bluuebunny/crossref_metadata_2025_split huggingface dataset:
Severe spondylocostal dysostosis associated with other congenital anomalies: A clinical/epidemiologic analysis and description of ten cases from the Spanish registry
Authors: Martínez‐Frías María‐Luisa , Bermejo Eva , Paisàn Luis , Martín Martín , Egüés Javier , López José‐Antonio , Martínez Salvador , Orbea Carlos , Cucalón Fermín , Gairi Josep‐María , Urioste Miguel , de la Cruz María‐Angeles 
Published: June 2005

AbstractWe describe 10 cases born to nondiabetic mothers who presented with severe spondylocostal dysostosis (SCD) associated with other anomalies, identified among 20,526 malformed liveborn infants from the Spanish Collaborative Study of Congenital Malformations (ECEMC). We analyze the associated malformations in the 10 cases with severe SCD, as well as in all cases with less severe SCD among children with MCA patterns of unknown cause.Cases with SCD were preferentially associated with caudal dysgenesis, diaphragmatic hernia, and central nervous system anomalies. © 1994 Wiley‐Liss, Inc.
Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant
Authors: Suri Mohnish , Kabra Madhulika , Verma Ishwar C. 
Published: June 2005

AbstractWe report on a 1‐month‐old infant with blepharophimosis, telecanthus, ear anomalies, and microstomia. He also had a long philtrum and a narrow, high‐arched palate. This case is very similar to the cases re‐ported by Simosa et al. [1989: Am J Med Genet 32:18–186]. In addition, our patient had tongue tie and camptodactyly of fingers. © 1994 Wiley‐Liss, Inc.
Increased risk for type I (insulin‐dependent) diabetes in relatives of patients with alopecia areata (AA)
Authors: Wang Sue‐Jane , Shohat Tamar , Vadheim Constance , Shellow William , Edwards Joel , Rotter Jerome I. 
Published: June 2005

AbstractThe prevalence of various chronic diseases was compared in 517 individuals with alopecia areata, and 2,969 of their first degree relatives. As previous reports have suggested an increased incidence of diabetes in relatives of patients with alopecia areata, special attention was given to the prevalence of Type 1 and Type 2 diabetes in the patients and in their relatives. Several immunologic diseases were increased in alopecia probands and relatives. Thyroid disease, vitiligo, Addison disease, and pernicious anemia were more prevalent in probands and in their relatives than in the general population. Specifically, a high rate of thyroid disease was found in probands (14.7%) and in their first degree relatives (4.2%). Only one proband had Type 1 diabetes, yet there were 14 sibs with Type 1 diabetes. Thus, Type 1 diabetes was significantly more prevalent in the sibs (1.2%) than in either the probands with alopecia (0.2%), or the general population (0.12–0.25%) (P < 0.05)). In contrast, Type 2 diabetes was not more common in probands or in sibs than in the general population. These data suggest that alopecia areata protects against Type 1 diabetes in predisposed individuals. The high rate of thyroid disease suggests that screening probands and first degree relatives for thyroid disease should be considered. © 1994 Wiley‐Liss, Inc.
Split hand/split foot, syndactyly, urinary tract obstruction, radial, diaphragmatic, and neural tube defects: Czeizel‐Losonci syndrome?
Authors: Genuardi Maurizio , Silvestri Evelina , Tozzi Carla 
Published: June 2005

AbstractWe report on a baby girl with absence of the left hemidiaphragm, lumbosacral myelomeningocele, syndactyly with limb deficiencies, and bilateral hydronephrosis. A similar array of malformations was described previously by Czeizel and Losonci [Hum Genet 77:203–204, 1987] in a single family which showed a transmission pattern suggesting autosomal dominant inheritance with variable expressivity. The presence of limb abnormalities and the location of the neural tube defects in these cases suggest that the underlying pathogenesis probably does not involve the same disturbances of midline field development which have been postulated to occur in the schisis association. © 1994 Wiley‐Liss, Inc.
Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)]
Authors: Boccone Loredana , Meloni Antonella , Falchi Angela M. , Usai Valeria , Cao Antonio 
Published: June 2005

AbstractThis paper reports a further case of blepharophimosis, ptosis, epicanthus inversus (BPES) syndrome associated with a reciprocal translocation [46,XY,t(3;7)(q23;q32)], involving band 3q23. This case supports the assignment of a BPES gene(s) to the 3q23 region. © 1994 Wiley‐Liss, Inc.
High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR‐1 mutation associated with protein expression
Authors: Hagerman Randi J. , Hull Claire E. , Safanda John F. , Carpenter Isabelle , Staley Louise W. , O'Connor Rebecca A. , Seydel Charlotte , Mazzocco Michele M. M. , Snow Karen , Thibodeau Stephen N. , Kuhl Derek , Nelson David L. , Caskey C. Thomas , Taylor Annette K. 
Published: June 2005

AbstractFragile X (fra(X)) males with a standardized IQ score of 70 or higher represent a high functioning (HF) or nonretarded fra(X) male group. This group, which does not include nonpenetrant males, has received little research attention to date. Of 221 fra(X) males who had been evaluated through The Children's Hospital in Denver since 1981 and had completed cognitive or developmental testing, 29 (13%) were high functioning by the above definition. We found that HF males on the whole had a lower cytogenetic score and were younger than retarded fra(X) males, but there was no difference between these two groups in the number of typical fra(X) physical manifestations present. FMR‐1 DNA testing was performed on 134 fra(X) males and methylation status was determined for 51 of these. A greater percentage of HF males had a mosaic pattern or an incompletely methylated full mutation than did retarded males. A unique DNA pattern, an unmethylated fully expanded mutation, was discovered in 3 of the highest functioning fra(X) males. Protein studies performed on 2 of these males demonstrated the presence of FMR‐1 protein, albeit at lower levels than normal. FMR‐1 protein was not present in retarded fra(X) males. Significant FMR‐1 protein expression may be responsible for higher cognitive functioning in the 2 males with unmethylated fully expanded mutations compared to retarded fra(X) males. © 1994 Wiley‐Liss, Inc.
No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome
Authors: Chiurazzi Pietro , de Graaff Esther , Ng Jessica , Verkerk Annemieke J. M. H. , Wolfson Sloan , Fisch Gene S. , Kozak Libor , Neri Giovanni , Oostra Ben A. 
Published: June 2005

AbstractMost fragile X patients have a significant increase in the number of CGG repeats in the FMR1 gene. Two patients were described with a deletion and one patient with a point mutation in the FMR1 gene. We describe 5 patients with a fragile X or Martin‐Bell phenotype. Two brothers were discordant for the region containing the FMR1 gene; if there is a common cause for the mental retardation this is not located in the FMR1 gene. In the other 3 patients the expression of the FMR1 gene was found to be normal and no abnormalities were noted in the FMR1 mRNA. No amplification was found in the GCC repeat which is associated with the fragile site FRAXE. We conclude that the Martin‐Bell phenotype can also be caused by mutations outside the FMRl gene. © 1994 Wiley‐Liss, Inc.
Modeling methylation and IQ scores in fragile X females and mosaic males
Authors: Kolehmainen Karen , Karant Yasha 
Published: June 2005

AbstractBoth fragile X females and mosaic males carry a methylated FMR1 allele in some cells and an unmethylated allele in other cells. Due to FMR1 protein produced in cells with an unmethylated allele, these individuals are expected to display a less severe cognitive phenotype than non‐mosaic affected males. A larger range in cognitive abilities is expected for these individuals due to individual variation in X‐inactivation or mosaicism ratios. These cognitive effects are well documented for females and have been suggested for mosaic males. Data on fragile X females suggest an approximately linear decrease in mean IQ score as a function of the fraction of cells with the mutation carried on the active X chromosome. Analysis of these data suggests that threshold effects in the relationship between IQ score and X‐inactivation ratios are negligible, and that X‐inactivation occurs randomly (with no preferential inactivation of either X chromosome) at a stage when the embryo consists of approximately 5 cells. A similar analysis of future data on mosaic males could yield estimates of the probability that a given cell will carry a methylated FMR1 allele and of the number of embryonic cells at the time that mosaicism is established. Distributions of IQ scores among a population of heterozygotes or mosaic males are predicted for several values of these parameters. These distributions include random contributions to IQ scores due to non‐fragile‐X‐related effects, as well as X‐inactivation or mosaicism ratios that vary from one individual to another. © 1994 Wiley‐Liss, Inc.
Emotional and neurocognitive deficits in fragile X
Authors: Sobesky William E. , Pennington Bruce F. , Porter Deborah , Hull Claire E. , Hagerman Randi J. 
Published: June 2005

AbstractWe have studied the neurocognitive deficit in premutation and full mutation women as compared to control women and to explore the relationship between those deficits and the incidence of emotional problems. Four groups of women were examined: two fragile X (fra(X)) negative control groups, one of which grew up in fra(X) families and one not; and two DNA positive groups, one with a premutation (CGG repeats <200) and one with an expanded mutation (CGG repeats >200). All women were assessed using the MMPI‐2, the SADS‐L, and a battery of neuropsychological tests.Full mutation women had lower scores on composite measures of executive function and nonverbal function. There was no difference between the groups in terms of the lifetime incidence of depressive and anxiety disorders on the SADS‐L. Full mutation women displayed Lie scales higher than the other groups on the MMPI‐2. Neurocognitive measures were not related to SADS‐L diagnoses but were related to the Lie scale on the MMPI‐2. Finally, number of CGG repeats was related to the neuropsychological variables and the Lie scale.
Distribution of FMR‐1 and associated microsatellite alleles in a normal Chinese population
Authors: Zhong Nan , Liu Xixian , Gou Shen , Houck George E. , Li Shuyun , Dobkin Carl , Brown W. Ted 
Published: June 2005

AbstractThe CGG repeat size distribution of the fragile X mental retardation gene (FMR‐1) was studied in a population of normal Chinese X chromosomes along with that of two proximal microsatellite polymorphic markers: FRAXAC1 and DXS548. The most common CGG repeat allele was 29 (47.2%) with 30 being second most common (26%). This distribution was different from that seen in Caucasian controls, where the most common allele was 30 repeats. Other differences with Caucasian controls included a secondary modal peak at 36 repeats and the absence of peaks at 20 or 23 repeats. There were only two FRAXAC1 and five DXS548 alleles found in the Chinese sample. A striking linkage disequilibrium of FMR‐1 alleles with FRAXAC1 alleles was observed, in that 90% of the 29 CGG repeat alleles but only 41% of the 30 CGG repeat alleles had the FRAXAC1 152 bp allele (18 AC repeats). This disequilibrium suggests that slippage between the closely spaced normal CGG repeat alleles, 29 and 30, and between 152 and 154 FRAXAC1 alleles is very rare. This study lays the groundwork for an understanding of founder chromosome effects in comparing Asian and Caucasian populations. © 1994 Wiley‐Liss, Inc.
DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR‐1 gene
Authors: van den Ouweland Ans M. W. , de Vries Bert B. A. , Bakker P. Lida G. , Deelen Wout H. , de Graaff Esther , van Hemel Jan O. , Oostra Ben A. , Niermeijer Martinus F. , Halley Dicky J. J. 
Published: June 2005

AbstractThe cloning of the FMR‐1 gene and the identification of an expanded CGG repeat in DNA of fragile X patients has made reliable DNA diagnosis feasible. Southern blotting and PCR assays of the CGG repeat in an unselected series of 236 mentally retarded subjects resulted in the identification of 10 new fragile X families. Reevaluation of previously assessed fragile X families resulted in the first observation of the presence of a reversal of mutation in the FMR‐1 gene. © 1994 Wiley‐Liss, Inc.
Non‐specific X‐linked mental retardation: Linkage analysis in MRX2 and MRX4 families revisited
Authors: Hu Ling‐Jia , Blumenfeld‐Heyberger Sandra , Hanauer André , Weissenbach Jean , Mandel Jean‐Louis 
Published: June 2005

AbstractWe have previously reported linkage analysis in 3 families with non‐specific X‐linked mental retardation (XLMR). This used RFLPs and was limited by the relatively low informativeness and density of markers available. We have performed a new linkage analysis using microsatellites (including new Genethon markers) in the two most informative families. In the MRX2 family, a lod score of 2.61 at θ = 0.05 had previously been obtained with DXS85 in Xp22.2. We now report a tighter linkage with AFM 135xe7 (DXS989, z = 4.62 at θ = 0.00) and established the order DXS85‐DXS207‐DXS999 (AFM234yf12)‐MRX2, DXS365, DXS1052 (AFM 163yh2), DXS989‐DXS1065 (AFM224zf2), DMD 3′. The localization of MRX2 in Xp22.2‐p22.1 is thus clearly different from the more distal MRX gene defined by patients with contiguous gene syndromes. In the MRX4 family, a maximum lod score of 2.53 at θ = 0.00 had been obtained with DXS159 in Xq13. Our present study did not show recombination from ALAS2 in Xp11.21 to DXS441 in Xq13.3 (z = 3.38 at θ = 0.00 for the latter marker) and the closest flanking markers are DXS255 in Xp11.22 and DXYS1 in Xq21.3. Reduced recombination around the centromere prevents precise mapping. The localisation of MRX4 overlaps with that of several other MRX families. © 1994 Wiley‐Liss, Inc.
X‐linked mental retardation with heterozygous expression and macrocephaly: Pericentromeric gene localization
Authors: Turner G. , Gedeon A. , Mulley J. 
Published: June 2005

AbstractA family is described with X‐linked mental retardation (XLMR) with affected males in 2 generations. The manifestations are macrocephaly and heterozygous expression. Linkage analysis gives a 2‐point lod score of 3.31 (θ = 0.0) at the AR, DXS991, and MAOB marker loci. The gene is localized by recombination events between DXS1068 (Xp) and DXS1125 (Xq). This condition in this family may be similar to that described by Atkin et al., 1985 (Am J Med Genet 21:697–705).
X‐linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: Report of a second family
Authors: Lungarotti M. Serena , Martello Cecilia , Barboni Giancarlo , Mezzetti Daniele , Mariotti Giacomo , Calabro Anna 
Published: June 2005

AbstractWe report on 2 patients with mental retardation and bullous dystrophy, macular type. The observation of the condition in a male and his maternal uncle is consistent with recessive X‐linkage. Due to the rarity of the condition, nosologic definition was difficult before the birth of the propositus. The clinical picture in the two patients described, characterized by mental retardation, dwarfism, microcephaly, alopecia, bullous dystrophy macular type, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date. The recent localization of the bullous dystrophy gene in the Xq24‐qter segment opens the possibility of prenatal diagnosis. © 1994 Wiley‐Liss, Inc.
Marked female predilection in some syndromes associated with facial hemangiomas
Authors: Gorlin Robert J. , Kantaputra Piranit , Aughton David J. , Mulliken John B. 
Published: June 2005

AbstractAnalysis of the literature yielded 42 examples of the combination of sternal non‐union and supraumbilical raphé without evidence of sex predilection. However, among an additional 31 cases in which the triad included facial hemangioma, there was almost exclusive female occurrence.Another condition involves extensive unilateral hemangioma of the face, absence of ipsilateral carotid and vertebral vessels, mental retardation, and Dandy‐Walker malformation. Still another disorder has been proposed which includes facial hemangioma and dilatation of the carotid syphon. Both of these conditions exhibit marked female predilection.Examples of overlap of all three “disorders” cause the authors to question the independence of these disorders, hypothesizing instead that they represent a spectrum. © 1994 Wiley‐Liss, Inc.
Diamniotic placentation associated with omphalopagus conjoined twins: Implications for a contemporary model of conjoined twinning
Authors: Kapur Raj P. , Jack Rhona M. , Siebert Joseph R. 
Published: June 2005

AbstractWe have studied omphalopagus conjoined twins with a diamniotic monochorionic placenta. Although conjoined twins usually present in a single amniotic sac, one other example of diamniotic placenta has been reported in omphalopagus twins [Weston et al., 1990: Am J Med Genet 37:558–561]. Most theories concerning the pathogenesis of conjoined twinning exclude the possibility of diamniotic placentation. However, Spencer [1992: Teratology 45:591–602] recently elaborated a model for conjoined twinning based on duplication of organizing centers (primitive streaks) during gastrulation. We have considered the fate of embryonic membranes according to this model of omphalopagus twinning and show that diamniotic placentation is a predictable outcome. © 1994 Wiley‐Liss, Inc.
DK‐phocomelia syndrome in a child with a long follow‐up
Authors: Urioste Miguel , Paisán Luis , Martínez‐Frías María Luisa 
Published: June 2005

AbstractWe report on an 8‐year‐old boy with a pattern of multiple congenital anomalies that strongly suggest DK‐phocomelia syndrome. Birth findings included bilateral upper limb amelia, occipital encephalocele, agenesis of the corpus callosum, right auricular tag, scoliosis, small penis, and cryptorchidism. Dental malocclusion was observed in the follow‐up. This is the first case with on 8‐year follow‐up report of DK‐phocomelia syndrome. © 1994 Wiley‐Liss, Inc.
Six additional cases of the KBG syndrome: Clinical reports and outline of the diagnostic criteria
Authors: Zollino M. , Battaglia A. , D'Avanzo M. G. , Bruna M. M. Della , Marini R. , Scarano G. , Cappa M. , Neri G. 
Published: June 2005

AbstractA diagnosis of KBG syndrome was made in six unrelated patients. They presented with slight mental retardation, macrodontia, and skeletal abnormalities. Microcephaly, short stature, facial anomalies, and syndactylies were also noted. The diagnostic criteria of the KBG syndrome are discussed. © 1994 Wiley‐Liss, Inc.
Familial Dandy‐Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: Prenatal diagnosis and postnatal outcome in brothers. A new syndrome?
Authors: Chitayat David , Moore Lori , Del Bigio Marc R. , MacGregor Daune , Ben‐Zeev Bruria , Hodgkinson Kathy , Deck John , Stothers Tammy , Ritchie Susan , Toi Ants 
Published: June 2005

AbstractBrothers are reported with an apparently new constellation of manifestations including Dandy‐Walker complex (DWC), migrational brain disorder, macrocephaly, and facial anomalies. The first brother presented at birth, the second was detected prenatally with DWC and the pregnancy terminated. Fetal brain histopathology showed DWC associated with brainstem dysgenesis. Inheritance is likely autosomal or X‐linked recessive. An extensive review of the differential diagnosis of DWC is provided. © 1994 Wiley‐Liss, Inc.
Fetal t(5p;21q) misdiagnosed as monosomy 21: A plea for in situ hybridization studies
Authors: Gill Prabhcharan , Uhrich Stefanie , Disteche Christine , Cheng Edith 
Published: June 2005

AbstractWe report a case of 45,XY,−5,−21,+der (5) t(5;21) (p13 or p14;q11.2 or q21) that was prenatally misdiagnosed as complete monosomy 21 and terminated at 24 weeks of gestation. Subsequent fluorescence in situ hybridization studies with a chromosome 21 painting probe documented the cryptic unbalanced translocation. © 1994 Wiley‐Liss, Inc.
New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto‐axial instability
Authors: Reardon W. , Hall C. M. , Shaw D. G. , Kendall B. , Hayward R. , Winter R. M. 
Published: June 2005

AbstractWe present a family with a radiologically distinct new form of autosomal dominant spondyloepiphyseal dysplasia, presenting with cervical instability and attendant neurological compromise and emphasise the radiological characteristics which delineate this condition. Cervical vertebral abnormalities, including malformation of the odontoid process, have been observed in some forms of spondyloepiphyseal dysplasia, but rarely lead to neurological sequelae, in contrast to the pedigree we describe. © 1994 Wiley‐Liss, Inc.
Velo‐cardio‐facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region
Authors: Nickel Robert E. , Pillers De‐Ann M. , Merkens Mark , Magenis R. Ellen , Driscoll Deborah A. , Emanuel Beverly S. , Zonana Jonathan 
Published: June 2005

AbstractApproximately 5% of children with neural tube defects (NTDs) have a congenital heart defect and/or cleft lip and palate. The cause of isolated meningomyelocele, congenital heart defects, or cleft lip and palate has been largely thought to be multifactorial. However, chromosomal, teratogenic, and single gene causes of combinations of NTDs with congenital heart defects and/or cleft lip and palate have been reported. We report on 3 patients with meningomyelocele, congenital heart defects, and 22q11 deletions. Two of the children had the clinical diagnosis of velo‐cardio‐facial syndrome (VCFS); both also have bifid uvula. The third child had DiGeorge sequence (DGS).The association of NTDs with 22q11 deletions has not been reported previously. An accurate diagnosis of the 22q11 deletions is critical as this micro‐deletion and its associated clinical problems is transmitted as an autosomal dominant trait due to the inheritance of the deletion‐bearing chromosome. We recommend that all children with NTDs and congenital heart defects, with or without cleft palate, have cytogenetic and molecular studies performed to detect 22q11 deletions. © 1994 Wiley‐Liss, Inc.