bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cord blood study on β‐thalassemia and hemoglobin E
Authors: Pootrakul Sa‐Nga , Muang‐sup Vanna , Fucharoen Suthat , Wasi Prawase , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe hematologic data from 18 newborn infants including follow‐up data. Of these, ten were the offspring of patients with β‐thal/Hb E disease and the remainder were infants who were found to have a decrease in red cell osmotic fragility during a random cord blood examination. The results of the cord blood study showed that two infants having normal red cell osmotic fragility with about 2% Hb E + Hb A + Hb F at birth represented Hb E heterozygosity. Eleven babies had slightly decreased red cell osmotic fragility, a mild degree of microcytosis and poikilocytosis, and hemoglobin types of Hb A + Hb F with no elevation of Hb A2 at birth. They subsequently had hematologic findings consistent with the β‐thal heterozygosity. The means of hematological values of cord blood in the β‐thal trait infants appeared to be statistically different from those in the normal infants only with respect to increased red cell count and reduced MCH. One infant was thought to have the β‐thal trait but had a greater degree of thalassemic changes in red cells; subsequently he turned out to have homozygous β‐thalassemia. Four newborn infants with hypochromia and numerous target cells had 4‐7% Hb E + Hb F without Hb A. Follow‐up examination showed two cases of Hb E homozygosity; however, the others, who had obvious microcytosis and poikilocytosis in cord blood, finally developed β‐thal/Hb E disease. Thus, a careful study on red cell osmotic fragility, morphology and starch gel electrophoresis at birth allows detection and diagnosis of β‐ thal heterozygosity, β‐thal homozygosity, Hb E heterozygosity, Hb E homozygosity and double heterozygosity for β‐thal and Hb E.
A syndrome of multiple congenital contractures: Neuropathlogical analysis on five fetal cases
Authors: Herva R. , Conradi N. G. , Kalimo H. , Leisti J. , Sourander P. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe performed a neuropathological study on 5 fetuses with an autosomal recessive, lethal syndrome of congenital contractures diagnosed by fetal hydrops on ultrasonography. The fetuses showed a typical pattern of malpositioning of hips and knees with occasional pterygia of the neck and elbows. The muscles were hypoplastic and the spinal cords showed severe thinning, most markedly affecting the ventral half. A total loss of axons in the ventral and lateral funiculi, subtotal loss of anterior horn motor neurons with accompanying astrocytosis and astrogliosis, and similar but less severe changes at the brain stem level suggested a degenerative rather than a dysmorphogenetic mechanism. Sensory nuclei and pathways were distinctly less severely affcted, if at all. The findings further delineate this condition as a genetically and patho‐anatomically distinct autosomal recessive syndrome.
Three cases of untreated classical PKU: A report on cataracts and brain calcification
Authors: Kawashima H. , Kawano M. , Masaki A. , Sato T. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractThere are only four previous reports of cataracts in untreated classical phenylketonuria (PKU) patients. Brain calcification, which has been known to occur in patients with dihydropteridine reductase (DHPR) deficiency, has been reported, as far as we know, in only one (albeit unusual) case. We report on three patients with untreated classical PKU; all have cataracts and normal serum levels of glucose and galactose. One of the patients (whose endocrinological tests and biochemistry including folate were normal) has bilateral brain calcifications remarkably similar to that seen in DHPR deficiency. To what extent cataracts and brain calcification occur with classical PKU is unknown because of the lack of case reports addressing these symptoms. Our cases combined with previous reports call attention to the fact that they may be frequently overlooked manifestations of classical PKU.
Isolated familial adrenocorticotropin deficiency: Prenatal diagnosis by maternal plasma estriol assay
Authors: Malpuech Georges , Vanlieferinghen Philippe , Dechelotte Pierre , Gaulme Jacqueline , Labbé André , Guiot Florence , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a brother and sister with adrenal insufficiency due to isolated adrenocorticotropin hormone deficiency discovered in the neonatal period. The first‐born, a male infant, died; pathological findings suggested bilateral adrenal hypoplasia transmitted as an autosomal recessive trait. Plasma estriol levels were assayed during the mother's next pregnancy. The prenatal diagnosis allowed immediate and effective management of the second affected child. The supplementary evidence from the endocrine findings, unavailable on her brother, enabled us to make a diagnosis of isolated central ACTH deficiency. As the defect was found in infants of both sexes in the same family, it is in all likelihood transmitted as an autosomal recessive trait. We consider it important for genetic councelling to perform autopsies on all newborn infants whose death has no apparent cause. Maternal plasma estriol assays during pregnancy can help diagnose fetal adrenal insufficiency, whether the defect is central or adrenal.
Verification of the fetal valproate syndrome phenotype
Authors: Ardinger Holly H. , Atkin Joan F. , Blackston R. Dwain , Elsas Louis J. , Clarren Sterling K. , Livingstone Susan , Flannery David B. , Pellock John M. , Harrod Mary Jo , Lammer Edward J. , Majewski Frank , Schinzel Albert , Toriello Helga V. , Hanson James W. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have evaluated 19 children who were exposed to valproic acid (VPA) in utero to look for manifestations of a fetal valproate syndrome (FVS), as proposed by Di Liberti et al. [1984]. We found no consistent alterations of pre‐ or postnatal growth with exposure to VPA monotherapy. Postnatal growth deficiency and microcephaly were present however, in two thirds of children exposed to VPA in combination with other anticonvulsants. Developmental delay or neurologic abnormality was found in 71% of those exposed to VPA monotherapy, and in 90% of those exposed to VPA and other anticonvulsants. Craniofacial anomalies, which can be seen with other anticonvulsant exposures, including midface hypoplasia, short nose with a broad and / or flat bridge, epicanthal folds, minor abnormalities of the ear, philtrum or lip, and micrognathia were also found in infants whose mothers used VPA. Prominent metopic ridge and outer orbital ridge deficiency or bifrontal narrowing and certain major anomalies such as tracheomalacia, talipes equinovarus (with intact spine) and lumbosacral meningomyelocele seem to be peculiar to infants with VPA exposure. Other defects such as urogenital anomalies, inguinal or umbilical hernias, and minor digital anomalies that are common to other prenatal anticonvulsant exposures are also occasionally found in those exposed to VPA. Heart defects have been found in infants exposed to nearly every class of anticonvulsant although the types of defects associated with maternal VPA use may be clarified when classified by pathogenetic mechanism. Our findings overall are in agreement with the report of Di Liberti et al. [1984].
Reproductive risks for carriers of complex chromosome rearrangements: Analysis of 25 families
Authors: Gorski Jerome L. , Kistenmacher Mildred L. , Punnett Hope H. , Zackai Elaine H. , Emanuel Beverly S. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have determined the empirical reproductive risks for heterozygous carriers of complex chromosome rearrangements (CCRs). CCRs are structural rearrangements inolving at least three chromosomes and three or more chromosomal breakpoints. Pregnancy outcome, the frequency and type of chromosomal imbalance in the offspring, and the localization and distribution of chromosome breakpoints were analyzed in 25 CCR families ascertained by the birth of a malformed child or repeated spontaneous abortions. This study included two newly ascertained familial CCRs and a total of 67 informative pregnancies. Analysis of the data, after correction for ascertainment bias, showed that the incidence of spontaneous abortions in CCR families was 48.3%. Approximately one in ten pregnancies and 18.4% of all live births to CCR carriers resulted in phenotypically abnormal offspring. One‐half of all CCR carrier liveborn offspring were also CCR carriers. There was a 53.7% incidence of an abnormal pregnancy outcome to CCR carriers. We failed to detect any evidence for a non‐random involvement of specific chromosomes in CCRs. However, we did observe a non‐random distribution of specific breakpoints at sites 1q25, 4q13, 6q27, 7p14, 9q12, 11p11, 11p15, 12q21, 13q31, and 18q21.
Congenital heart defect in a patient with deletion of chromosome 7q
Authors: Tiller George E. , Watson Michael S. , Duncan Lyn M. , Dowton S. Bruce , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a premature male infant with a terminal deletion of 7q [del(7) (pter→q34:)]. Manifestations include low birth weight, hypertelorism, bilateral cleft lip and palate, cryptorchidism, and a complex congenital heart defect. The latter consisted of hypoplasia of the main pulmonary artery, absent pulmonary valve, ventricular septal defect, and anomalous right pulmonary artery.We briefly review the spectrum of heart defects seen with chromosome 7 deletions, and comment on the incidence of this unusual heart lesion.
Impact of first‐trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk. Experience with 1,000 cases
Authors: Sachs E. S. , Jahoda M. G. J. , Kleijer W. J. , Pijpers L. , Galjaard H. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe the results and follow‐up of chorionic villus studies in 1,034 pregnancies at risk for chromosome or metabolic disorders. Direct chromosome studies were successful in 99.7% and yielded results within a few days. Fifty pregnancies at risk for an unbalanced translocation, inherited from parents with many small reciprocal translocations, were a good test for the quality of the direct method.The 101 metabolic studies involving 28 disorders were correct in 99 pregnancies in the first trimester. In two cases a correct diagnosis was obtained by the confirmatory amniocentesis.DNA studies were carried out in pregnancies of male fetuses at risk for Duchenne muscular dystrophy and a few metabolic disorders.The abortion rate after chorionic villus sampling was 5.1 % but more than half of the pregnant women were ≥36 years old and have a spontaneous abortion rate of 10% between the 10th and 14th week according to Gustavii [Lancet 1:562, 1984]. Follow‐up studies confirmed results of all chromosome studies after termination when there was fetal cell growth; the outcome of 504 consecutive continuing pregnancies showed no discrepancies of the phenotype after birth.It was concluded that first‐trimester chorionic villi studies gave reliable results and were increasingly preferred by the patients, while the sampling can be considered a safe procedure based on the currently available data.
Hepatoblastoma, pigmented ocular fundus lesions and jaw lesions in gardner syndrome
Authors: Krush Anne J. , Traboulsi Elias I. , Offerhaus G. Johan A. , Maumenee Irene H. , Yardley John H. , Levin L. Stefan , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractHepatoblastoma is a rare neoplasm of infants and children only recently documented in association with hereditary adenomatous polyposis of the colon [Kingston et al., 1983]. We report four children with hepatoblastoma from four unrelated families with Gardner syndrome (GS). One child, now 19 years old, survived after a resection of a hepatoblastoma in infancy and recently was found to have GS. He has an associated odontoma and pigmented ocular fundus lesions, both of which have been shown to be clinical markers of GS. Many individuals in these four GS families, both affected and at risk, have osteomatous jaw lesions and pigmented ocular fundus lesions.A search for colonic polyps should be made in families of infants and children with hepatoblastoma. If the child survives, he or she should be monitored for the later appearance of colonic polyps. The finding of jaw lesions and/or pigmented ocular fundus lesions in relatives at risk are indications of the possible presence of the GS gene.
Multiple “marker” chromosomes: A novel cytogenetic finding in a patient with mental retardation and congenital anomalies
Authors: Tozzi C. , Calvieri F. , Alesi L. , Neri G. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractA patient with mental retardation and clinical manifestations suggestive of Noonan syndrome was found to have in her peripheral lymphocytes multiple small accessory marker chromosomes, varying in number from one to five per cell and in size from about half the size of the q arm of a G group chromosome to less than a centromere.Occasionally, in the more elongated markers, a G‐positive or a C‐positive band could be identified, or the marker had the appearance of a ring. The origin and significance of these marker chromosomes are discussed.
Relation between height and clinical course in Duchenne muscular dystrophy
Authors: Zatz Mayana , Rapaport Debora , Vainzof Mariz , Rocha Jane M. L. , de Cássia M. Pavanello Rita , Colletto Gloria M. D. D. , Peres Clovis A. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have evaluated the relation between height and rate of clinical progression in boys with Duchenne muscular dystrophy (DMD). In all. 111 DMD patients with age ranging from 2 to 23 years (mean 8.2 ± 3.4 years) were assessed; of these patients, 92 had their height measured. Clinical course was determined through Vignos scale of functional disability, motor ability, and timed functional tests. All patients had grossly elevated serum creatine‐kinase (CK) and pyruvate‐kinase (PK) levels. When height was adjusted for patients' age, a statistically significant correlation was found between height and clinical course (positive with Vignos scale and negative with motor ability), suggesting that smaller boys have a better clinical course than taller patients of comparable age. These results support our previous hypothesis and suggest that growth inhibition seems to be effective in diminishing the progression of DMD.
The Tel Hashomer camptodactyly syndrome: Report of a new case and review of the literature
Authors: Pagnan Nina Amalia Brancia , Gollop Thomaz Rafael , Lederman Henrique , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a new case of Tel Hashomer camptodactyly syndrome and review the literature. This syndrome is characterized by skeletal dysplasia, muscle hypoplasia, camptodactyly, and abnormal dermatoglyphics. The inheritance is autosomal recessive with probable partial expression in the heterozygote.
A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg‐Welander syndrome
Authors: Wood Stephen , Shukin Robert J. , McGillivray Barbara C. , Ray Peter N. , Worton Ronald G. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two sisters with a history of muscle weakness and an electromyogram (EMG) diagnosis of Kugelberg‐Welander syndrome (KWS) or juvenile spinal muscular atrophy. A half‐brother to these women was diagnosed to have Duchenne muscular dystrophy (DMD). Using molecular probes, we identified a deletion within Xp2l in this isolated case of DMD. Sequences detected by pXJ1.1 are deleted, while fragments detected by pERT87 are intact. Both of these probes are derived from the DMD locus. We have shown that the affected sisters share with their half‐brother DNA markers that are linked to the DMD gene and inherited from their maternal grandfather. Dosage analysis of Southern blots show monosomy for pXJ1.1, which has allowed us to determine carrier status within this family and to show that the half‐sisters are manifesting DMD carriers.
Identity‐by‐descent analysis of sibship configurations when parental haplotypes can be distinguished
Authors: Shute Nereda C. E. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractHaplotype sharing patterns of sibs identical‐by‐descent are examined following the method of Ethier and Hodge [1985] but taking account of which parent contributes the shared genes. A means of specification of all distinct sibship configurations is considered, along with the corresponding probability of each configuration and the total number of configurations for differing sibship sizes.
Ring chromosome 12
Authors: Park Jonathan P. , Graham John M. , Andrews Patricia A. , Wurster‐Hill Doris H. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractA ring chromosome 12 (p13.3q24.3) was observed in all cells analyzed from skin fibroblasts and the peripheral blood of a 19‐year‐old man initially referred for developmental delay with expressive language deficiency. Other phenotypic anomalies included growth deficiency, multiple café‐au‐lait spots, mild pectus excavatum, glandular hypospadias. left esotropia, clinodactyly of the fifth lingers, and hypothy‐roidism with elevated antithyroid antibodies. The four previously reported cases of r(l2) support the theory of a general ring phenotypc which is manifested independently of the specific autosome involved and which is characterized by growth failure, moderate mental retardation, and lack of other major phenotypic anomalies. Break‐points in all cases of r(12) have been assigned to the telomeric regions, suggesting minimal deletion of chromosome material.
Aspartoacylase deficiency and N‐acetylaspartic aciduria in patients with canavan disease
Authors: Matalon R. , Michals K. , Sebesta D. , Deanching M. , Gashkoff P. , Casanova J. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractAn increased amount of N‐acetylaspartic acid was found in urine and plasma of three patients, from two families, with the diagnosis of cerebral spongy degeneration (Canavan disease). Aspartoacylase was assayed in cultured skin fibroblasts from one patient of each family and a profound deficiency of this enzyme was found. Although the function of N‐acetylaspartic acid is not understood, it is known to occur in high concentration in human brain. The finding of a defect int the metabolism of N‐acetylaspartic acid causing progressive spongy degeneration of the brain may lead to a better understanding of the function of this amino acid derivative. The aspartoacylase assay affords a new tool for determining the diagnosis of Canavan disease. Since aspartoacylase activity was present in cultured amniotic cells and chorionic villi, it is likely that the assay for this enzyme can be used for the prenatal diagnosis of Canavan disease.
Wiedemann‐Beckwith syndrome in apparently discordant monozygotic twins
Authors: Olney Ann Haskins , Buehler Bruce A. , Waziri Mary , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report 3 pairs of monozygotic (MZ) twins, one twin showing typical Wiedemann‐Beckwith syndrome (WBS) with minimal or no expression of the condition in the co‐twin. These cases are documented, and three previously reported MZ twin pairs are reviewed. Phenotypic concordance for this syndrome in MZ twin pairs has not been reported. Many cases of familial occurrence have been published and different modes of inheritance have been postulated. Based on the twin‐twin variability seen in our patients, it seems the most likely mechanism of inheritance is an autosomal dominant mutation with environmental modification of expressivity, or reduced phenotrance.
Prenatal diagnosis of distal arthrogryposis
Authors: Baty Bonnie J. , Cubberley Don , Morris Colleen , Carey John , Reynolds James F. 
Published: June 2005

AbstractWe report the prenatal diagnosis of distal arthrogryposis type I by ultrasound at 18 wk gestation in a family with two other affected members (mother and sister of the fetus). The pregnancy was followed with serial ultrasounds, and the diagnosis was confirmed after birth. The clinical findings in all affected family members are described. A literature survey of prenatally diagnosed cases of multiple joint contractures is presented. These include cases with many different diagnoses. This is the first report of the prenatal diagnosis of distal arthrogryposis type I. It helps to illustrate the variability and prenatal natural history of the condition and the subtlety of the prenatal ultrasound findings.
XK aprosencephaly and anencephaly in sibs
Authors: Townes Philip L. , Reuter Karen , Rosquete Elizabeth E. , Magee B. Dale , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractRecent studies have suggested a causal and pathogenetic relationship between holoprosencephaly and anencephaly. In support of the proposed relationship we report a sibship that includes anencephalic male twins and a female infant with a severe form of alobar holoprosencephaly, radial aplasia, and oligodactyly. The upper limb and brain malformations are considered to represent aprosencephaly syndrome. The coexistence of anencephaly and aprosencephaly within a sibship suggests that XK aprosencephaly syndrome may be an autosomal recessive disorder.
Multiple sclerosis. Updated risks for relatives
Authors: Sadovnick Adele D. , Baird Patricia A. , Ward Richard H. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo important characteristics of multiple sclerosis (MS) are familial clustering and a variable age of onset. There is increasing evidence for a genetically influenced susceptibility in MS. Because of this, patients and their relatives are increasingly asking about the risk for relatives of developing MS.In the MS Clinic in Vancouver, genetic histories are taken routinely for all patients and are updated annually. Patients do not attend the clinic specifically to participate in genetic studies, which could result in over‐representation of familial cases.Data were available for 815 MS index cases and 11,345 of their relatives. Age‐specific MS risks were calculated for first‐, second‐, and third‐degree relatives of probands and are presented in an easy‐reference format. In general, first‐degree relatives of probands have a risk that is 30–50 times greater than the 0.1% risk for the general population.
Cytogenetic analysis of 688 couples experiencing multiple spontaneous abortions
Authors: Castle David , Bernstein Renee , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on cytogenetic analysis of 688 couples experiencing two or more first‐and/or second‐trimester abortions (<20 weeks). The overall abnormality rate was 6.83% (47 couples). However, exclusion of those anomalies not generally accepted as being causal in spontaneous abortion leaves an abnormality rate of only 2.33% (16 couples). We discuss the significance of balanced translations, inversions, sex chromosome aneuploidies, and mosaicisms thereof in the causation of multiple abortions.
Optic nerve coloboma associated with renal disease
Authors: Weaver R. Grey , Cashwell L. Frank , Lorentz William , Whiteman David , Geisinger Kim R. , Ball Marshall , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractOptic nerve colobomas can occur as sporadic abnormalities, may be inherited as an autosomal dominant defect, occur as part of syndromes, and are rarely associated with cardiac malformations and midline encephaloceles.Karcher [1979] described a father and son with the “morning glory” optic disc anomaly and renal disease as a new association.We report on two brothers with optic nerve colobomas associated with renal disease. The ophthalmologic findings and renal histopathology are presented. This second familial occurrence suggests that the association of optic nerve coloboma and renal disease is a newly recognized syndrome.