bluuebunny/crossref_metadata_2025_split huggingface dataset:
Long‐term outcome of Hurler syndrome following bone marrow transplantation
Authors: Whitley Chester B. , Belani Kumar G. , Chang Pi‐Nian , Summers C. Gail , Blazar Bruce R. , Tsai Michael Y. , Latchaw Richard E. , Ramsay Norma K. C. , Kersey John H. 
Published: June 2005

AbstractPrevious reports suggested a therapeutic response of lysosomal storage diseaes such as Hurler syndrome following bone marrow transplantation. However, a clearer understanding of outcome has awaited long‐term follow‐up. We evaluated prospectively 11 consecutive patients with Hurler syndrome receiving marrow from an HLA‐identical sib donor between September 1983–October 1988. Follow‐up evaluations included assessment of donor engraftment by restriction fragment polymorphism analysis, determination of leukocyte α‐L‐iduronidase level, Measurement of lumbar cerebrospinal fluid (CSF) pressure, computerized tomography (CT) of the brain, and psychometric testing. In this series there was survival rate of 9/11 (82%) with all survivors showing complete (7 patients) or partial (2 patients) donor engraftment. Prospective longitudinal evaluation of the 9 surviving children, now 3.8–8.9 years posttransplantation (median 5.5) demonstrated persistence of previously deficient leukocyte α‐L‐iduronidase at levels reflecting the donor genotype and degree of dono engraftment. Urinary glycosaminoglycan excretion declined to near‐normal within 5 months of donor engraftment. Prior to treatment, 7 of 8 children studied were found to have occult intracranial hypertension (lumbar CSF pressurse < 20 cm CSF); however, all surviving children attained normal or near‐normal pressure within 18 months of donor engraftment. Long‐term follow‐up CT imaging of the brain did not show progressive volume loss (cerebral atrophy) after donor engraftment. Of 9 survivors, 4 children having a developmental quotient (DQ, Mental Development Index on Bayley Scales of Infant Development) above 80 prior to transplantation subsequently maintained IQ scores above this level. However, 5 patients with lower pretransplant DQ scores now have significant cognitive deficits and attention deficit hyperactivity disorder. Progressive brain damage resulting from communicating hydrocephalus may be prevented by successful engraftment. Early transplantation of children with Hurler syndrome who have normal intelligence is likely to have the clearest benefit becaue long‐term intellectual outcome will be limited by brain damage which has occurred prior to treatment. © 1993 Wiley‐Liss, Inc.
Bone dysplasia, midface hypoplasia, and deafness: Three new patients and review of the literature
Authors: Kääriäinen Helena , Barrow Margaret , Hennekam Raoul 
Published: June 2005

AbstractWe report on 3 unrelated patients with a syndrome of sensorineural deafness (3/3), midface hypoplasia (3/3), disproportionate shortness with short limbs (3/3), cleft palate or bifid uvula (3/3), and lack of high myopia (3/3). This brings the number of reported patients with this condition to 11. Different names such as oto‐spondylo‐megaepiphyseal dysplasia (OSMED) or the Insley‐Astley syndrome have been used. We propose the name “syndrome of bone dysplasia, midface hypoplasia, and deafness” which lists the 3 main manifestations of the condition. © 1993 Wiley‐Liss, Inc.
Charles Darwin and other great men in correspondence with Carl Wilhelm von Naegeli
Authors: Naegeli Walter , Wiedemann Hans‐Rudolf 
Published: June 2005

AbstractThe great Swiss‐German Botanist Carl Wiljhelm von Naegeli (1817–1891) was a student of Lorenz Oken, A.P. de Candolle, and Matthias Jocob Schleiden and became a key figure in “genetic” (i.e., evolutionary‐developmental) biology in the mid‐late 19th century. He was an expert on the hawk‐weed, Hieracium and also made important contributions to microbiology. One of his many outstanding students was Carl Correns, one of the 3 rediscoverers of Mendel's work. Naegeli was an early proponent and defender of Darwin. The correspondence preserved in the Naegeli family contains many important letters between Naegeli and his contemporaries. Those from Mendel to Naegeli have passed out of the Naegeli family and were published by Correns earlier in the century. However, exceptionally notable items still in the archives of the Naegeli family include 4 surviving letters from Darwin, 2 letters from Virchow, and 10 from Justus von Liebig. In spite of a lack of appreciation of Mendel's work, we call attention to the importance of those surviving documents from an era in which very few of the greatest naturalists and founders of modern biology—including Goethe, Darwin, Galton, Agassiz, von Humboldt, von Baer—were without “blind spots.” © 1993 Wiley‐Liss, Inc.
New findings in short rib syndrome
Authors: Cideciyan Daniela , Rodriguez Maria M. , Haun Ronald L. , Abdenour George E. , Bruce Jocelyn H. 
Published: June 2005

AbstractThis white infant, born at 37 weeks of gestation, had a large cranium, bilateral an ophthalmia, a middline cleft lip and palate, hypoplastic chest with short ribs, slightly protuberant abdomen, short limbs, bilateral single transverse palmar creases, a single unbilical artery, normal female external genitalia, normal (46 XY) chromosomes, and radiographic findings suggesting a short‐rib (polydactyly) syndrome type IV (Beemer‐Langer). Autopsy showed pulmonary hypoplasia, bilateral renal cystic dysplasia, intrahepatic bile duct cysts with periportal fibrosis, pancreatic cysts, absent internal genitalia, an atrophic optic chiasm, absent optic nerves, a single left anterior cerebral artery, polymicrogyria, and fusion of the frontal lobes, preoptic region, mammillary bodies, and thalami. © 1993 Wiley‐Liss, Inc.
Mixed gonadal dysgenesis: Clinical, cytogenetic, endocrinological, and histopathological findings in 16 patients
Authors: Méndez Juan Pablo , Ulloa‐Aguirre Alfredo , Kofman‐Alfaro Susana , Mutchinick Osvaldo , Fernández‐del‐Castillo Carlos , Reyes Edgardo , Pérez‐Palacios Gregorio 
Published: June 2005

AbstractWe describe clinical, cytogenetic, endocrine, and histopathological findings in 16 patients with mixed gonadal dysgenesis (MGD). All patients execpt 1 presented genital ambiguity and 10 of them had Ullrich‐Turner manifestations. The 45, X/46, XY karyotype was the most frequent with a predominance of 45, X cells in both peripheral lymphocytes and gonads. In all cases Müllerian and Wolffian remnants and/ or derivatives were found and in some patients both Wolffian‐and Müllerian‐derived structures were identified on the streak or testicular side. Postpubertal patients exhibited variable degrees of virilization and all of them had hypergonadotropism coexisting with low to normal baseline serm levels of testosterone; their testicular response to human chorionic gonadotropin (HCG) in terms of testosterone secretion was also variable, ranging from minimal to almost a normal response. All prepubertal patients but 1 had normal baseline levels of pituitary gonadotropins and testoserone and their gonadal response to the HCG challenges was highly variable. With the exception of 1 case, who had a 45X/46XY (P−) karyotype, no correlation between the cytogenetic data and degree of external genital ambiguity and the hormonal findings was observed. Additional information on the specific structural abnormalities involving the testis‐determining gene of the Y chromosome in patients with MGD is needed in order to further understand the mechanisms responsible for the wide variability characteristic of this disorder. © 1993 Wiley‐Liss, Inc.
Molecular and cytogenetic characterization of 9p– abnormalities
Authors: Teebi Ahmad S. , Gibson Lisa , McGrath James , Meyn M. S. , Breg W. Roy , Yang‐Feng Teresa L. 
Published: June 2005

AbstractWe report on 2 girls with terminal deletion of the short arm of chromosome 9 with concurrent duplication unrecognizable by routine chromosome studies. The phenotype of the patients was not specifically suggestive of the 9p– syndrome in the absence of trigonocephaly and long philtrum as cardinal manifestations. In addition to psychomotor retardation, their manifestations were mild and include upward slant of palpebral fissures and dolichomesophalangy which are characteristic of del(9p). Chromosome abnormalities were de novo in both cases.The two rearranged chromosomes 9 exhibit similar G‐banding patterns and suggested the possible duplication of distal 7p. Fluorescence in situ hybridization (FISH) with a chromosome‐7 specific library probe indeed identified that one derivatie chromosome 9 was the result of a translocation between chromosomes 7 and 9 [der(9)t(7;9)(p15.3;p24)] but failed to detect a signal on the other derivative 9. In the second case, the concurrent abnormality was an inverted duplication of proximal 9p and deletion of distal 9p [invdup(9)(p13→p22::p22→qter)] confirmed by FISH using a chromosome 9 specific librarayprobe. FISH clearly identified the origin of these 2 abnormal choromosomes 9 and provided crucial information for clinical evaluation We emphasize the importance of utilizing updated cytogenetic and molecular techniques in the precise delineation of subtle or complex abnormalities where there are no useful phenotypic clues. © 1993 Wiley‐Liss, Inc.
Cognitive and behavioral profile of the oculocerebrorenal syndrome of Lowe
Authors: Kenworthy Lauren , Park Taesung , Charnas Lawrence R. 
Published: June 2005

AbstractBackground: The oculocerebrorenal syndrome of Lowe (OCRL) is an X‐linked disorder characterized by congenital cataracts, cognitive impairment, and renal tubular dysfunction. Significant behavioral difficulties have been reported, but no formal study of intelligence or behavior has been described. Methods: We surveyed IQ and behavior using archival data and standardized instruments in 47 affected males. Results: Mean IQ was in the moderate mental retardation range (40 ≤ IQ ≤ 54), with 25% of tested individuals in normal range (IQ ≥ 70). The OCRL population was comparable to a normative population with mental retardation in language, communication, and socialization skills, but lower in independent living skills than means of either populations of individuals with mental retardation or visual impairment. Maladaptive behaviors, particularly stubbornness, temper tantrums, and stereotypic behaviors, were very frequent (>80%). Conclusions: The diagnosis of OCRL is compatible with normal intelligence. Maladaptive behaviors significantly interfere with adaptive functions. These behaviors appear to define a characteristic behavioral phenotype in OCRL. © 1993 Wiley‐Liss, Inc.
Isochromosome 18p in a mother and her child
Authors: Abeliovich Dvorah , Dagan Judith , Levy Alina , Steinberg Avraham , Zlotogora Joel 
Published: June 2005

AbstractWe present a familial case of isochromosome 18p [i(18p)] as a supernumerary chromosome. The mother, who is a mosaic for i(18p) with partial tetrasomy 18p syndrome, transmitted the isochromosome to her only child. The child has the full syndrome of tetrasomy 18p. This is the first case of mosaicism i(18p) in an adult patient with clinical manifestations. © 1993 Wiley‐Liss, Inc.
Pseudoaminopterin syndrome
Authors: Verloes Alain , Bricteux Guy , Koulischer Lucien 
Published: June 2005

AbstractWe report on a boy with a combination of manifestations reminiscent of aminopterin embryopathy: brachyturricephaly with craniosynostosis, poorly mineralised vault, upslanted palpebral fissures, malar hypoplasia, high‐arched palate, micrognathia, thick, abnormal auricles, ASD, minor hand anomalies, growth and mental ratardation. Three convincing cases of “Aminopterin Syndrome Sine Aminopterin” have been reported (the fourth case possibly having the Juberg–Hayward syndrome). Variability and heterogeneity of cases with apparent aminopterin embryopathy are discussed. © 1993 Wiley‐Liss, Inc.
Hirsutism–skeletal dysplasia–mental retardation syndrome with abnormal face and a uric acid metabolism disorder
Authors: Wiedemann Hans‐Rudolf , Oldigs Hans‐Dieter , Oppermann Hans‐Conrad , Oster Oskar 
Published: June 2005

AbstractWe report on a German boy, born to nonconsanguineous parents, with an apparently new combination of multiple congenital anomalies including extraordinary hirsutism, marked brachycephaly, abnormal position of thumbs, pedes excavati with claw‐toes, an abnormal face, and mental retardation. Additionally the boy manifests a disorder of uric acid metabolism. This sporadic case may represent a new syndrome due to a fresh autosomal or X‐linked mutation, or chance‐isolated case due to segregation of an autosomal recessive gene. © 1993 Wiley‐Liss, Inc.
Oral zinc therapy in the treatment of α‐mannosidosis
Authors: Wong Lawrence T. K. , Vallance Hilary , Savage Angela , Davidson A. G. F. , Applegarth Derek 
Published: June 2005

AbstractHuman α‐mannosidosis is a lysosomal storage disorder characterized by mental retardation, dysostosis multiplex, and hepatosplenomegaly. Deficiency of the enzyme leads to accumulation of mannose‐rich glycoconjugates in tissues. Zinc sulphate has been shown to stimulate α‐mannosidase activity in vitro. Oral zinc therapy was attempted on a 4‐year‐old boy with α‐mannosidosis for 3 years. After almost 10 years of follow‐up on and off zinc therapy, we must conclude that oral zinc does not substantially affect the clinical course of α‐mannosidosis. © 1993 Wiley‐Liss, Inc.
Causal study of isolated ulnar‐fibular deficiency in Hungary, 1975–1984
Authors: Czeizel Andrew E. , Vitéz Márta , Kodaj Imre , Lenz Widukind 
Published: June 2005

AbstractA population‐based and validated data set of 114 cases with isolated ulnar‐fibular deficiency was evaluated in Hungary, 1975–1984. Ulnar‐fibular type had the third most common birth prevalence (0.07 per 1000) among isolated congenital limb deficiency types. This type is relatively rarely associated with nonlimb defects, a single limb is affected in two‐thirds of cases, nearly all other cases had femur‐fibula‐ulna (FFU) dysostosis. Upper and lower limbs, right and left sides, are equally affected, however, there is an obvious male excess (71%). Case‐control analysis indicated a lower birth weight due to intrauterine growth retardation, higher birth order, lower socioeconomic status of parents, and a more frequent reported subfertility. The family study identified one familial cluster (one siboccurrence) among 331 first‐degree relatives. © 1993 Wiley‐Liss, Inc.
Absence of chromosome fragility at 19q13.3 in patients with myotonic dystrophy
Authors: Jalal S. M. , Lindor N. M. , Michels V. V. , Buckley D. D. , Hoppe D. A. , Sarkar G. , Dewald G. W. 
Published: June 2005

AbstractMyotonic dystrophy (DM) is an autosomal dominant disorder characterized by a trinucleotide (AGC) amplification at 19q13.3. The degree of trinucleotide amplification may increase in successive generations and generally correlates with severity of the disorder. Because amplification of a trinucleotide repeat is also associated with the observation of a fra(X)(q27.3) in the fragile X syndrome, we investigated whether chromosome fragility at 19q13.3 might be inducible in patients with DM. Using 3 different culture stress systems (medium 199, RPMI 1640 with excess TdR, and RPMI 1640 with FudR) and high resolution chromosome analyses, we studied 6 individuals with DM and 5 unaffected relatives representing two unrelated families. Molecular studies were done on two of the most affected patients and showed AGC repeat sequences of 970 and 1,260 at 19q13.3. The normal range of AGC repeat is 5 to 30. We found no indication of fragility at 19q13.3 in any of these individuals. © 1993 Wiley‐Liss, Inc.
Newly recognized autosomal dominant disorder with craniosynostosis
Authors: Warman Matthew L. , Mulliken John B. , Hayward Peter G. , Müller Ulrich 
Published: June 2005

AbstractWe report a family with a newly recognized form of autosomal dominant craniosynostosis. The disorder has high penetrance and variable expression with respect to sutural involvement and cranial abnormalities, ranging from fronto‐orbital recession to clover‐leaf skull deformity. Associated problems included headache, poor vision, and seizures; intelligence, however, is normal. Assignment of a well‐described syndromic designation, e.g., Crouzon, Pfeiffer, Saethre‐Chotzen, or Jackson‐Weiss, is precluded based upon the absence of characteristic changes, i.e., midfacial hypoplasia, orbital hypertelorism, blepharoptosis, hand anomalies, or foot anomalies. The large size of this family and high penetrance of the disorder suggests that this may be an excellent candidate for positional cloning of a locus important in craniofacial development. © 1993 Wiley‐Liss, Inc.
Amniotic band sequence and limb defects: Data from a population‐based study
Authors: Froster Ursula G. , Baird Patricia A. 
Published: June 2005

AbstractCases with amniotic bands were analysed separately as part of an ongoing study of limb defects occurring among 1,213,913 liveborn infants in British Columbia during the years 1952 to 1984. A total of 24 cases with this specific condition was identified among 659 cases with limb defects. The calculated incidence for amniotic band sequence with significant limb involvement was 0.19 in 10,000 livebirths. This is a minimal incidence, as cases without defects of the limbs, but with constriction rings were not identified with this approach. Familial cases and cases with additional anomalies were found. © 1993 Wiley‐Liss, Inc.
Mosaic tetrasomy 8p
Authors: Newton Dale , Hammond Lyn , Wiley John , Kushnick Theodore 
Published: June 2005

AbstractWe report on a patient with mosaic tetrasomy 8p [46,XX/47,XX+i(8p)]. The patient has 2 fused vertebrae, abnormal ribs, congenital heart defects, agenesis of corpus callosum, hypotonia, and delayed development. The patient's developmental delays are most marked in receptive and expressive language skills, with more moderate delays on cognitive, sensorimotor, and motor skill testing. These findings are similar to those of the 3 previously reported patients with mosaic i(8p). © 1993 Wiley‐Liss, Inc.
Two consecutive hydrolethalus syndrome‐affected pregnancies in a nonconsanguinous black couple: Discussion of problems in prenatal differential diagnosis of midline malformation syndromes
Authors: Pryde Peter G. , Qureshi Faisal , Hallak Mordechai , Kupsky William , Johnson Mark P. , Evans Mark I. 
Published: June 2005

AbstractHydrolethalus syndrome is a rare autosomal recessive (AR) disorder characterized by polyhydramnios, CNS abnormalities, cleft lip/palate, micrognathia, and polydactyly. Its molecular basis is unknown and prenatal diagnosis is challenging due to phenotypic overlap with several other midline malformation syndromes. A 34‐year‐old G3P2, nonconsanguinous, married, Africa‐American woman was referred at 19 weeks of gestation after ultrasound finding of “multiple congenital anomalies.” A previous pregnancy had been terminated following ultrasound findings of polyhydramnios, cleft lip/palate, polydactyly, severe hydrocephalus, and a Dandy‐Walker malformation (DWM). Level II ultrasound evaluation of the current pregnancy demonstrated all of the anomalies which had been present in her previous pregnancy. Karyotype of amniocytes was 46,XX. Autopsy following pregnancy termination confirmed ultrasound findings. The pedigree, sonographic, and autopsy findings in this case were most consistent with hydrolethalus syndrom, although other AR multiple midline malformation syndromes were considered. Our case was detected by 19 weeks. Confident differential diagnosis is difficult for the geneticist and even more so for the sonologist given the technical limitations of ultrasound. It is uncertain whether these mendelian midline malformation syndromes represent slightly different phenotypic expressions of a common genetic defect or are manifestations of allelic and or locus heterogeneity. We suggest that for prenatal diagnostic purposes, in the absence of knowledge of the molecular basis of these disorders, the fine distinctions are not crucial as long as their mendelian inheritance is recognized and presence or absence of manifestations which make them severe are ascertained. © 1993 Wiley‐Liss, Inc.
Use of fluorescence in situ hybridization to confirm the interpretation of a balanced complex chromosome rearrangement ascertained through prenatal diagnosis
Authors: Wang Hungshu , McLaughlin Margaret , Thompson Calvin , Hunter Alasdair G. W. 
Published: June 2005

AbstractA balanced complex chromosome rearrangement (BCCR) involving 3 chromosome with 4 breakpoints, was studied because her fetus was discovered to have an unbalanced reciprocal translocation (7q;10q). Analysis of high resolution bands and the application of fluorescence in situ hybridization has identified the BCCR as der (7)t(7;10)(q21.13;q23.33)ins(21;7)(q21.3;q11.22q21.13), der (10)t(7;10)(q21.13;q23.33), der (21)ins(21;7)(q21.3;q11.22q21.13). Alternate segregation of the BCCR appears to be favoured and has resulted in two pregnancies with an unbalanced chromosome constitution. © 1993 Wiley‐Liss, Inc.
Two distinct mutations in a single dystrophin gene: Identification of an altered splice‐site as the primary becker muscular dystrophy mutation
Authors: Wilton S. D. , Johnsen R. D. , Pedretti J. R. , Laing N. G. 
Published: June 2005

AbstractA single base change in the 5′ splice‐site of intron 19 has been identified as the cause of the Becker muscular dystrophy in a family which had previously been deduced to carry both a major deletion and another, at that stage unidentified, mutation in the same dystrophin gene [Laing et al., 1992]. RNA from a muscle biopsy of one of the Becker muscular dystrophy patients in the family was analysed using the reverse transcriptase‐polymerase chain reaction (RT‐PCR) to study the mature gene transcript. Exon 19 was deleted from the dystrophin mRNA but present at the genomic level. The loss of exon 19 in the mature mRNA was found to be, associated with an A to C mutation in the 5′ splice site of intron 19. Deletion of exon 19 should alter the reading frame of the mRNA and be associated with a severe from of muscular dystrophy; however, low levels of normal‐size dystrophin message and dystrophin were present in this patient. The distance between the splice‐site mutation and the secondary deletion in the dystrophin gene is such that it would seem unlikely that the initial base change could act as permutation for the deletion. Specific primers to detect the splice‐site mutation have been designed and used to genotype all relatives. © 1993 Wiley‐Liss, Inc.
Fingernail angle in girls with Ullrich‐Turner syndrome
Authors: Kaplowitz Paul B. , Chernausek Steven D. , Horn Jo Ann 
Published: June 2005

AbstractIncreased angle of insertion of the fingernails is known to be a common finding in girls with Ullrich‐Turner syndrome (UTS), but there are few data on the frequency of this finding and no quantitative data that define what is a normal fingernail angle. To assess the usefulness of this measurement in evaluating patients with suspected UTS, we obtained tracings of 6 different fingernails to determine the mean fingernail angle (MFA) in 40 patients with UTS and compared the results with control girls and adults. As a group, the 24 girls with 45,X had an average MFA of 8.9°, compared to 6.8° for the 16 mosaics and variants, 3.0° for normal children and 1.3° for normal adults. Although there was overlap between the groups, 79% of 45,X girls and 56% of variants had an MFA of >6°, whereas only 8% of the combined control individuals had an MFA of >6°. Reproducibility of MFA determinations based on tracings obtained at consecutive visits was excellent (r = 0.92). There was no clear correlation between the MFA and the severity of the UTS phenotype. Determination of MFA is a simple, objective measurement which, when combined with other clinical findings, may aid the clinician in making a diagnosis of UTS. © 1993 Wiley‐Liss, Inc.