bluuebunny/crossref_metadata_2025_split huggingface dataset:
Schinzel‐Giedion syndrome: Report of two sibs
Authors: Antich J. , Manzanares R. , Camarasa F. , Krauel X. , Vila J. , Cusi V. 
Published: June 2005

AbstractWe report on two further cases, a sister and a brother, with Schinzel‐Giedion syndrome. Both presented the following manifestations: “coarse face” with midface retraction, agenesis of corpus callosum, bilateral hydronephrosis, and typical skeletal anomalies. Patient 1 had a malignant sacrococcygeal teratoma. This is the third case of malignancy in this syndrome. Patient 2 died shortly after birth. © 1995 Wiley‐Liss, Inc.
Opitz GBBB syndrome: Chromosomal evidence of an X‐linked form
Authors: Verloes Alain , David Albert , Odent Sylvie , Toutain Annick , André Marie‐Joseph , Lucas Josette , Marec Bernard Le 
Published: June 2005

AbstractBBB syndrome and G syndrome were originally reported as distinct X‐linked disorders. Clinical studies indicated that BBB and G syndromes were likely to represent variant expression of the same disorder, now referred to as “Optiz” GBBB syndrome. Several occurrences of male‐to‐male transmission in both syndromes led to the hypothesis that GBBB syndrome was a single autosomal dominant, sec influenced disorder, now tentatively mapped to 5p12‐13.We report on a large pedigree in which GBBB syndrome appears to cosegregate with a pericentric inversion of the X chromosome inv(X)(p22.3q26). It indicates the possible existence of a true X‐linked form of GBBB syndrome, which does not appear phenotypically different from its autosomal counterpart. The gene could map in the vicinity of the breakpoints, in Xp or Xq. The existence of two genes affecting a common pathogenetic pathway could explain the gender‐dependent expressivity of GBBB phenotype. © 1995 Wiley‐Liss, Inc.
Spondyloperipheral dysplasia
Authors: Sorge G. , Ruggieri M. , Lachman R. S. 
Published: June 2005

AbstractWe present a patient with spondyloperipheral dysplasia, a rare skeletal dysplasia which is characterized by vertebral body abnormalities (platyspondyly, end‐plate indentations) and brachydactyly. Our patient also manifested a characteristic “pugilistic” face, sensorineural deafness and mental retardation. This chondroosseous dysplasia appears to be inherited as an autosomal dominant disorder. It appears that there is considerable clinical variability in spondyloperipheral dysplasia. © 1995 Wiley‐Liss, Inc.
Phenotypic differences among patients with Bardet‐Biedl syndrome linked to three different chromosome loci
Authors: Carmi Rivka , Elbedour Khalil , Stone Edwin M. , Sheffield Val C. 
Published: June 2005

AbstractBardet‐Biedl syndrome (BBS) is an autosomal‐recessive disorder of mental retardation, obesity, retinal dystrophy, polydactyly, and hypogenitalism. Renal and cardiac abnormalities are also frequent in this disorder. Previous clinical suggestions of heterogeneity of BBS were confirmed recently by the identification of four different chromosome loci linked to the disease. In this study we compared clinical manifestations of the syndrome in patients from 3 unrelated, extended Arab‐Bedouin kindreds which were used for the linkage mapping of the BBS loci to chromosomes 3, 15, and 16. The observed differences included the limb distribution of the postaxial polydactyly and the extent and age‐association of obesity. It appears that the chromosome 3 locus is associated with polydactyly of all four limbs, while polydactyly of the chromosome 15 type is mostly confined to the hands. On the other hand, the chromosome 15 type is associated with early‐onset morbid obesity, while the chromosome 16 type appears to present the “leanest” form of BBS. Future cloning of the various BB genes will contribute to the understanding of the molecular basis of limb development and to the identification of human obesity‐related genes. © 1995 Wiley‐Liss, Inc.
Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies
Authors: Schimmenti Lisa A. , Pierpont Mary Ella , Carpenter Becky L. M. , Kashtan Clifford E. , Johnson Max R. , Dobyns William B. 
Published: June 2005

AbstractWe describe a father and 3 sons with optic nerve colobomas, vesicoureteral reflux, and renal anomalies. The youngest son had congenital renal failure and ultimately underwent renal transplantation. The father and one son had high frequency hearing loss. There were no other affected relatives. We conclude that the association of optic nerve colobomas, renal anomalies, and vesicoureteral reflux comprises a unique autosomal dominant syndrome. Molecular investigations have determined this disorder to be associated with a single nucleotide deletion in the PAX2 gene. © 1995 Wiley‐Liss, Inc.
Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate
Authors: Korula Shirley , Wilson Libby , Salomonson Janet 
Published: June 2005

AbstractWe report on several individuals with bilateral cleft lip and palate, lagophthalmia, megaloblepharon, distichiasis, and ectropion of the lower eyelids, representing in total a distinct craniofacial syndrome. Eight cases (3 from 1 family) in ages ranging from 1–45 years were identified over a 7‐year period in the Cleft Palate and Craniofacial Clinic at our center. All cases (3 male, 5 female) presented with bilateral cleft lip and palate and lagophthalmia. Birth weight, growth, and development were normal in all cases, except for one who probably has familial small stature. Five of the 8 cases have distichiasis, and 5 have ectropion in varying degrees; dental findings consisted of hypodontia in 5 and delayed dentition in 1 patient. Hypoplastic nails and clinodactyly were confined to 3 members of 1 family. Clinical evidence in these cases and a review of the literature regarding distichiasis and lagophthalmia, either alone or in combination with ectropion, suggest that this craniofacial syndrome is most likely an autosomal‐dominant trait. The 5 non‐familial cases probably represent new mutations. © 1995 Wiley‐Liss, Inc.
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): Clinical and radiological findings in a guatemalan patient
Authors: Bradburn Joyce M. , Hall Bryan D. 
Published: June 2005

AbstractWe report on a patient of Guatemalan descent whose physical and radiological findings are consistent with a diagnosis of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL). This is a rare, autosomal recessive skeletal dysplasia with short limbs, severe scoliosis, high dorsal kyphoscoliosis, and joint hypermobility. Most described patients with SEMDJL are from the Afrikaans‐speaking communities of South Africa. Patients with SEMDJL have an oval face, prominent eyes, and blue sclerae. Our patient's height and weight were below the fifth centile. She had prominent eyes with blue sclerae, a narrow, high‐arched palate, pectus carinatum, severe scoliosis, and hyperextensibility and instability of most joint, with limited extension and supination of her elbows. A review of her roentgenograms showed severe scoliosis, poorly developed ischial, iliac, and pubic bones, a “bat‐like” appearance of the iliac bones, “dysplastic” acetabulum, minimal metaphyseal and epiphyseal abnormalities at the knees, deformation of the proximal femoral metaphyses, and generalized brachydactyly of the hands and feet. This disorder may be more common than previously thought, and the diagnosis should be considered in any child with a dwarfing considered in any child with a dwarfing condition and joint laxity. © 1995 Wiley‐Liss, Inc.
Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of lowe
Authors: Kenworthy Lauren , Charnas Lawrence 
Published: June 2005

AbstractThe oculocerebrorenal syndrome of Lowe (OCRL) is an X‐linked disorder characterized by congenital cataracts, cognitive impairment, and renal tubular dysfunction. Although there is a wide range of intellectual function in affected individuals, it is often compromised by a high prevalence of maladaptive behaviors, including tantrums, stubbornness, and stereotypy. Whether these behaviors simply reflect the multiple disabilities found in some developmentally impaired individuals with or without OCRL, or a specific genetically‐determined behavioral phenotype of OCRL, is unknown. Controls were matched for sex, age, visual impairment, and adaptive functioning and compared with OCRL patients on three standardized measures of adaptive/maladaptive behaviors. Forty‐three matched pairs of OCRL and control subjects were identified. Both groups were similar in communication, daily living, socialization, and motor skills, in socioeconomic status, and in measures of parental stress. Individuals with OCRL displayed significantly more severe maladaptive behaviors than control boys, as measured by the Vineland Adaptive Behavior Scales (VABS), with 41% of the difference between the two groups attributable to the diagnosis of OCRL. Twelve maladaptive behaviors measured on the VABS appeared more frequently in OCRL than in controls. Five of these 12 behaviors, i.e., temper tantrums, irritability, complex repetitive behaviors (stereotypy)/mannerisms, obsessions/unusual preoccupations, and negativism, were identified by discriminant function analysis to significantly distinguish between controls and OCRL individuals. The diagnosis of OCRL is associated with a behavioral phenotype consisting of temper tantrums, stereotypy, stubbornness, and obsessions/unusual preoccupations. This phenotype cannot be attributed solely to the visual, motor, and intellectual disabilities characteristic of OCRL, and may represent a specific effect of the OCRL gene on the central nervous system. © 1995 Wiley‐Liss, Inc.This article is a U.S. Government work and, as such, is in the public domain in the United States of America.
FH Tulsa‐1 and ‐2: Two unique alleles for familial hypercholesterolemia presenting in an affected two‐year‐old African‐American male
Authors: Blackett Piers R. , Altmiller Dale H. , Jelley David , Wilson Don P. 
Published: June 2005

AbstractA two‐year‐old African American boy presented with cutaneous xanthomata and extreme hypercholesterolemia. Subsequent studies revealed that the LDL‐cholesterol was 1,001 mg/dl and apoB 507 mg/dl. LDL‐receptor activity was almost undetectable, which is compatible with the finding of two newly described defective alleles on exon 4 of the LDL‐receptor gene coding for part of the ligand‐binding domain. One allele contained a 21 base‐pair insertion from codon 200 to 207 whereas the other had a point mutation at codon 207. The rarity of genes for FH reported in individuals of African ancestry is discussed. © 1995 Wiley‐Liss, Inc.
Prenatal diagnosis of familial dysautonomia by analysis of linked CA‐repeat polymorphisms on chromosome 9q31–q33
Authors: Eng Christine M. , Slaugenhaupt Susan A. , Blumenfeld Anat , Axelrod Felicia B. , Gusella James F. , Desnick Robert J. 
Published: June 2005

AbstractFamilial Dysautonomia (FD) is an autosomal recessive sensory neuropathy that affects about 1 in 3,700 individuals of Ashkenazi Jewish ancestry. The underlying biochemical and genetic defects are unknown, thereby precluding prenatal diagnosis in at‐risk families. Recently, the FD gene (DYS) was mapped with strong linkage disequilibrium to polymorphic markers in the chromosome 9 region q31–q33. In this report, the use of these markers for the prenatal diagnosis of FD by linkage analysis in families with a previously affected child was evaluated. Genomic DNA from appropriate family members was analyzed to construct haplotypes using informative CA repeat polymorphisms closely linked to and flanking the FD locus. The calculation of risk for the prenatal diagnoses was performed by linkage analysis. All seven FD families were informative for the closely linked polymorphic markers and fetal diagnoses were made in eight pregnancies. Six fetal diagnoses were predicted with >98% accuracy, while two with recombinations were predicted with at least 88% and 92% accuracy. Use of these closely linked markers permitted the reliable prenatal diagnosis of FD in families with a previously affected child. © 1995 Wiley‐Liss, Inc.
Factors which influence the rate of receiving a routine second newborn screening test in Washington State
Authors: Doyle Debra L. , Sanderson Maureen , Bentvelzen Johanneke , Fineman Robert M. 
Published: June 2005

AbstractThis study was conducted to determine whether newborns from different ethnic and socioeconomic groups in Washington State are equally likely to have a routine second newborn screening (NBS) test and if there are identifiable factors associated with not having a second test. For many years, the standard of care for NBS in Washington has been that newborns should receive a routine second screening test at age 7–10 days. However, data collected by State Department of Health (DOH) staff for the past several years indicate that only about 80% of newborns receive a routine second NBS test. The data presented here suggest that identifiable factors (i.e., barriers) exist in accessing a routine second NBS test in Washington. Increased educational efforts targeting certain high‐risk infants, their parents/caretakers, and primary care providers are apparently needed to ensure equal access to a routine second test. © 1995 Wiley‐Liss, Inc.
Dissemination of genetic risk information to relatives in the fragile X syndrome: Guidelines for genetic counselors
Authors: McConkie‐Rosell A. , Robinson H. , Wake S. , Staley L. W. , Heller K. , Cronister A. 
Published: June 2005

AbstractFragile X syndrome, which affects 1 in 1,250 males, is the most common inherited condition causing mental retardation. Although carrier detection for the fragile X syndrome utilizing DNA has now been simplified, genetic counseling and the process of informing at‐risk family members remains complex. The purpose of this paper is to offer practical guidelins to health professionals providing genetic counseling to fragile X families in order to facilitate the dissemination of genetic risk information to relatives. This paper was developed from a workshop held at the 4th International Fragile X Conference. The guidelines presented here represent a beginning in the development of an approach to informing relatives in fragile X familes about genetic risk, and the identification of mechanisms to reduce the burden to families. © 1995 Wiley‐Liss, Inc.
Infant with mos45,X/46,XY/47,XYY/48,XYYY: Genetic and clinical findings
Authors: Fox Joyce E. , Blumenthal Donna , Brock William , Kreitzer Paula , Cooper Rubin , Anderson Dennis , Pleak Richard , Ehrenfreund Linda , Freedman Samuel , Zaslav Ann‐Leslie 
Published: June 2005

AbstractWe describe an infant with mos45,X/46,XY/47,XYY/48,XYYY who presented with ambiguous genitalia. Her phenotype was also remarkable for minor ear and eye anomalies and coarctation of the aorta with bicuspid aortic valve. Laparoscopy revealed bilateral Fallopian tubes and a left infantile testis with epididymis. Chromosomal analyses of blood, skin, aorta, right Fallopian tube, and left gonadal tissue showed mos45,X/46,XY/47,XYY/48,XYYY. The 46,XY cell line was identified with routine trypsin‐Giemsa banding only in cultured cells from an aortic biopsy. Fluorescence in‐situ hybridization (FISH) was utilized to identify the presence of 46,XY cells in other tissues. The clinical manifestations of this patient are discussed and compared with those of similar cases of Y chromosome aneuploidy. To our knowledge, this is the first report of a patient with this unusual karyotype. © 1995 Wiley‐Liss, Inc.
Benzoate therapy and carnitine deficiency in non‐ketotic hyperglycinemia
Authors: Van Hove Johan L. K. , Kishnani Priya , Muenzer Joseph , Wenstrup Richard J. , Summar Marshall L. , Brummond Michael R. , Lachiewicz Ave M. , Millington David S. , Kahler Stephen G. 
Published: June 2005

AbstractFive patients presenting with non‐ketotic hyperglycinemia in the neonatal period were treated with sodium benzoate to normalize plasma glycine levels. This therapy resulted in seizure reduction and a marked increase in wakefulness. Plasma carnitine deficiency was noted in three of four patients tested, and benzoylcarnitine was identified in plasma, urine, and CSF. Treatment with L‐carnitine normalized plasma free carnitine. L‐carnitine showed a tendency to increase the glycine conjugation of benzoate. An episode of coma and increased seizures in one patient was associated with a toxic level of benzoate, probably due to insufficient mobilization of glycine for conjugation. High dose benzoate therapy improved the quality of life of surviving patients. Close monitoring of glycine, benzoate and carnitine levels is advised. © 1995 Wiley‐Liss, Inc.
Crossover analysis in a British family suggests that Coffin‐Lowry syndrome maps to a 3.4‐cM interval in Xp22
Authors: Bird Helen , Collins Amanda L. , Oley Christine , Lindsay Susan 
Published: June 2005

AbstractCoffin‐Lowry syndrome (CLS; MIM 303600) is an uncommon X‐linked disorder causing mental retardation and skeletal abnormalities. Most recently it was mapped to a 5.6‐centimorgan (cM) region of Xp22, flanked distally by AFM291 wf5 and proximally by DXS1052 [Biancalana et al., 1994: Genomics 22:617–625]. We present information which supports this localization and further narrows the region to approximately 3.4 cM. A recombination in a carrier from a British family means that DXS365 is the closest proximal flanking marker identified to date for the region thought to contain the CLS gene. This information reduces the region of interest by approximately 2.2 cM, a significant decrease in terms of the scale of effort which will be required to isolate and analyze candidate genes. © 1995 Wiley‐Liss, Inc.
Deletion of the entire NF1 gene detected by FISH: Four deletion patients associated with severe manifestations
Authors: Wu Bai‐Lin , Austin Michele A. , Schneider Gretchen H. , Boles Richard G. , Korf Bruce R. 
Published: June 2005

AbstractGenetic analysis of NF1 has indicated a wide diversity of mutations, including chromosome rearrangements, deletions, insertions, duplications, and point mutations. Recently, five severely affected individuals have been found by Kayes et al. [1994] to have deletions encompassing the entire gene. These deletions were detected by quantitative Southern analysis. To simplify deletion detection, we have employed fluorescence in situ hybridization (FISH) using intragenic probes. Thirteen unrelated individuals with NF1 have been studied. Among six with severe manifestations, four have been found to have deletions detected by probes cFF13, cFB5D, cP5, yA43A9, yA113D7 and yD8F4. All four deletion patients have severe developmental delay, minor and major anomalies (including one with bilateral iris colobomas), and multiple cutaneous neurofibromas or plexiform neurofibromas which were present before age 5 years. FISH provides a simple and rapid means of identification of NF1 gene deletions and will allow more rigorous testing of the hypothesis that such deletions are associated with severe manifestations. © 1995 Wiley‐Liss, Inc.
Evidence that the APOE locus influences rate of disease progression in late onset familial Alzheimer's Disease but is not causative
Authors: Bennett Craig , Crawford Fiona , Osborne Aaron , Diaz Patricia , Hoyne Jonathan , Lopez Robert , Roques Penelope , Duara Ranjan , Rossor Martin , Mullan Mike 
Published: June 2005

AbstractAn association has been observed in several independent data sets between late onset Alzheimer's Disease (AD) and the APOE locus on chromosome 19. We have examined the genotype in family history positive (FHP) and family history negative (FHN) cases and find a distortion of the APOE allele frequencies in accord with previous studies. However, when we examined the allele distribution of the at‐risk siblings of the FHP group we found an excess of the ϵ4 allele which also differs significantly from historic controls but not from the affected siblings. The age distribution of the affected and unaffected siblings was similar, suggesting that the allelic frequency distortion in the unaffected siblings was not due to their being below the mean age of onset. Lod score linkage analysis, with age dependent onset and non‐stringent specification of the genetic parameters, did not suggest linkage to the APOE locus. Furthermore, an analysis of variance of the age of disease free survival suggested that APOE genotype contributes a small fraction of the total variance indicating that the APOE locus is a poor predictor of disease free survival age within late onset families. One explanation for the age dependent association reported by other groups, and our results, is that the APOE locus enhances the rate of progression of the disease process in otherwise predisposed individuals and that variation at this locus is not able in and of itself to cause the disease. We suggest this hypothesis is compatible with the current literature regarding APOE and AD. © 1995 Wiley‐Liss, Inc.
Autism, affective disorders, and social phobia
Authors: Smalley Susan L. , McCracken James , Tanguay Peter 
Published: June 2005

AbstractThe purpose of this study is to test the hypothesis that major affective and/or anxiety disorders are increased among relatives of autistic probands compared with controls. Among 36 families with an autistic child, 23 (64%) have a first degree relative diagnosed with major depressive disorder and 14 (39%) have a first degree relative diagnosed with social phobia. These rates are significantly greater than the 19% and 5%, respectively, found among 21 families with a child having a genetic condition, tuberous sclerosis complex, or a seizure disorder but no autism. The frequency of major depression among the 96 first degree relatives of autistic probands is 37.5% compared with 11.1% found among 45 relatives of control probands. The frequency of social phobia, 20.2%, is approximately 10 times more common than that found among the relatives of the control probands (2.4%). Elevated rates of both major depression and social phobia are found among parents and siblings in the families with an autistic child. Furthermore, 64% of parents affected with a major depression had the onset of the first depressive episode prior to the birth of the autistic child and all parents with social phobia had the onset of condition prior to the birth of the autistic child.Family patterns differ depending on the intellectual level of the autistic child; specifically, social phobia is significantly greater among the first degree relatives of nonretarded autistic probands than among relatives of individuals with autism and comorbid mental retardation. Whether this familial association of autism, major mood disorders, and social phobia reflects shared genetic underpinnings requires further research. © 1995 Wiley‐Liss, Inc.
Word‐finding difficulties, verbal paraphasias, and verbal dyspraxia in ten individuals with fragile x syndrome
Authors: Spinelli Mauro , Rocha Ana Clelia De Oliveira , Giacheti Celia Maria , Richieri‐Costa A. 
Published: June 2005

AbstractSpeech/language disorders are common in the fragile X syndrome. [Howard‐Peebles, 1979: Am J Hom Genet 31:214–222; Renier et al., 1983: J Ment Defic Res 27:51–59; Sparks, 1984: Birth Defects and Speech‐Language Disorders, pp. 39–43; Hanson et al., 1986: Am J Med Genet 23:195–206]. Verbal paraphasias have been considered a rare feature and word‐finding difficulties have seldom been reported. Here we report on ten Brazilian patients who were evaluated for speech/language disturbances and found that word‐finding difficulties were present in 50% of the cases, which is a slightly higher frequency than that of clear dyspraxia. We suggest, therefore, that word‐finding difficulties and verbal dyspraxia can be a common feature within the spectrum of this syndrome. Additional speech findings are discussed. © 1995 Wiley‐Liss, Inc.