bluuebunny/crossref_metadata_2025_split huggingface dataset:
A family study of congenital diaphragmatic defects
Authors: Czeizel Andrew , Kovács Márta , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe occurrence of specific and nonspecific congenital anomalies was determined in first degree relatives of index patients with congenital diaphragmatic defects who were born in Hungary between 1970 and 1979 and were ascertained through a population‐based registry. The cases were grouped into Bochdalek types (N = 156), other types (N = 26), unclassified types (N = 55), and multiple congenital anomalies (MCA) cases including those with congenital diaphragmatic defects (N = 96). The sib occurrence in the Bochdalek type was 0.9% (taking into consideration also the unclassified cases or the total material, it was 0.5% or 0.4%, respectively). Specific familial clusters were not found in other types. Neural tube defects were detected in 1.8% of sibs in the total material and 2.4% in MCA cases.
X‐linked midline defects
Authors: Toriello Helga V. , Higgins James V. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractOpitz and Gilbert [Am J Med Genet 12:443–455, 1982] have postulated that the midline may be a kind of developmental field. Although developmental field defects (primary malformations) usually occur sporadically, in some instances they can be caused by a single gene mutation. We report on a family in which the occurrence of midline defects was consistent with X‐linked inheritance. Anomalies present in the family include hydrocephalus, anencephaly, cleft lip, congenital heart defect, renal agenesis, and hypospadias.
Sisters with polysplenia
Authors: De La Monte Suzanne M. , Hutchins Grover M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe pathogenesis of asplenia and polysplenia in humans is unknown. The conditions have been regarded as duplication of sidedness or abnormalities of embryonic curvature. The resemblance of the abnormalities in an autosomal recessive mutation (iv) in mice to those in humans with asplenia or polysplenia suggest the possibility of a genetic basis for asplenia/polysplenia in humans. We have studied a family in which two sisters had polysplenia, one sib pregnancy resulted in abortion, and two sibs and the parents are living and well with no evidence of the condition. Documentation of such families will be of value in determining the variations in expression of the condition and possible relationship between asplenia and polysplenia.
Central nervous system neoplasm in a young man with Martin‐Bell syndrome – fra(X)‐XLMR
Authors: Rodewald Lance , Miller Douglas C. , Sciorra Leonard , Barabas Gabor , Lee Ming‐liang , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA 17‐year‐old retarded male developed unilateral leg weakness with foot drop, pain, and incontinence. Workup disclosed a cauda equina tumor which, on surgical exploration, was demonstrated to merge with the conus medullaris. Pathological examination of the subtotally resected tumor led to a diagnosis of malignant ganglioglioma. Further evaluation of the patient documented marginal macro‐orchidism, and chromosome studies showed fragile X. Since some neoplasms are known to be associated with chromosomal deletions and other abnormalities, we suggest that the occurrence of this tumor in this patient indicates a more than coincidental relationship between the two diagnoses.
Autosomal suppressor gene for fragile‐X: An hypothesis
Authors: Israel Martin H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe suggest the existence of an autosomal suppressor gene, S, which is fairly common in the general population and acts to inhibit expression of the fra(X) gene, F. The suppression is effective in males who are hemizygous for F only if they are homozygous for S, while it is effective in females who are heterozygous for F if they are at least heterozygous for S. Thus, the fra(X) phenotype is not expressed in genotypes F‐SS, FfSS, FfSs, while it is expressed in genotypes F‐Ss, F‐ss, Ffss.With a frequency of SS in the general population of approximately 20%, this hypothesis can explain the observed penetrance of about 80% in F‐ males and about 30% in Ff females. It can also explain the very low frequency of fra(X) expression in Ff females who are daughters or mothers of non‐penetrant F‐ males, and a lower penetrance in siblings of non‐penetrant F‐ males than in grandsons of these males. The model is in good quantitative agreement with other unique characteristics of fra(X) inheritance.
Dominant inheritance of a syndrome similar to Rubinstein‐Taybi
Authors: Cotsirilos Patricia , Taylor JoEllyn C. , Matalon Reuben , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo sibs and their mother were affected with a syndrome like the Rubinslein‐Taybi syndrome. All three individuals had broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic facial appearance with beaked noses. Four sibs of the mother had broad thumbs, suggesting a familial pattern. So far there has been no report of dominant transmission of the Rubinstein‐Taybi syndrome. This family bears close resemblance to the Rubinstein‐Taybi syndrome, which is transmitted as an autosomal or X‐linked dominant trait. Inasmuch as the expressivity of the syndrome may be variable, we propose that a thorough family investigation is indicated in all apparently sporadic cases of Rubinstein‐Taybi syndrome. Familial cases may be more common than realized and require appropriate genetic counseling.
Dermatoglyphic traits as possible markers of developmental processes in humans
Authors: Livshits G. , Kobyliansky E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractHere we provide data on the relationship in variability between common anthro‐pumetric characters (stature, interocular diameter, mesosternal chest circumference, bi‐trochanteric diameter, and palm length) and dermatoglyphic traits in groups of young healthy individuals.Our working hypothesis was that quantitative variables of fluctuating asymmetry, diversity, and variability involving dermatoglyphic traits, will be higher in more homozygous groups than in heterozygous ones. It was found that individuals who were in the center (average ± 0.67 SD) of the morphological trait distribution (and therefore perhaps more heterozygous at loci determining the aforementioned morphological traits), have reduced fluctuating asymmetry in their ridge counts (RC). These heterozygous individuals tended to have lower values of the RC‐diversity‐indices and the Shanon information‐measures of discrete digital patterns.On the basis of the present results and a large body of literature data, the use of dermatoglyphic traits as “markers” of developmental processes are discussed.
Juvenile hyaline fibromatosis: Two new patients and review of the literature
Authors: Fayad Michel N. , Yacoub Antoine , Salman Salah , Khudr Adele , Der Kaloustian Vazken M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a sister and a brother (born to normal consanguineous parents) with joint contractures and osteolytic lesions of bones. The sister had also gingival hyperplasia and skin lesions consisting of multiple tumors of the face, nose, palate, cars, and neck. Histologic examination showed findings of juvenile hyaline fibromatosis. The literature is reviewed, and 15 cases already reported arc summarized.
Ring chromosome 6: Report of a patient and literature review
Authors: Chitayat D. , Hahm S. Y. E. , Iqbal M. A. , Nitowsky H. M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA patient with ring chromosome 6 had most of the manifestations previously reported in this syndrome and also had albinoid fundi and unilateral aniridia, findings not previously described. In most peripheral leukocyte metaphases analyzed, one chromosome 6 was replaced by a monocentric ring chromosome with deletion of the 6p and 6q. Fifteen other patients with a ring chromosome 6 have been reported. The most frequent findings were mental retardation, prenatal and postnatal failure, epicanthal folds, fiat nasal bridge, short neck, apparently low‐set and/or malformed ears, microphthalmia, and micrognathia. Studies of coagulation Factors XII and XIII and of the P blood group for possible assignment on distal 6p and 6q did not provide evidence for localization of the genes for these factors on the pter → p24 part of chromosome 6.
Pilodentoungulardysplasia with microcephaly: A new ectodermal dysplasia/malformation syndrome
Authors: Tajara Eloiza Helena , Pinheiro Marta , Freire‐Maia Newton , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a 6‐year‐old Brazilian girl with hypotrichosis, dental alterations, onychodysplasia, microcephaly, mental retardation, precocious puberty, abnormal palmar creases, and other findings. This appears to be the first report of this multiple congenital anomalies/mental retardation (MCA/MR) syndrome which is probably due to an autosomal recessive gene.
Paternity testing 3: Exclusion probabilities
Authors: Brown Constance M. , Seber G. A. F. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractBlood typing with several blood systems is used in many countries to determine paternity or nonpaternity with respect to an alleged father. Various probabilities are usually presented, in particular: (1) the conditional probability of excluding a random man as father given a particular mother‐child phenotype combination, and (2) the expected (unconditional) exclusion probability for all mother‐child combinations can be calculated for a given blood system. Because these probabilities are of general interest in paternity studies, explicit formulae for the unconditional probabilities have been derived for some of the systems. Algorithms suitable for a microcomputer are given here for finding the exclusion probabilities for any system. These algorithms avoid the need for developing new formulae whenever a new system is introduced or a current system is extended through the addition of further alleles.
Familial situs inversus and congenital heart defects
Authors: Zlotogora J. , Schimmel M. S. , Glaser Y. , Reynolds James F. 
Published: June 2005

AbstractThe midline is a major determinant in the lateral symmetry of the embryo and represents a developmental field which, if defective, may lead to an abnormal situs determination. A family in which four out of seven children had situs inversus and/or congenital heart defects is presented. This report confirms the autosomal recessive inheritance of this developmental field defect.
Autosomal dominant painful plantar callosities
Authors: Rachid Acir , Freire‐Maia N. , Pinheiro Marta , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe large kindred with an autosomal dominant condition characterized by painful callosities that develop over the pressure points of the soles. These callosities are not congenital; they arise with upright ambulation.
Autosomal dominant cerebro‐costo‐mandibular syndrome: Ultrasonographic and clinical findings
Authors: Merlob Paul , Schonfeld Alex , Grunebaum Michael , Mor Naomi , Reisner Salomon H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe two patients, a father and his daughter, with the cerebro‐costo‐mandibular syndrome. New manifestations not previously described include mi‐crostomia, long philtrum, posterior cervical skin fold, short internipple distance, and depressed sacral region. The presence of hydrocephaly in the proposita and spina bifida in the father may be other manifestations of neuraxial involvement in this syndrome. The first intrauterine ultrasonographic documentation of this syn‐drome showed polyhydramnios and, especially, the very unusual shape of the ribs, which were short and defective. Most characteristics of the pedigree point to autosomal dominant inheritance. The great variability of inheritance and expres‐sivity of the very few documented familial cases described in the literature, together with the great frequency of sporadic cases, indicates genetic heterogeneity of this syndrome.
Partial duplication 16p resulting from a 3:1 segregation of a maternal reciprocal translocation
Authors: Mori Maria A. , Gomar Juan L. , de Bustamante Aranzazu Diaz , Ananias Abraham , Pinel Ismael , Martinez‐Frias Maria L. , Reynolds James F. 
Published: June 2005

AbstractWe report on a male infant with a duplication 9p (pter → q13) and duplication 16p (p13 → pter) resulting from a 3:1 meiotic disjunction of a maternal reciprocal translocation. In this case, the mode of segregation fits to the Pachytene‐Diagram Model of Jalbert el al [1980]. The infant showed clinical features that have been described both in dup(16p) and in dup(9p). To our knowledge, this is the first time that this unbalanced karyotype has been reported.
Presymptomatic testing for Huntington chorea: Guidelines for moral and social accountability
Authors: Smurl James F. , Weaver David D. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractClinical trials of a presymptomatic test for Huntington chorea (HC) are beginning, and the test may set precedents in screening for other genetic disorders in this way. Therefore, it seems an opportune time to consider the moral and social implications of such testing. The strategy proposed here takes the form of guidelines for research, development, and clinical application of the HC test and any future similar tests. The guidelines cover four stages (preliminary research, verification, refinement, and clinical application). They draw on past experience, on existing guidelines for research involving human subjects, and on some ueneral moral and legal principles. In addition to traditional concerns about relationships between counselors and consultands, they emphasize more contemporary concerns about the interests of third parties and social institutions in what occurs in modern methods of genetic screening. In all cases, however, the guidelines are provisional and are offered here mainly for purposes of discussion and to encourage similar efforts at policymaking by those who become involved with these forms of testing.
Attitudes of persons at risk for Huntington disease toward predictive testing
Authors: Kessler Seymour , Field Tracy , Worth Laura , Mosbarger Heidi , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractAttitudes of 69 persons at risk for Huntington disease (HD) were obtained by means of semistructured interviews and questionnaires. About 79% of the individuals said that they would use a presymptornatic predictive test if it were available. All believed that the test should be made available even though there was no cure for HD. Nearly 2/3 of subjects would use the test for prenatal diagnosis, and of these 71% would terminate a pregnancy if the fetus was found to carry the HD gene. Most subjects believed that pretest counseling should be mandatory and many said that testing should be withheld from persons who were psychologically unstable or were threatening self‐harm. The data suggest that about 2–6% of persons at risk for HD may have severe psychiatric or suicidal responses to a positive outcome of predictive testing. This underscores the need for adequate pretest counseling and the availability of professional and community resources tó deal with the impact of predictive testing on individuals and their relatives.
Attitudes toward presymptomatic testing in Huntington disease
Authors: Mastromauro Carol , Myers Richard H. , Berkman Barbara , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractOne hundred thirty‐one individuals at 50% risk of inheriting Huntington disease (HD) responded to a survey to study their attitudes toward taking a genetic test based on the identification of a genetically linked DNA polymorphism. Ninety‐six percent of the respondents believe that presymptomatic testing should be available, and 66% say they will use it themselves. Fewer married individuals, in comparison to those single, separated, and divorced, intend to take the test. Many respondents (40%) said their primary reason for wanting to be tested is to end the uncertainty in their lives. Results suggest that there will be self‐selection in test use, with many individuals who believe they will be depressed or possibly suicidal with a positive test result deciding not to be tested or unsure about testing. However, 15% of those who want to be tested acknowledge that they may be at risk for suicide if they are probable gene carriers. Only 12% of all respondents say they will be likely to use prenatal testing, suggesting that initial demand may be low in New England. Implementation of presymptomatic testing challenges health care providers to develop strategies to care for otherwise healthy persons who will be given a diagnosis years before the onset of illness.
At‐risk Persons' attitudes toward presymptomatic and prenatal testing of Huntington disease in Michigan
Authors: Markel Dorene S. , Young Anne B. , Penney John B. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractOne hundred fifty‐five individuals at 50% risk of inheriting Huntington disease (HD) were given a questionnaire surveying their sociodemographic characteris‐tics, experience with HD, and attitudes toward presymptomatic and prenatal testing in HD. About two‐thirds (63.2%) of the persons indicated they would take a presymptomatic test even if no specific treatment was available. Although one‐half (49%) of the respondents stated they would make use of a prenatal test, only 43% of these individuals would decide to terminate a heterozygous fetus. Presym‐patomatic test results indicating carrier status would influence some of the respondents' decisions about marriage and childbearing. This strong interest of at‐risk persons to make use of both presymptomatic and prenatal diagnosis in HD indicates the need for well‐organized testing programs. These programs must be designed to address the genetic, psychosocial, and ethical issues that may arise in the use of this type of genetic test.
Congenital corneal anesthesia with retinal abnormalities, deafness, unusual facies, persistent ductus arteriosus, and mental retardation: A new syndrome?
Authors: Ramos‐Arroyo Maria A. , Clark G. Gregory , Saksena Sudha S. , Modes M. E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo sibs who had hypesthetic corneas, absence of the peripapillary choriocapillaris and retinal pigment epithelium, sensorineural hearing loss bilaterally, persistent ductus arteriosus, moderate mental retardation, and unusual facial appearance are described. Their mother had mild to moderate sensorineural hearing loss, retinal changes and similar facial features. The differential diagnosis is discussed. We believe this is a clinically distinct syndrome with autosomal dominant inheritance.
Autosomal recessive nonsyndromal microcephaly with normal intelligence
Authors: Teebi Ahmad S. , Al‐Awadi Sadika A. , White Arthur G. , Reynolds James F. 
Published: June 2005

AbstractAutosomal recessive microcephaly is usually associated with moderate to severe mental retardation. An apparently new autosomal recessive disorder comprising a characteristic facial appearance associated with microcephaly and normal intelligence, immunodeficiency, and increased risk for lymphoreticular malignancies has been described recently. We report on a large Arab kindred with frequent consanguineous marriages and eight cases in five sibships with microcephaly, peculiar facies, and normal intelligence. Of these cases, two died of an acute lymphoreticular malignancy or bronchopneumonia. Immunological and chromosomal studies carried out for the three affected living sibs were normal. The existence of an autosomal recessive nonsyndromal variant of microcephaly with normal intelligence is proposed and discussed.
Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients
Authors: Rollnick Beverly R. , Kaye Celia I. , Nagatoshi Konrad , Hauck Walter , Martin Alice O. , Reynolds James F. 
Published: June 2005

AbstractHere we describe the phenotypic characteristics of a single craniofacial clinic population of 294 individuals affected with Oculoauriculovertebral dysplasia (OAV) and variants. To our knowledge, this is the largest population so described in the literature.The study population was divided into five subgroups based on the presence of combinations of minimal diagnostic criteria: microtia, mandibular hypoplasia, anomalies of the cervical spine and/or epibulbar or lipodermoids. The following data were recorded: (1) sex (M:F 191:103); (2) race (78% Caucasian); (3) the presence of unilateral or bilateral microtia (193 unilateral, 98 bilateral); (4) the presence of symmetric microtia in bilateral cases (34/98); (5) the presence of mandibular hypoplasia ipsilateral or contralateral to the microtic ear or most severely microtic ear in bilateral cases (135/137 were ipsilateral in unilateral cases, 55/62 were ipsilateral in bilateral cases); (6) the number of individuals with no Other congenital anomaly in addition to the minimal diagnostic criteria (154/294), with only one other congenital anomaly (51/294), and with two or more other congenital anomalies (89/294); and 7) the type of other congenital anomalies. Finally, we compared our results with other studies.Findings from our study include: (1) mandibular asymmetry should be expected in patients with unilateral or bilateral microtial; (2) bilateral involvement is frequent in patients with microtia; (3) other malformations are seen frequently in all subgroups; (4) anomalies of the cervical spine are more likely to be associated with other anomalies; and (5) other malformations are seen in all systems and should be searched for to provide optimal management.
Vitamin B12 responsive homocystinuria and megaloblastic anemia: Heterogeneity in methylcobalamin deficiency
Authors: Rosenblatt D. S. , Thomas I. T. , Watkins D. , Cooper B. A. , Erbe R. W. , Reynolds James F. 
Published: June 2005

AbstractA male infant with methyl‐B12 deficiency (cblE) presented at age 6 weeks with lethargy, staring spells, and vomiting. He later became hypotonic and unrespon sive to stimuli and required intubation and ventilation. He had homocystinuria and hypomethioninemia with megaloblastic anemia but normal serum folate and vitamin B12 concentrations. No methylmalonic aciduria was detected. Fibroblasts, cultured from the patient, were unable to grow in medium in which homocysteine replaced methionine and incorporated abnormally small amounts of [14C]‐methyl‐tetrahydrofolate but normal amounts of [14C]‐propionate into protein. Methyl‐B12 content of fibroblasts was low, while the adenosyl‐B12 content was normal. Methionine synthase activity was decreased when the assay was performed under both optimal and suboptimal reducing conditions, suggesting heterogeneity in the cblE disease. The patient responded dramatically to hydroxocobalamin treatment. Homocystinuria disappeared after 10 days of therapy, and methionine was normalized after 3 weeks. Psychometric testing at age 15 months showed a developmental age of 9 months.
Menkes syndrome in a girl with X‐autosome translocation
Authors: Kapur Saroj , Higgins James V. , Delp Kathleen , Rogers Brian , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a girl with Menkes syndrome (M.S.) and X‐2 reciprocal translocation. We conclude that the probable locus for M.S. gene is at band Xql3. This case and other previous case reports of X‐linked disorders in females suggest that chromosome analysis is indicated in all females who present with manifestations of a known X‐linked lethal condition in order to detect a possible associated balanced X‐autosome translocation.