bluuebunny/crossref_metadata_2025_split huggingface dataset:
Renal and skin involvement in a patient with complete Kearns‐Sayre syndrome
Authors: Mori Kazuhiro , Narahara Kouji , Ninomiya Shinsuke , Goto Yu‐ichi , Nonaka Ikuya 
Published: June 2005

AbstractWe report on a 13‐year‐old girl with complete Kearns‐Sayre syndrome (KSS) and unusual manifestations of anhidrosis and de Toni‐Fan‐coni‐Debré syndrome which preceded by several years the onset of KSS triad. Histochemical examination of skeletal muscle showed focal deficiency of cytochrome c oxidase (CCO). Southern blot analysis of mito‐chondrial DNA (mtDNA) demonstrated a deletion of 5.4 kb in 60% of the total mtDNAs isolated from the muscle and kidney. On electron microscopy, epithelial cells of the proximal and distal renal tubules and the sweat glands showed an increased number of giant mitochondria with complicated and concentric cristae. This appears to be the first report of complete KSS associated with renal and skin involvement. Data obtained in this patient provide important information on the clinical heterogeneity and tissue specificity of CCO deficiency.
Generalized enchondromatosis in a boy with only platyspondyly in the father
Authors: Halal Fahed , Azouz E. Michel 
Published: June 2005

AbstractWe report on a boy with platyspondyly and metaphyseal manifestations of enchondromatosis with severe involvement of hands and feet, compatible with generalized enchondromatosis (enchondromatosis Spranger type VI). His father has only moderate platyspondyly. The latter is either coincidental or a milder, more localized expression of the disease. Father and son have consanguineous parents suggesting autosomal recessive inheritance of the trait. However, autosomal dominant inheritance with variable expressivity is also possible.
DNA polymorphisms and deletion analysis of the Duchenne–Becker muscular dystrophy gene in the chinese
Authors: Soong Bing‐Wen , Tsai Ting‐Fen , Su Chume‐Hwae , Kao Ko‐Pei , Hsiao Kwang‐Jen , Su Tsung‐Sheng 
Published: June 2005

AbstractIn our investigation of Duchenne muscular dystrophy (DMD)–Becker muscular dystrophy (BMD)gene in the Chinese, the analysis of relevant restriction fragment length polymorphisms (RFLPs) was first made in 30 normal female volunteers to determine their allele and genotype frequencies, and then in 29 DMD–BMD families for informativeness of different combinations of RFLPs in making carrier detection and prenatal diagnosis. We further screened the mutant gene, first with four 5' end intronic, genomic probes (pERT87‐1, pERT87‐8, pERT87‐15, and XJ1.1) which did not show any deletions, and then with all dystrophin cDNA probes which disclosed 13 partial gene deletions out of 29 patients studied (45%). The deletions were non‐randomly distributed, clustering primarily near the central region of the gene. Fifty percent of the deletions involved single exon‐containing HindIII restriction fragments, and again most were located near the center of the gene, emphasizing the importance of this area. Some exceptions were found against the previous suggestion that intactness of translational open reading frame resulted in a BMD phenotype. Neither the location of the break‐points nor the length of the deletions was useful in predicting a certain phenotype. One of our patients had an intriguing pattern of partial gene deletion that lost part of the gene at the 3' end. Carrier determination was attempted by use of dosage analyses or identification of junction fragments which greatly improved accuracy and reliability.
Tetrasomy of the short arm of chromosome 9: Prenatal diagnosis and further delineation of the phenotype
Authors: Schaefer G. Bradley , Domek David B. , Morgan Mark A. , Muneer Razia S. , Johnson Sarah F. 
Published: June 2005

AbstractA fetus with multiple malformations was identified by prenatal ultrasound investigation. Cordocentesis and fetal lymphocyte chromosome analysis demonstrated a modal number of 47 chromosomes. The extra chromosome material was identified as an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long arm [47, XY, + i(9p)]. This represents the first report of prenatal diagnosis of tetrasomy 9p. Further delineation of the phenotype is discussed.
Carrier detection and prenatal diagnosis of Pelizaeus‐Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA
Authors: Bridge Peter J. , MacLeod Patrick M. , Lillicrap David P. 
Published: June 2005

AbstractWe report carrier identification and a prenatal diagnosis using DNA polymorphisms in 2 families with X‐linked Pelizaeus‐Merzbacher disease (PMD). In both families, the proteolipid protein (PLP) gene in the single affected male could be traced back to his unaffected maternal grandfather. Therefore, each family contains a new mutation. In the case of the prenatal diagnosis, the fetus was shown by cytogenetic analysis to be a female, who we predict will be a noncarrier of PMD based on her genotype with the PLP intragenic polymorphism.
Epidemiological aspects of Mendelian syndromes in a spanish population sample: I. Autosomal dominant malformation syndromes
Authors: Martínez‐Frías M. L. , Cereijo A. , Bermejo E. , López M. , Sánchez M. , Gonzalo C. 
Published: June 2005

AbstractUsing a sample of 710, 815 liveborn infants throughout Spain, monitored from April, 1976, to December, 1988, by the Spanish Collaborative Study of Congenital Malformations (ECEMC), we estimated the prevalence of each recognized autosomal dominant malformation syndrome for a total prevalence figure of 12.1 per 100,000 live births, including all detected autosomal dominant malformation syndromes. We estimated that the mutation rate for those syndromes was 48.5 per 1,000,000 gametes. The geographical distribution of these syndromes was homogeneous in the Spanish Regions.
Epidemiological aspects of Mendelian syndromes in a Spanish population sample: II. Autosomal recessive malformation syndromes
Authors: Martínez‐Frías M. L. , Bermejo E. , Cereijo A. , Sánchez M. , López M. , Gonzalo C. 
Published: June 2005

AbstractFrom April, 1976, to December, 1988, the Spanish Collaborative Study of Congenival Malformations (ECEMC) monitored a total population of 710, 815 liveborn infants in 16 of 17 Spanish Regions and identified 14, 439 (2.0%) with congenital defects. Among the malformed children, we identified 73 with well recognized autosomal recessive syndromes, for an overall prevalence rate of 10.3 per 100, 000 livebirths and a total carrier frequency of 1/49. Considering the Spanish Regions (Comunidades Autónomas), we analyzed the geographical distributions of these syndromes that were homogeneous. We studied the place of birth of the grandparents to determine the distribution of the gene as well as the gene flow.
Metaphyseal anadysplasia: A metaphyseal dysplasia of early onset with radiological regression and benign course
Authors: Maroteaux Pierre , Verloes Alain , Stanescu Victor , Stanescu Ritta 
Published: June 2005

AbstractWe report on 4 boys (including 2 maternally related first cousins) with a metaphyseal dysplasia of early onset and regressive evolution. Diagnosis is possible in the first months. Distal metaphyses of long bones are very irregular. Femoral necks seem hypoplastic and the edges of the metaphyses are almost vertical; femoral shaft is bowed. Those anomalies disappear after 2 years. The main manifestations are slight shortness and a light varus deformity of the lower limbs. Stature is not affected. The upper tibial growth cartilage, studied in one case, showed wide proliferative and hypertrophic zones with an unusual appearance of the last hypertrophic cells and an abnormal zone of cartilage calcification and resorption. The name “metaphyseal anadysplasia” is suggested for this early and regressive disorder. We are aware of other forms of regressive metaphyseal dysplasia which deserve further delineation. Therefore infants whose radiological changes of metaphyseal dysplasia do not fall into one of the well‐defined types should be followed and prediction of the adult height should not be made on the basis of the findings on the initial examination.
Holoprosencephaly in a newborn girl with 46,XX,i(18q)
Authors: Spinner Nancy B. , Eunpu Deborah L. , Austria Jocelyn R. , Mamunes Peter 
Published: June 2005

AbstractWe report on a newborn girl with holoprosencephaly, microcephaly, absent right radius, and other anomalies with an 46, XX,i(18q) chromosome constitution. This is the first report of an i(18q) in syndromal alobar holoprosencephaly.
Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: New entity or variant of Walker‐Warburg syndrome?
Authors: Wargowski David S. , Chitayat David , Tyson R. Wes , Norman Margaret G. , Friedman J. M. 
Published: June 2005

AbstractA term newborn male with severe hypotonia and contractures was found to have dense bilateral cataracts. He died at age 3 days of respiratory failure. Amino acidopathies and disorders of peroxisome function were excluded, and results of serologic studies and placental histopathology, specifically seeking evidence of intrauterine infection, were normal. Autopsy showed changes in the skeletal muscles consistent with congenital muscular dystrophy and a small focal anomaly of the cerebral cortex. These findings either represent a new syndrome or raise further questions about broadening the spectrum of known congenital muscular dystrophy syndromes with associated eye and brain anomalies.
Sirenomelia and anencephaly
Authors: Rodríguez José Ignacio , Palacios José , Razquin Socorro 
Published: June 2005

AbstractWe report on a monozygotic twin with sirenomelia and anencephaly. This association seems to have been observed only twice before. In addition to these anomalies the patient had cleft palate, rachischisis, and segmentation vertebral anomalies affecting the cervical and the upper thoracic spine. The second twin was a liveborn female infant with a large cystic paraovarian teratoma, and duplication of internal genitalia.
Bartsocas‐Papas syndrome: Three familial cases from Spain
Authors: Martínez‐Frías M. L. , Frías J. L. , Vazquez I. , Fernández J. 
Published: June 2005

AbstractWe report on 3 Spanish sibs with the Bartsocas‐Papas syndrome. This appears to be the seventh reported family; all but one of them are of Mediterranean origin. We propose that a generalized vascular disruption is the most likely pathogenetic mechanism for the anomalies found in this syndrome.
Prenatal diagnosis of 48,XYY, + 21 ascertained through ultrasound anomalies
Authors: Gollop Thomaz Rafael , Naccache Nadyr F. , Auler‐Bittencourt Eloisa , Hauschild Decio , Eigier Alberto , Zveibil Deborah K. 
Published: June 2005

AbstractDuring a routine ultrasound study on a fetus at 21 weeks, nuchal edema was noted. At 21 weeks, repeat ultrasound study at our unit showed scalp and neck edema and a femur length/biparietal diameter ratio below the mean. Transabdominal chorionic villus sampling identified a 48.XYY, + 21 chromosome constitution. The fetus had normal internal/external genitalia and signs of Down syndrome.
Teebi hypertelorism syndrome (brachycephalofrontonasal dysplasia) in a U.S. Family
Authors: Stratton Robert F. 
Published: June 2005

AbstractTeebi (Am J Med Genet 28:581–591, 1987) described a pattern of anomalies in an Arab kindred involving 16 individuals in 4 generations. Although some findings were similar to those in craniofrontonasal dysplasia, absence of craniosynostosis, normal to slightly broad nasal tip, normal nails, and male to male transmission distinguished this as a separate entity. This paper describes a U.S. family with similar findings, involving 6 individuals (2 male and 4 female) in 4 generations, with male to male transmission.
Mother and son with deletion of 3p25‐pter
Authors: Tazelaar J. , Roberson J. , Van Dyke D. L. , Babu V. R. , Weiss L. 
Published: June 2005

AbstractWe report on a mother and son with a 3p25‐pter deletion. Both have postnatal growth retardation, mental retardation, apparently low‐set or malformed ears, and telecanthus. The mother also has ptosis and multiple joint pains, while the son has a long philtrum and anteverted nares. These phenotypes are compared to those of other 3p‐ patients. Both patients have many manifestations previously described. The son appears to be more severely affected than the mother.
Familial dermographism
Authors: Jedele Kerry B. , Michels Virginia V. 
Published: June 2005

AbstractUrticaria in response to various physical stimuli has been reported in sporadic and familial patterns. The most common of these physical urticarias, dermographism, is a localized urticarial response to stroking or scratching of the skin and has not been reported previously to be familial. A four‐generation family with dermographism, probably inherited as an autosomal dominant trait, is presented along with a discussion of sporadic dermographism and other types of familial physical urticarias.
Dandy–Walker malformation in the Meckel syndrome
Authors: Herriot Richard , Hallam Lavinia A. , Gray Elizabeth S. 
Published: June 2005

AbstractThe Meckel syndrome is an autosomal recessive condition and includes a heterogeneous group of CNS malformations, most frequently occipital encephalocele. We report on 2 sibs and one other unrelated case with Meckel syndrome in whom the CNS anomaly was the Dandy–Walker malformation, an association not previously described. The criteria used to diagnose the Meckel syndrome are also reviewed.
Using OMIM (On‐line Mendelian Inheritance in Man) as an expert system in medical genetics
Authors: Schorderet Daniel F. 
Published: June 2005

AbstractExpert systems have been used in Medicine for many years, but they are usually highly sophisticated and not well integrated into day‐to‐day practice. On the other hand, bibliographic databases suoh as Medline and others are easily accessible and are widely used. We report here the use of OMIM (On‐line Mendelian Inheritance in Man), one of these bibliographic databases, as an expert system in Medical Genetics. The description of 93 syndromes was used as search‐key and the diagnoses proposed by OMIM were analyzed to determine whether the correct diagnosis was among them. The proposed diagnoses were automatically ranked by OMIM from the most probable (weight = 100) to the least probable (weight = 1). OMIM suggested a total of 1538 +/− 692.2 diagnoses per search. In order to deal with a reasonable number of proposed diagnoses, we only considered the diagnoses with a weight of 50 or more. With this limit, OMIM proposed a mean of 37.0 +/− 24.6 diagnoses per case. The overall accuracy was 76%. A correct answer with a perfect weight of 100 was proposed in 29% of the cases. The diagnostic accuracy of OMIM increased linearly when weights lower than 100 were considered. When the rank alone was analyzed, the accuracy of OMIM increased very rapidly from position 1 to 5 with a subsequent almost linear increase. If one only considered the first five proposed diagnoses, the accuracy of OMIM was just above 50%.This study shows that bibliographic databases are not only restricted to the provision of references but could also be used as expert systems and are therefore of great value to medical geneticists.
Dandy‐Walker malformation (variant), cystic dysplastic kidneys, and hepatic fibrosis: A distinct entity or Meckel syndrome?
Authors: Walpole Ian R. , Goldblatt Jack , Hockey Athel , Knowles Simon 
Published: June 2005

AbstractDandy‐Walker malformation is an unusual finding in Meckel syndrome, which characteristically presents with encephalocele, polydactyly, and cystic renal disease. We report on a family in which three nonviable brothers had Dandy‐Walker malformations (variant) with associated enlarged cystic dysplastic kidneys and hepatic fibrosis. The consistent segregation of these abnormalities in all three sibs in the absence of polydactyly and encephalocele suggested the possibility of a distinct syndrome. The clinicopathological findings of the disorder are described and discussed in the context of the phenotypic spectrum of Meckel syndrome.
Syndrome: Le Mot de Jour
Authors: Jablonski Stanley 
Published: June 2005

AbstractSyndrome is one of the oldest terms in the medical vocabulary. It has been used as a designation for those disorders that were marked by etiologically nonspecific similar groups of manifestations up to the time of Sydenham. His contention that the terms syndrome and disease were in fact synonymous explains in part infrequent use of syndrome in the literature until the latter part of the 19th century. Redefinition of syndrome early in the 20th century as a disorder characterized by the concurrence of symptoms which are causally related, and further refinement of the definition as a condition marked by a cluster of symptoms occurring together coincidentally, gradually restored the popularity of the term to where syndrome is now one of the most frequently used designations of morbid states in the literature. There are numerous definitions of syndrome currently in use. One which is accepted by most dysmorphologists, geneticists, and some clinicians states that syndrome is an etiologically defined entity of unknown pathogenesis. However, most writers use the term randomly to denote any abnormal condition, whether medical, social, or behavioral, when a more satisfactory designation cannot be found or created, or to emphasize special complexity (syndromic qualities?) of already named diseases, or merely to be amusing. The post‐Sydenham custom of naming of syndromes after physicians gave way in the mid‐20th century to methods wherein syndrome names incorporate clinical, etiological, genetic, and other significant characteristics. Other methods used in designating syndromes include using the names of the first patient known to be affected, acronyms and abbreviations, personal names of all kinds, and the like. Syndrome, once a unique and valuable term in the arsenal of medical vocabulary, has lost much of its usefulness through misuse.
Duty to disclose in medical genetics: A legal perspective
Authors: Pelias Mary Z. 
Published: June 2005

AbstractAs technical knowledge and public information in medical genetics continue to expand, the geneticist may expect to be held responsible for informing patients and clients about new developments in research and diagnosis. The long legal evolution of the physician's duty to disclose, and more recent findings of a physician's duty to recall former patients to inform them about newly discovered risks of treatment, indicate that medical geneticists may have a duty to disclose both current and future information about conditions that are or could be inherited. Recent case law supports findings of professional liability for both present and future disclosure, even in the absence of an active physician‐patient relationship. The requirement of candid and complete disclosure will affect the counseling approach in testing for deleterious genes and in providing medical treatment for minors with hereditary diseases. Finding a duty to recall may impose further professional burdens on the geneticist to reach beyond the immediate counseling arena and to recontact patients, perhaps years after their initial visit to genetics clinic.
Sir A.E. Garrod, congenital heart disease in Down syndrome, and the doctrine of fetal endocarditis
Authors: Lubinsky Mark S. 
Published: June 2005

AbstractArchibald Garrod was apparently the first to document congenital heart disease as a component of Down syndrome. This arose from his interest in fetal endocarditis, a theoretical cause of cardiac malformations, in vogue roughly from 1840–1940, that drew its strength from analogies with rheumatic heart disease in adults. Garrod's discovery sheds light not only on nineteenth century ideas about teratology, but also on his methodology, genius, and approaches that, in many ways, foreshadowed the techniques that guided his later work on inborn errors.
Autosomal recessive Peters anomaly, typical facial appearance, failure to thrive, hydrocephalus, and other anomalies: Further delineation of the Krause‐Kivlin syndrome
Authors: Frydman Moshe , Weinstock Arie L. , Cohen Herman A. , Savir Hanna , Varsano Itzhak 
Published: June 2005

AbstractTwo cousins and an unrelated patient, all offspring of consanguineous parents, presented with Peters anomaly, unusual facial appearance, disproportionate short stature, retarded skeletal maturation, and a variable degree of mental retardation. Variable digital, cardiac, CNS, and urogenital anomalies were present. The inheritance is probably autosomal recessive. The condition is a distinct clinical entity for which we suggest the eponym Krause‐Kivlin syndrome. Peters anomaly is thought to result from abnormal migration of neural crest cells. A similar mechanism was implicated in the pathogenesis of other disorders of the anterior chamber. The presence of Peters anomaly, and possibly of other corneal endothelial disorders in a newborn infant, should alert the clinician to the possibility of this syndrome. Communicating hydrocephalus (or brain atrophy) and polyhydramnios were documented in two patients, potentially allowing prenatal diagnosis in secondary familial cases.
Inversion‐duplication of bands q13→q21 of human chromosome 9
Authors: Luke Sunny , Verma Ram S. , Pebenito Rhandy , Macera Michael J. 
Published: June 2005

AbstractStructural abnormalities involving heterochromatic regions of the human genome are difficult to characterize because these segments are G‐band negative by GTG technique, a routinely used procedure in clinical cytogenetic laboratories. Chromosome abnormalities of such cases have gone undetected or were incorrectly characterized because these regions are so‐called heteromorphisms or variants. Consequently, much anxiety has been aroused by the confusion between a chromosome abnormality and a normal heteromorphic variant. We report the first documented case with a so‐called highly unusual h region of chromosome 9 which is not a variation but a structural rearrangement involving a paracentric inversion and a duplication. The major clinical features were psychomotor retardation, microcephaly, narrow palpebral fissures, renal and genital anomalies, vertebral anomalies, protruding tongue, and learning and behavioral problems. A concise review of variable duplicated segments of 9q is also provided.
Waardenburg I syndrome: A clinical and genetic study of two large Brazilian kindreds, and literature review
Authors: Da‐Silva Elias O. 
Published: June 2005

AbstractTwo large kindreds with Waardenburg I syndrome are described. The total number of affected individuals is 73. The major manifestations are telecanthus (the only constant anomaly in all cases), prominent nasal root, round or square tip of nose, hypoplastic alae, smooth philtrum, bushy eyebrows with synophrys, sensorineural deafness, heterochromia or hypoisochromia iridis, hypopigmented ocular fundus, white forelock, premature greying, and hypopigmented skin lesions. These and other aspects of the syndrome, associated findings, frequency, genetic heterogeneity, pathogenesis, animal models, and gene linkage and mapping are reviewed briefly.
Patient with multiple congenital anomalies and decreased production and processing of procollagen in cultured fibroblasts
Authors: Pavone L. , Incorpora G. , Fiumara A. , Sorge G. , Ramirez F. , McGarry J. , Wootten J. , Minor R. 
Published: June 2005

AbstractWe report on a patient with hip and elbow dislocations, joint hyperextensibility, peculiar facial appearance, torticollis, cryptorchidism, unilateral hexadactyly, and other minor anomalies. Cultured cells from this patient produce less type I procollagen and have a slower rate of processing of type I procollagen to collagen in the culture medium. We think that the pattern of clinical anomalies constitutes a previously unreported syndrome with type I procollagen defect as a manifestation of the syndrome.