linear alternation of depressed scarlike areas and intervening ridges of normal or nearly normal skin. She was born with friable skin and a vesicular‐bullous eruption which was followed by gradual scabbing. Hypohidrosis in the affected areas, heat intolerance, and febrile convulsions were noted in infancy and childhood. No new skin lesions developed, and the existing ones, the sweating disturbance, and the heat intolerance gradually improved with time. Scarring alopecia, congenital absence of three toenails, and a scarlike lesion of the tongue were also present. Their absence in the other twin supports the view that 1) these manifestations all are part of the same syndrome, and 2) this syndrome is nongenetic.Histologically, there were no diagnostic or consistent findings, but the number of skin appendages was diminished, and the elastic fibers were reduced in number and size in one biopsy. The calculated probability for the twins being monozygotic was 0.9998.This family was also remarkable for the presence of alopecia areata in three successive generations with only one instance of apparent nonpenetrance.We conclude that this may represent a previously undescribed syndrome of congenital fragility of connective tissue which predisposed to damage of the elastica, possibly caused by an early inflammatory phase.
Multiplicity of genetic polymorphisms of blood in the Schmiedeleut Hutterites
Authors: Lewis Marion , Kaita Hiroko , Giblett Eloise R. , Anderson Jeanne , Philipps Sylvia , Steinberg Arthur G. , McAlpine Phyllis J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractNinety‐eight alleles in 38 polymorphisms of blood are identified in the Schmiedeleut Hutterites. The study was initiated because of the presence of Wda, an allele found almost exclusively in Hutterites. Eight of the other alleles also have an exceedingly low incidence in a random white population: r″ (.006), R2w (<.001), LWb (<.01), ESD*rare (<.001), GPT*0 (.004), NP*4 (<.001), GOT2*3 (.001), and C6*0 (.002). The occurrence of this many rare alleles in a population with an estimated maximum of 124 ancestral genomes was surprising but consistent with observations in other isolates. The degree of heterozygosity and large family size make the population ideal for genetic linkage studies.
Juvenile cataract in Hutterites
Authors: Shokeir M. H. K. , Lowry R. B. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIsolated juvenile or congenital cataract is a rare disorder. It occurs commonly as part of a more generalized or systemic condition or as a component of a syndrome. When encountered per se it may be genetically determined. The inheritance then often is autosomal dominant; autosomal recessive transmission of isolated juvenile cataract is rare. Here we present, four sibships from an extensive kindred including nine individuals affected with juvenile (or congenital) cataracts. The kindred belongs to the Lehrerleut Hutterite group from the provinces of Saskatchewan and Alberta in Canada and the state of Montana in the United States. Apart from the cataracts, all the patients were healthy and of normal growth and development. Specifically, no metabolic disorder could be identified. Intellect, hearing and behavior were all normal and the patients were neurologically intact. Furthermore, there were no other ocular lesions aside from the cataracts. In this kindred cataracts appear to be a recessive trait.
Congenital anomalies in the Hutterite population: A preliminary survey and hypothesis
Authors: Lowry R. B. , Morgan K. , Holmes T. M. , Gilroy S. W. M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe Alberta Provincial Congenital Anomaly (CA) Surveillance reporting forms were scanned for infants whose surnames and addresses identified them as belonging to the Hutterite Brethren. Death registrations (of infants up to 1 year) and stillbirth registrations were similarly scanned. While the overall percentage of total malformations (5%) and major malformations (2%) was no different from that of the total population of Alberta, closer examination of the actual entities showed a large number of monogenic disorders among the Hutterites. The frequency of multifactorial congenital anomalies was approximately 1 %. The inbreeding coefficients, using a genealogic data base, were computed for each “case baby” and two Hutterite “control babies,” the latter being births preceding and succeeding the case baby. There was no statistical difference in the distribution of inbreeding coefficients between the case and control groups. While the data are based on small numbers and therefore are preliminary, they suggest that the Hutterite lifestyle, of good nutrition (using largely home prepared foods), absence of tobacco and minimal alcohol consumption, may be one factor responsible for fewer multifactorial CAs whose occurrence is environmentally susceptible to such influences. Studies of populations with a low incidence of disorders are just as important as those with a high incidence.
Primary hypogonadism and partial alopecia in three sibs with Müllerian hypoplasia in the affected females
Authors: Al‐Awadi S. A. , Farag T. I. , Teebi A. S. , Naguib K. , El‐Khalifa M. Y. , Kelani Y. , Al‐Ansari A. , Schimke R. N. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe 3 sibs, two females and a male, with hypogonadism, defective Müllerian development in the sisters, and partial alopecia consisting of cranial hair only in the center of the scalp. One sister had absent gonads, the other had streak ovaries; both had markedly hypoplastic internal genitalia. Their brother had hormonal and histologic findings consistent with germinal cell aplasia. In view of the fact that the parents were consanguineous, autosomal recessive inheritance of the syndrome is likely.
Autopsy findings in a stillborn female infant with the Osebold‐Remondini syndrome
Authors: Opitz John M. , Gilbert Enid F. , Reynolds James F. 
Published: June 2005

AbstractThe Osebold‐Remondini syndrome is a bone dysplasia with mesomelic shortness of limbs and, hence, shortness of stature, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, carpal and tarsal coalitions, and apparently no other anomalies. This is an autosomal dominant condition. In the family described by Osebold et al [1985], a female infant with the Osebold‐Remondini syndrome was still‐born. Cause of fetal death could not be determined, and, at the moment, cannot be assumed to be a pleiotropic manifestation of this gene. The skeletal abnormalities in the infant are described and illustrated. Histologic structure of bone (proximal femur, vertebral bodies, iliac crest, and costal junctions) was studied by light and electronmicroscopy. Several histologic and ultrastructural abnormalities found suggest that the Osebold‐Remondini syndrome may involve more generalized anomalies of bone development than the clinical picture might suggest.
Aortic root dilatation and mitral valve prolapse in the fragile X syndrome
Authors: Loehr James P. , Synhorst David P. , Wolfe Robert R. , Hagerman Randi J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractForty patients with fragile X [fra(X)] or Martin‐Bell syndrome, confirmed by chromosome analysis, underwent full cardiac evaluation including physical examination, chest film, electrocardiography (ECG), and M‐mode and 2‐dimensional echocardiography. Thirty‐four males and six females were studied. Although all patients were asymptomatic, seven males were found to have mild aortic root dilatation. All seven also had evidence of mitral valve prolapse. Twenty‐two (55%) of the study patients had mitral valve prolapse with either a click or murmur heard on physical examination and confirmation by	M‐mode echocadiogaphy.The	frequency of mitral valve prolapse was the same	in males and females, but 80% of males older than 18 years had mitral valve prolapse. These findings support the hypothesis of a connective tissue dysplasia in the fra(X) syndrome.
Variability of thymidylate synthase activity in whole blood cultures treated with FUdR
Authors: Sklower Susan L. , Jenkins Edmund C. , Anderson Melba L. , Chan Colin B. , Brown W. Ted , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractInduction of some fragile sites including fragile X [fra(X)] depends on the depletion of thymidine monophosphate (TMP) from the culture medium. This can be accomplished by use of inhibitors such as 5‐fluorodeoxyuridine (FUdR) and by culturing cells in medium deficient in folate and TMP. FUdR inhibits the activity of thymidylate synthase (TS), thereby depleting cells of TMP. To determine the degree of FUdR inhibition of TS under routine cytogenetic culture conditions, we modified the tritiated dUMP TS method for use in short‐term whole blood cultures stimulated with phytohemagglutinin. TS inhibition was highly variable across whole blood cultures from 30 individuals exposed to FUdR during the last 24 hours of a 4 day culture. If an additional dose of FUdR was added 12 hours be fore harvest, TS inhibition usually increased. These findings have a potential impact on the use of FUdR for the diagnosis of the fra(X) syndrome.
Differential expression of fragile site Xq27 in cultured fibroblasts from hemizygotes and heterozygotes and its implications for prenatal diagnosis
Authors: Schmidt Angela , Passarge E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractExpression of the fragile site Xq27 (fraXq27) was studied in metaphases derived from fibroblasts of 8 hemizygotes and 2 heterozygotes, cultured in 2 different media containing reduced concentrations of folic acid. The proportion of fra(X)(q27)‐positive metaphases ranged from 1.0 to 14%, which is considerably lower than in lymphocyte cultures from the same individual, but differed with respect to the culture medium used. Four hemizygotes showed a higher proportion of fra(X)‐positive cells in medium 199 than in methotrexate‐exposed cultures. No fra(X)‐negative cultures were observed when the folic acid inhibitor methotrexate was added to medium 199 . Thus, in all 10 individuals carrying the fra(X), the fragile site could be detected in fibroblast cultures. We conclude that the expression of fra(X)(q27) in cultured fibroblasts should be studied using at least 2 types of culture conditions, because familial, i.e. genetic differences may influence the expression of this fragile site in fibroblasts. The implications for prenatal diagnosis are discussed on the basis of investigations in 15 pregnancies at risk for the trait.
A possible fragile‐site at Yq12: Case report and possible relevance to de novo structural rearrangements of the Y‐chromosome
Authors: Holden Jeanette J. A. , Ridgway Patricia , Smith Anne , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIn a routine chromosome study it was noted that cells from a patient had different lengths of Y‐chromosome: 20% of the cells had a Y‐chromosome with about 40% of the normal length of heterochromatin, whereas the majority of cells had an average sizeYq12 region. A break within Yq12 was found in 3–4% of the cells with the long Yq12 chromosome, indicating the presence of a possible new fragile site. The frequency of cells with the 2 different sizes of Y‐chromosomes was unaffected by culture conditions as was the frequency of cells with a break or gap. Possible consequences of a fragile‐site within Yq12 are discussed.
Normal male carriers in the fra(X) form of X‐linked mental retardation (Martin—Bell syndrome)
Authors: Froster‐Iskenius U. , McGillivray B. C. , Dill F. J. , Hall J. G. , Herbst D. S. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractEvidence for the transmission of X‐linked mental retardation through normal male carriers is reviewed in 6 kindreds. In these pedigrees we identified 15 unaffected males who likely had passed the gene on through their daughters. Fifty‐one mentally retarded grandsons or great grandsons descended from these males had 50 daughters with only 2 of them being of low intelligence. Two of the male carriers were recently identified through fra(X)‐ positive results in their mentally normal daughters. Among the sibs of these males, mentally retarded brothers were found in 3 families. This was unexpected since earlier observations suggested that the risk for mental retardation among sibs of non‐manifesting carriers is exceedingly low.
DNA linkage studies in the fragile X syndrome suggest genetic heterogeneity
Authors: Brown W. Ted , Gross Anne C. , Chan Colin B. , Jenkins Edmund C. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractPrevisouly we showed genetic heterogeneity for linkage between the fra(X) locus and a factor IX DNA RFLP (Brown et al, 1985). When fra(X) families were predivided into two classes, one containing those with non‐penetrant (NP) males and one with apparent full penetrance (P), evidence of significant heterogeneity was present. We have now extended this analysis by adding DNA linkage information on 2 additional probes, 52A and ST14, studied in 16 fra(X) kindreds. These data were combined with information on 16 published fra(X) families. There were 7 NP families and 25 P families. We confirmed our previous findings of a higher recombination fraction between factor IX and fra(X) in P families (0 = .32 with lod of .67) compared to as NP familes (0 = .06 with lod of 6.11) which was singnificant at p < .01. In comparing recombination fractions for the additional probes, more recombination between 52A and the other loci was consistently seen in P compared to NP familes which suggested that there may be a higher rate of recombination proximal to the fra(X) locus in P kindreds. A strikingly higher recombination fraction between 52A and factor IX was present in comparing all fra(X) families (.18) to normal families (.02) which was significant at p < .001. These results suggest genetic heterogeneity with respect to recombination is present both among fra(X) pedigrees and between fra(X) and normal pedigrees.
Cytogenetic studies in Wiskott‐Aldrich syndrome: Identification of a case with a 6p chromosome abnormality
Authors: Johnson M. P. , Filipovich A. H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractLymphocytes from patients with Wiskott‐Aldrich syndrome (WAS) were studied (1) with prometaphase G banding to search for minor chromosome anomalies and (2) in mutagen stress assays to assess the extent of chromosome breakage under these conditions. One patient, a sporadic case of WAS, was found to have a stable inversion of a large segment of one chromosome 6 that involved the region encoding the major histocompatibility complex (MHC). The anomaly was not present in the patient's parents, nor in three other unrelated patients with WAS, all of whom demonstrated X‐linked inheritance (based on family history). None of the four patients showed an excessive number of breaks or radial exchange figures following exposure to mitomycin C or diepoxybutane. Thus chromosome fragility in WAS was not confirmed by these studies. However, the incidental finding of 6p inversion in a sporadic case of WAS suggests that genetic rearrangement involving the MHC can result in clinical immunodeficiency mimicking WAS.
Lethal osteopetrosis with multiple fractures in utero
Authors: Khazen Nabih El , Faverly Daniel , Vamos Esther , Van Regemorter Nicole , Flament‐Durand Jacqueline , Carton Brigitte , Cremer‐Perlmutter Noémi , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractSevere osteopetrosis was diagnosed in utero in two successive pregnancies resulting from an intermarriage. Hydrocephaly and skeletal hyperdensity were detected at 18 weeks of gestation, and fractures at 24 weeks. We report on extensive ultrasound, radiological, and pathological findings, including those on brain and bone. The markedly reduced number of osteoclasts observed in these sibs and the very early fetal involvement suggest that this form of osteopetrosis might represent a new entity: autosomal recessive lethal osteopetrosis.
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity
Authors: Sillence D. O. , Barlow K. K. , Cole W. G. , Dietrich S. , Garber A. P. , Rimoin D. L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe existence of a rare form of osteogenesis imperfecta, OI type III, has been postulated. This is characertized by autosomal recessive inheritance with neonatal manifestations of bone fragility or deformability. It is usually nonlethal. Studies of some 345 pedigrees of OI in the last 8 years confirm that patients falling into this group are rare. They should be distinguished as a special group within the group of O1 subjects with a progressively deforming O1 phenotype delineated in previous publications [Sillence et al, 1979a, b]. The OI type III phenotype does not necessarily equate with progressively deforming OI, and probably only a proportion of cases with severe deformity and normal scleraehave OI type III. On the other hand, distinction between these patients and those with a milder form of perinatally lethal OI type II might be difficult. Whereas the natural history of skeletal deformity and fractures in patients with OI type III has certain similarities, variable severity between families indicates that OI type III is likely to be genetically heterogeneous.
Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel‐Feil, and Möbius anomalies
Authors: Bavinck Jan N. Bouwes , Weaver David D. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA hypothesis is presented to explain the pathogenesis of the Poland, Klippel‐Feil, and Möbius anomalies, isolated absence of the pectoralis major with breast hypoplasia, isolated terminal transverse limb defects, and the Sprengel anomaly. We propose that these conditions are the result of an interruption of the early embryonic blood supply in the subclavian arteries, the vertebral arteries and/or their branches, and hypothesize that the occlusions occur at specific locations in these vessels during or around the sixth week of embryologic development and produce predictable patterns of defects. The termsubclavian artery supply disruption sequence(SASDS) is suggested for the group of birth defects represented by the above conditions. Possible causes for interruption of embryonic blood supply are discussed.
A comparison of the availability and content of genetic counseling as perceived by hemophilic men and carriers in the U.S.A., Canada, Scotland, and Greece
Authors: Markova Ivana , Forbes Charles D. , Aledort Louis M. , Inwood Martin , Mandalaki Titika , Miller Connie H. , Pittadaki Jane , Reynolds James F. 
Published: June 2005

AbstractA survey study was carried out with 211 hemophilic men and 205 carriers of hemophilia at four hemophilia centers in New York; London, Ontario; the West of Scotland; and Athens, Greece. The participants responded to a questionnaire exploring socio‐demographic and medical information, attitudes toward hemophilia, and experience of and attitudes toward genetic counseling. The study shows differences between attitudes of hemophilic men and carriers, differences in perceived problems among patients and carriers in the four centers, and differences in opinions between consumers and professionals. Comprehensive services for hemophilic families available in the New York center facilitate both patient education and satisfaction.
Concurrence of von Willebrand's disease and hemophilia A: Implications for carrier detection and prevalence
Authors: Miller Connie H. , Hilgartner Margaret W. , Harris Michael B. , Bussel James B. , Aledort Louis M. , Reynolds James F. 
Published: June 2005

AbstractFive families with concurrent von Willebrand's disease (VWD) and classic hemophilia (hemophilia A) are described. Three were ascertained through women undergoing hemophilia carrier testing, one through an obligate carrier who also has VWD, and one through the affected father of a hemophiliac. The VWD probands exhibited Type I VWD with reduced Factor VIII‐related antigen (VIIIR: Ag) and/or von Willebrand factor on more than one occasion, normal VIIIR: Ag on crossed immunoelectrophoresis, and mild symptoms. No male had both disorders, but two obligate hemophilia carriers alos had VWD. Neither was detectable as a carrier by discriminant analysis. Four possible carriers of hemophilia had VWD and would also be classified as noncarriers statistically. These findings suggest that the presence of VWD may invalidate hemophilia carrier testing by conventional methods. The independent entry into the family of the two genes by mating of a hemophilia carrier and a VWD male is documented in two cases and probable in two. The observed frequency of such matings supports the hypothesis that VWD is a common disorder.
Persistent hyperplastic primary vitreous and recessive oculo‐dento‐osseous dysplasia
Authors: Traboulsi Elias I. , Faris Bishara M. , Kaloustian Vazken M. Der , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a patient with oculo‐dento‐osseous dysplasia and bilateral persistence of the hyaloid system. Autosomal recessive inheritance may be the cause of this patient's condition since she was born to unaffected first‐cousin parents. Ocular findings in the recessive variety of this syndrome seem to be more severe than those in the more common dominant form.
Investigation on genetic heterogeneity in Duchenne muscular dystrophy
Authors: Rabbi‐bortolini Eliete , Zatz Mayana , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe preliminary results of a study to investigate possible genetic heterogeneity in Duchenne muscular dystrophy (DMD) are reported. Ninety‐eight patients have been analyzed: 47 were isolated cases; 51 were familial cases. The patients were divided into three groups (normal intelligence, borderline, and mentally retarded) according to mental capacity and a comparison of clinical evolution (onset of clinical signs and loss of ambulation) as well as serum enzyme activities (creatinekinase and pyruvate‐kinase). In addition intrafamilial correlation analysis was done for the same parameters.The preliminary results did not show a significant difference between DMD patients with normal intelligence and those with mental retardation.