bluuebunny/crossref_metadata_2025_split huggingface dataset:
Spondylometaphyseal dysplasia, sedaghatian type
Authors: Peeden J. N. , Rimoin D. L. , Lachman R. S. , Dyer M. L. , Gerard D. , Gruber H. E. 
Published: June 2005

AbstractIn 1980 Sedaghatian described an Iranian infant who died shortly after birth. At autopsy, he was found to have subacute myocarditis, cortical necrosis of kidneys, and adrenal and pulmonary hemorrhage. His skeletal abnormalities included mild rhizomelic shortness of his limbs and platyspondyly and “laciness” of the iliac wings. In 1987 Opitz et al. described another Iranian infant with a similar perinatal course and roentgenograms. This infant was born to first cousins, suggesting an autosomal recessive single gene defect. We report our findings of another infant with a lethal course. © 1992 Wiley‐Liss, Inc.
Genetic‐epidemiologic study of omphalocele and gastroschisis: Evidence for heterogeneity
Authors: Yang Ping , Beaty Terri H. , Khoury Muin J. , Chee Elsbeth , Stewart Walter , Gordis Leon 
Published: June 2005

AbstractOn the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, omphalocele (OM) and gastroschisis (GA) are considered causally and pathogenetically distinct abdominal wall defects. More than 50% of infants with OM have additional defects, but only about 15% of those with GA do. To evaluate whether there is heterogeneity between isolated and multiply affected cases of OM and GA, we analyzed epidemiologic characteristics and familial risks of major defects for 82 OM and 81 GA cases drawn from a population‐based study in the Maryland‐Washington, DC‐Northern Virginia area and born from 1980 through June 1987. We examined year of birth, sex, race, and maternal age distributions after stratifying the infants into isolated and multiple defect groups. We found significant differences in maternal age between cases with isolated OM and GA, but not between cases with GA or OM who had other defects. Using regressive logistic models, we analyzed familial aggregation of birth defects among relatives of infants with OM and GA. An autosomal recessive model of inheritance was found to be the most parsimonious explanation for the families of infants with isolated OM or GA. However, for families of infants with multiple defects, a sporadic or nongenetic model fit best. These findings are not only useful for estimating familial risk of major birth defects, but they also suggest further heterogeneity of infants with OM and GA according to the presence of other malformations. © 1992 Wiley‐Liss, Inc.
Williams syndrome in adults
Authors: Lopez‐Rangel E. , Maurice M. , McGillivray B. , Friedman J. M. 
Published: June 2005

AbstractThere are few published reports of adults with Williams syndrome (WS). We have evaluated ten adult WS patients. The patients in our study were very variable in clinical presentation, ranging from severely affected patients with complicated medical histories to mildly affected patients who are generally in good health. Cardiovascular anomalies and hypertension were frequent.Supravalvular aortic stenosis was seen in four patients, mitral valve prolapse in three, bicuspid aortic valve in one, valvular aortic stenosis in one, and pulmonary stenosis with right ventricular hypertrophy in one. Typical facial features included stellate irides, prominent cheeks, full lips, and micrognathia.Mental retardation was seen in all patients. Verbal skills were better developed than motor skills. All patients in our study lead active lives, and most are involved in sports. Some hold supervised jobs. Eight of our patients live with their parents and two in group homes. Independent living is restricted by their mental and adaptive limitations. © 1992 Wiley‐Liss, Inc.
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxity
Authors: Bonaventure J. , Stanescu R. , Stanescu V. , Allain J. C. , Muriel M. P. , Ginisty D. , Maroteaux P. 
Published: June 2005

AbstractWe report on a syndrome of spondylo‐epimetaphyseal dysplasia, dentinogenesis imperfecta, and ligamentous hyperextensibility in two sibs born to nonconsanguineous parents. This chondrodysplasia was characterized by severe shortness of stature and an osteoporosis without fractures.Electron microscopic examination of the cartilage documented large vacuoles of dilated rough endoplasmic reticulum within the cytoplasm of chondrocytes. Gel electrophoresis of pepsin‐soluble collagen extracted from cartilage demonstrated the presence of type II collagen chains with an abnormal mobility. Prolyl and lysyl hydroxylations were slightly increased. The abnormal molecules melted at a higher temperature than the normal ones. CNBr peptide mapping of type II collagen showed an altered electrophoretic migration of peptides CB 11, CB 8, and CB 10,5 whereas CB 9,7 looked normal. In addition, two small non‐collagenous proteins isolated from cartilage were not found in an age‐matched control individual but were detected in a normal newborn infant. The quantitation of proline‐labelled collagen synthesized by dermal fibroblasts demonstrated a 50% reduction of total collagen. This decrease essentially affected the amount of extracellular type I collagen, which was secreted less efficiently than in control cells. Nevertheless, type I collagen chains behaved normally on 5% polyacrylamide gels. The reduced mRNA levels of α1I and α2I chains might reflect either a transcriptional defect or a decreased stability of mRNA transcripts. We suggest that the association of both pathological chondrocytes producing altered collagen type II and decreased synthesis of type I could be responsible for this peculiar phenotype. The overmodification of α1II CNBr peptides is consistent with the presence of a single‐base substitution in the COL2A1 gene. Whether there is a direct causal relationship between the type II collagen defect and the underexpression of type I collagen will require clarification. © 1992 Wiley‐Liss, Inc.
Upper limb deficiencies and associated malformations: A population‐based study
Authors: Froster Ursula G. , Baird Patricia A. 
Published: June 2005

AbstractAs part of an ongoing analysis of limb deficiencies occurring among 1,213,913 consecutive livebirths in British Columbia during the years 1952–1984, all cases with deficiencies of the upper limbs were analysed with a view to identifying associated patterns of anomalies. This analysis resulted in seven subgroups. For each subgroup, incidence figures for cases with and without additional anomalies were calculated separately. The proportion of cases with additional anomalies varied markedly by subgroup. For example, 89% of cases with longitudinal defects of the radius had additional malformations, while only 28% of cases with transverse defects of the radius had other organ anomalies (χ2 = 40.55; P < 0.001, one degree of freedom). A preponderance of males was found among the cases with associated defects, particularly in the group with longitudinal defects of the radius (28 males, 14 females; χ2 = 14.10; P < 0.001). Clustering of specific patterns of associated malformations is described within subgroups. © 1992 Wiley‐Liss, Inc.
Tricho‐Rhino‐Phalangeal syndrome type II (Langer‐Giedion) with persistent cloaca and prune belly sequence in a girl with 8q interstitial deletion
Authors: Ramos Feliciano J. , McDonald‐McGinn Donna M. , Emanuel Beverly S. , Zackai Elaine H. 
Published: June 2005

AbstractA patient with the diagnosis of Langer‐Giedion syndrome (tricho‐rhino‐phalangeal syndrome type II) and interstitial 8q deletion was also noted to have persistent cloaca and prune belly sequence. This is the first report of this association. If it postulated that these latter embryonic defects may be due to the chromosome abnormality, supporting the definition of contiguous gene syndrome. © 1992 Wiley‐Liss, Inc.
Urinary tract involvement in EEC syndrome: A clinical study in 25 Brazilian patients
Authors: Nardi Aguinaldo C. , Ferreira Ubirajara , Netto Nelson Rodrigues , Magna Luis Alberto , Rodini E. S. O. , Richieri‐Costa A. 
Published: June 2005

AbstractWe have evaluated 25 patients (14 isolated and 11 familial cases) with the EEC syndrome for genitourinary (GU) tract anomalies through intravenous pyelogram (IVP), voiding urethrocystography, and sonographic examination. Fifty‐two percent of the patients (7 isolated and 6 familial cases) had involvement of the urinary tract, with no significant difference between isolated and familial cases. The present data seem to reflect the best estimate of the prevalence of genitourinary anomalies in patients with the EEC syndrome. © 1992 Wiley‐Liss, Inc.
Possible relationship between ulnar‐mammary syndrome and split hand with aplasia of the ulna syndrome
Authors: Franceschini P. , Vardeu M. P. , Dalforno L. , Signorile F. , Franceschini D. , Lala R. , Matarazzo P. 
Published: June 2005

AbstractWe describe a 3‐generation family in which mother, maternal grandfather, and 2 (male and female) children have variably manifestations of the ulnar‐mammary syndrome, including ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands, and a previously undescribed ectopia of upper canines. The index patient also had split‐hand appearance on the right due to complete absence of the 4th ray. To our knowledge this is the first documented example of split hand in the ulnar‐mammary syndrome. The hand anomaly raises the question of a possible causal relationship between ulnar‐mammary syndrome and the split hand with aplasia of the ulna syndrome, as already hypothesized by Lenz [1980]. © 1992 Wiley‐Liss, Inc.
Cytogenetic guidelines for fragile X studies tested in routine practice
Authors: Dewald Gordon W. , Buckley Diane D. , Spurbeck Jack L. , Jalal Syed M. 
Published: June 2005

AbstractSeveral organizations have proposed guidelines for fra(X) studies on peripheral blood lymphocytes. To evaluate these guidelines, we reviewed 1,033 consecutive specimens referred for fra(X) analysis. Each specimen was cultured with medium 199 and RPMI 1640 with 5‐fluorodeoxyuridine or excess thymidine. The karyotype and expression of fra(X) were established from 20 GTL‐ or QFQ‐banded cells and by screening of up to 130 more banded cells. We found anomalies other than fra(X) in 37 (3.6%) of the patients. We found 4% or more fra(X) cells in 38 (3.7%) cases from 36 unrelated families, including 33 (3.9%) of 850 males and 5 (2.7%) of 183 females. Another 4 females had 1 to 3% fra(X) cells. Six specimens were fra(X)‐positive in only one stress system, and 32 were positive in 2 systems. To find the first 2 fra(X) cells in males, we needed to study up to 36 cells in 31 cases, 50 in one case, and 57 in another. To find the first 2 fra(X) cells in females, we needed to study up to 17 cells in 4 cases and 57 in another. A strong family history of fra(X) occurred in 5 patients, and each one was fra(X)‐positive. Some manifestations of the fragile X syndrome occurred in 507 cases, 17 (3%) of which were fra(X)‐positive. Abnormalities considered unlikely to be the fragile X syndrome occurred in 103 cases, 3 (3%) of which were fra(X)‐positive. Use of chromosome breakage and fra(3)(p14) as quality control indicators of the fra(X) stress systems was found to be unreliable. Our findings support most of the proposed guidelines for fra(X) studies but indicate a need for modifications of others. © 1992 Wiley‐Liss, Inc.
Prenatal exclusion of choroideremia
Authors: van den Hurk J. A. J. M. , van Zandvoort P. M. , Brunsmann F. , Pawlowitzki I. H. , Holzgreve W. , Szabo P. , Cremers F. P. M. , van Oost B. A. 
Published: June 2005

AbstractWe performed prenatal testing to predict the inheritance of choroideremia (CHM) using a linked polymorphic DNA marker, DXS95. DNA analysis of chorionic villi at the 12th week of pregnancy indicated that the allele at risk had not been passed from the heterozygous mother to the fetus. This prenatal exclusion of choroideremia was confirmed by polymerase chain reaction‐single‐strand conformation polymorphism (PCR‐SSCP) analysis. © 1992 Wiley‐Liss, Inc.
Female twin with hunter disease due to nonrandom inactivation of the X‐chromosome: A consequence of twinning
Authors: Winchester Bryan , Young Elisabeth , Geddes Stella , Genet Sally , Hurst Jane , Middelton‐Price Helen , Williams Nicola , Webb Michael , Habel Alex , Malcolm Susan 
Published: June 2005

AbstractWe report the occurrence of Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl who was one of identical twins. Molecular studies showed nonrandom X‐inactivation in both her fibroblasts and lymphocytes, while her normal twin showed equal usage of both X chromosomes. In view of previous reports of 7 pairs of identical female twins in which one had Duchenne muscular dystrophy, it seems that twinning may be strongly associated with nonrandom X‐inactivation, and is not specific to the properties of the disease causing gene. © 1992 Wiley‐Liss, Inc.
Osteoporosis‐pseudoglioma syndrome
Authors: de Paepe Anne , Leroy Jules G. , Nuytinck Lieve , Meire Françoise , Capoen Jan 
Published: June 2005

AbstractTwo patients with osteoporosis pseudoglioma syndrome are described. Both are single children, born to nonconsanguineous, healthy parents.The first patient, a 17‐year‐old girl, had serious visual impairment since birth. She is severely dwarfed and has major skeletal deformities resulting in inability to walk since age 2 years.The second patient is an 18‐year‐old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs. She has been able to walk with support up to now. The clinical and radiological findings in these 2 patients reflect the clinical variability of the condition.Results of collagen studies in both patients are normal and differentiate this condition clearly from severe osteogenesis imperfecta, which it resembles. © 1993 Wiley‐Liss, Inc.
Potential role of an additive genetic component in the cause of amyotrophic lateral sclerosis and parkinsonism‐dementia in the western Pacific
Authors: Bailey‐Wilson Joan E. , Plato Chris C. , Elston Robert C. , Garruto Ralph M. 
Published: June 2005

AbstractAmyotrophic lateral sclerosis (ALS) and parkinsonism‐dementia (PD) are neurological degenerative disorders that occur in three high incidence foci in the western Pacific: among the Chamorros of Guam and the Commonwealth of the Northern Marianas Islands, among Japanese on the Kii peninsula of Honshu Island, and among the Auyu and Jakai peoples of southern West New Guinea. Previous studies have implicated both genetic susceptibility and environmental risk factors in the causation and familial clustering of these disorders. The data analyzed consist of 2,026 individuals in nuclear families ascertained on Guam through two mechanisms: (1) nuclear families were included in the study if one or both parents in the family were affected with ALS or PD or both; and (2) a group of “controls” was selected by obtaining nuclear families where neither parent was affected and both had lived through the age of risk. Clinically, ALS and PD are two distinct disorders. However, preliminary analyses indicated that combining all three diagnoses into one affected diagnosis for genetic analyses (thereby assuming any genetic effect on susceptibility to the two disorders was due to the same genetic mechanism) was reasonable. An age, sex and birth cohort‐specific liability was defined and segregation analysis was performed under both logistic and normal models for this liability at the time of disease onset. Under either model, purely environmental, Mendelian dominant and Mendelian recessive hypotheses could be rejected, but a two‐allele additive major locus hypothesis could not be rejected. © 1993 Wiley‐Liss, Inc.
National Neurofibromatosis Foundation International Database
Authors: Friedman J. M. , Birch Patricia , Greene Carol ,   NNFF International Database Participants
Published: June 2005

AbstractThe National Neurofibromatosis Foundation International Database is a system for collecting comprehensive information on the clinical manifestations and natural history of neurofibromatosis. Data are entered into personal computers at participating centres and are pooled at the Central Database and coordinating centre in Vancouver, Canada. The system includes special mechanisms to assure consistency among centres and to maintain patient confidentiality. The database is designed to foster collaborative clinical and molecular genetic research in many aspects of neurofibromatosis. © 1993 Wiley‐Liss, Inc.
Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta
Authors: Wenstrup Richard J. , Lever Laura W. , Phillips Charlotte L. , Quarles L. Darryl 
Published: June 2005

AbstractAlthough virtually all mutations that result in osteogenesis imperfecta (OI) affect the genes that encode the chains of type I procollagen, the effects of mutations in the COL1A2 gene have received less attention than those in the COL1A1 gene. We have characterized mutations in 4 families that give rise to different OI phenotypes. In three families substitutions of glycine residues by cysteine in the triple helical domain (a single example at position 259 and 2 families in which substitution of glycine at 646 by cysteine) have been identified, and in the fourth a G for A transition at position + 4 in intron 33 led to use of an alternative splice site and inclusion of 6 amino acids (val‐gly‐arg‐ile‐leu‐phe) between residues 585 and 586 of the normal triple helix. The relation between position of substitution of glycine by cysteine in the COL1A2 gene does not follow the pattern developed in the COL1A1 gene. To determine how COL1A2 mutations produce OI phenotypes, we have produced a full‐length mouse cDNA into which we plan to place mutations and examine their effects in stably transfected osteogenic cells and in transgenic animals.
Chemical cleavage method for the detection of RNA base changes: Experience in the application to collagen mutations in osteogenesis imperfecta
Authors: Bateman John F. , Lamande Shireen R. , Hannagan Marnie , Moeller Ingrid , Dahl Hans‐Henrik M. , Cole William G. 
Published: June 2005

AbstractWe discuss the definition of mutations in osteogenesis imperfecta (OI) using a chemical cleavage method for detecting mismatched bases in patient mRNA: control cDNA hetero‐duplexes. The method is based on the increased chemical modification of cytosines (Cs) by hydroxylamine and thymines (Ts) by osmium tetroxide when they are not paired with their complementary base. The DNA is then cleaved at the modified base with piperidine and the use of radioactively labeled DNA probes allows the position of the mismatched base to be determined by electrophoresis of the cleavage‐product. The precise mutations are then determined by specific amplification and sequencing of the region containing the mismatched base. In perinatally lethal OI (OI type II) mismatches have been detected in all 17 cases studied; 12 of these have been fully characterized. In 7 of these 12 cases the mismatches were point mutations in the genes for proα1(I) or proα2(I) which resulted in glycine substitutions in the triple helical region of the protein. Sequence variation was detected in addition to the glycine substitutions in 2 cases. In 2 cases the RNA mismatch resulted from changes in the amino acid sequence of the C‐propetide domain. In the 3 remaining cases the mismatch resulted from silent nucleotide sequence variants. In the less severe forms of OI we have studied, mismatches have been detected and characterized in 8 of 12 cases. In 4 of these 8 cases the mismatch resulted from presumably neutral sequence variation and in the other 4 cases mutations have been defined.Three of these were also glycine substitutions in the α1(I) or α2(I); and in one case, 014, the mutation was the deletion of exon 8 in the α1(I) seqence.
Moderately severe osteogenesis imperfecta associated with substitutions of serine for glycine in the α1(I) chain of type I collagen
Authors: Marini Joan C. , Lewis Mary Beth , Chen Kathleen 
Published: June 2005

AbstractWe have examined the type I collagen protein, RNA, and cDNA of 2 children with moderately severe (type IV) osteogenesis imperfecta (OI). They have in common a non‐lethal form of OI with ambulatory potential, over‐modification of type I collagen protein, and a substitution of serine for glycine in the collagen chain produced by one α1(I) allele.The first child (Marini et al.: J Biol Chem 264:11893‐11900, 1989) is now 7 years old, with the height of a 3‐year‐old. Her course includes significant remodeling of lower long bones and 4 femur fractures. She walks independently. A mishmatch was detected in her α1(I) mRNA using RNA/RNA hybrids; it was demonstrated to be due to a G→A point mutation in one allele of α1(I), resulting in the substitution of serine for glycine 832.The second child is now 6½ years old, with the height of 1½‐year‐old. Her history includes significant bowing of femurs and tibias, 6 femur fractures, S‐curve scoliosis, compression of all lumbar vertebrae, and limited short‐distance walking with braces. Her α1(I) mRNA has also been studied by RNA hybrid analysis; there is a single G→A change in one α1(I) allele causing the substitution of serine for gly 352.Both children have moderately severe OI. However, the serine substitution at gly 352 is associated with a more severe phenotype then is the serine substitution at gly 832. Compared to substitutions described in other cases of OI, the serine 352 is located in the middle of a cluster of cysteine substitutions associated with non‐lethal OI. The ser 832 is located near another non‐lethal substitution of serine for glycine but is otherwise flanked by lethal sub‐stitutions. These data support a model of OI cause in which crucial and non‐crucial regions are interspersed along the type I collagen chain. Whether a mutation located in a particular region causes OI type II or OI type IV would then depend on the importance of that region for the interaction of type I collagen with other matrix components or for intracellular processing.
Immunohistochemical localization of interstitial collagens in bone tissue from patients with various forms of osteogenesis imperfecta
Authors: Nerlich Andreas G. , Brenner Rolf E. , Wiest Irmgard , Lehmann Hartwig , Yang Chunlin , Müller Peter K. , von der Mark Klaus 
Published: June 2005

AbstractImmunohistochemical studies of bone from individuals with osteogenesis imperfecta (OI) type II, OI type III, or OI type IV demonstrate a similar pattern, but varying extent, of the abnormal presence of interstitial collagens in bone matrix. OI type II bone had nests of cartilage with type II collagen, and significant type III collagen in the bone matrix. In OI types III and IV, type II collagen was present only in epiphyseal cartilage but bone still contained type III collagen. These findings resembled those in developing fetal bone indicating the “immature” nature of OI bone.
Osteogenesis imperfecta and hyperplastic callus formation: Light‐ and electron‐microscopic findings
Authors: Stöss H. , Pontz B. , Vetter U. , Karbowski A. , Brenner R. , Spranger J. 
Published: June 2005

AbstractIn rare cases of osteogenesis imperfecta, an “overshoot” growth of new bone may occur, which, clinically gives the impression of a tumour. This condition is known as hyperplastic callus formation. Morphology showed an excessive mixed desmal‐chondral osteoneogenesis. Atypical collagen fibrils in non‐callus tissue represent an indicator for this callus formation in individual patients.