bluuebunny/crossref_metadata_2025_split huggingface dataset:
X‐linked inheritance of ocular albinism with late‐onset sensorineural deafness
Authors: Winship Ingrid , Gericke George , Beighton Peter 
Published: June 2005

AbstractWe have investigated a large Afrikaner kindred in which seven males had ocular albinism and late‐onset sensorineural deafness (OASD). The pattern of inheritance of OASD is X‐linked recessive. To the best of our knowledge, this association has not previously been reported and in order to establish syndromic identity we describe and discuss the condition in this article.
Trisomy 13 in the child of two carriers of a 13/15 translocation
Authors: Mori M. A. , Huertas H. , Pinel I. , Giralt P. , Martínez‐Frías M. L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on an infant girl with trisomy 13 resulting from an inherited 13–15 Robertsonian translocation identified in a family from a small Spanish village of only 2,100 inhabitants. Both parents and several other relatives had a balanced 13–15 translocation.
Fetal plasma carbonic anhydrase III in prenatal diagnosis of duchenne muscular dystrophy
Authors: Heath Robert , Carter Nicholas D. , Jeffery Stephen , Edwards Robert J. , Watts David C. , Watts Rosemary L. , Rodeck Charles , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractCarbonic anhydrase III (CAIII), a skeletal‐muscle‐specific enzyme which is elevated in the plasma of Duchenne muscular dystrophy (DMD) patients, was measured by radioimmunoassay in fetal plasma in order to evaluate its application to prenatal diagnosis of DMD. Using fetoscopy, pure fetal blood samples were taken at 17–24 weeks gestation from 25 fetuses at risk for DMD and from 78 control fetuses. Care was taken in the handling and storage of all samples. Normal sons were born in eight cases at risk for DMD. The CAIII levels in the infants were not significantly different from those of the control infants. Pregnancies were terminated in the remaining 17 at‐risk cases. The CAIII levels in the fetuses were significantly different (p = 0.0034) from those of the control fetuses, although the distributions overlapped. Based on prior maternal risk, seven affected fetuses were expected in the terminated group; five had CAIII levels at or above the 95th centile of the control range. It is suggested that measurement of CAIII achieves partial discrimination between affected fetuses and their normal at‐risk brethren.
Syndrome of telecanthus, hypertelorism, strabismus, and pes cavus in father and son
Authors: Krauss Celeste M. , Herman Thomas E. , Holmes Lewis B. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a father and son who have telecanthus, hypertelorism, strabismus, and pes cavus. In addition, the son has hypospadias, bilateral inguinal hernia, clinodactyly and camptodactyly of fingers bilaterally, a small tissue mass on the tip of his nose, and radiographic findings including flared metaphyses of long bones and osteopenia.
Dup(3)(p2→pter) in two families, including one infant with cyclopia
Authors: Gimelli Giorgio , Cuoco Cristina , Lituania Mario , Cordone Massimo , Aricò Maurizio , Bianchi Elena , Maraschio Paola , Zuffardi Orsetta , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on 2 unrelated cases of duplication of distal 3p due to balanced maternal translocation t(3;6)(p23;q27) and t(2;3)(p25;p23) respectively.One family was ascertained through the unbalanced offspring and the other through echographic examination of the balanced carrier mother. These cases confirm that dup(3)(p2→pter) results in a characteristic syndrome with distinctive facial appearance. In family 2 inspection of a photograph of a deceased sib was sufficient to connclude that he was affected. The patient in family 2 had cyclopia. Since holoprosencephaly was also reported by Martin and Steinberg [1983], we conclude that this anomaly appears to be a sign of the syndrome.The duplication usually derives from a maternal balanced translocation, in most cases from adjacent‐1 segregation. However, family 2 was ascertained through a balanced female carrier who inherited the translocation from the father. We have noted that the second chromosome (which varies without apparent preferences) involved in these translocations is broken consistently at a distal band.
Reproductive counselling for multiple sclerosis patients
Authors: Sadovnick A. D. , Baird P. A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe diagnosis of multiple sclerosis (MS) is frequently made during the reproductive years, and there is increasing evidence that it has a genetic causal component. An increasing number of couples are concerned about recurrence and they request reproductive counselling at genetic clinics or from their physicians. Here we outline factors to be considered in the reproductive counselling of such individuals. These include (1) empiric recurrence risks, (2) the effect of pregnancy and delivery on maternal MS, (3) overall pregnancy outcome, (4) longterm prognosis for the affected parent, and (5) the possibility of sexual dysfunction in couples trying to conceive a child.
Computerized tomography of the foramen magnum: Achondroplastic values compared to normal standards
Authors: Hecht Jacqueline T. , Nelson F. William , Butler Lan J. , Horton William A. , Scott Charles I. , Wassman E. Robert , Mehringer C. Mark , Rimoin David L. , Pauli Richard M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractComputerized tomographic dimensions of the foramen magnum of 63 achondroplastic individuals were compared to standards established for nonachondroplastic individuals. The size of the foramen magnum in patients with achondroplasia was small at all ages, particularly in those with serious neurologic problems. The data suggest that measurement of the foramen magnum may identify achondroplastic individuals at high risk of developing neurologic complications.
Marker Chromosomes: Cytogenetic characterization and implications for prenatal diagnosis
Authors: Mohandas T. , Canning N. , Chu W. , Passage M. B. , Anderson C. E. , Kaback M. M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractSatellited marker chromosomes were identified in four individuals from unrelated families; one was first encountered in cultured amniotic fluid cells obtained for prenatal diagnostic studies. We present cytogenetic characterization of these marker chromosomes and clinical findings in the individuals carrying them. Identification of a marker chromosome in amniotic fluid cell cultures presents problems in genetic counseling, as it is often difficult to determine the clinical significance of such a finding. Chromosome‐banding techniques now allow the precise identification of satellited marker chromosomes originating from chromosome 15. Presence of a supernumerary bisatellited der(15) marker chromosome containing the proximal long arm of 15 has been associated with mental and developmental retardation. Application of chromosome‐banding techniques was useful in characterization of the marker chromosomes and providing prenatal genetic counseling.
Increased adhesiveness of trisomy 21 cells and atrioventricular canal malformations in down syndrome: A stochastic model
Authors: Kurnit David M. , Aldridge John F. , Matsuoka Rumiko , Matthysse Steven , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractBased on the finding that fetal trisomy 21 fibroblasts explanted from lungs and endocardial‐cushion‐derived structures appear more adhesive in vitro than those from normal control individuals, we present a stochastic model for atrioventricular (AV) canal malformations in Down syndrome (DS). Computer simulations were performed to model the normal anatomic sequences of cushion‐to‐cushion and cushion‐to‐septum fusion in AV canal development. In these simulations, randomwalking endocardial cells were allowed to migrate, divide, and adhere with programmable probabilities. Low values of intercellular adhesiveness engendered simulations resembling normal AV canal development; higher values of adhesiveness yielded deficiencies of AV canal development as seen in DS. Moderately high levels of adhesiveness resulted in abnormalities in only a proportion of multiple, independently performed simulations. The model successfully predicts the temporospatial sequence of anatomic events in cushion‐to‐septum fusion, clinical variability among individuals with the same genotype based on chance alone, and amplified developmental instability as observed in individuals with DS.
Sixty‐four patients with Brachmann–de Lange syndrome: A survey
Authors: Hawley Pamela P. , Jackson Laird G. , Kurnit David M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe surveyed 64 individuals with the diagnosis of Brachmann–de Lange syndrome (BDLS) to determine the natural course and cause of the disorder. The 64 individuals were ascertained through membership in a national organization, the Cornelia de Lange Syndrome (CDLS) Foundation, comprised of families who have a relative with BDLS. We surveyed 64 families by questionnaire and personally examined 24 of the 64. Our data suggest that lower birth weight correlates with a more severe phenotype, specifically including severe upper limb malformations and greater psychomotor retardation. The lower birth weight group showed a significant excess of females. The miscarriage rate was normal and there were no recurrences reported in the 64 families we surveyed. Major management problems included feeding problems and projectile vomiting, behavioral problems including frequent tantrums, hearing and dental difficulties, and recurrent respiratory tract infections. The oldest, teenaged subjects in our study entered puberty; although pregnancy has not been reported in the syndrome, it is likely that people with BDLS are fertile. Though most BDLS children reared at home survive through adolescence, a significant degree of psychomotor retardation and difficult medical management problems still occur.
The clinical spectrum of α‐L‐iduronidase deficiency
Authors: Roubicek M. , Gehler J. , Spranger J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present five patients with α‐L‐iduronidase deficiency who do not have the typical Hurler or Scheie phenotypes; they are compared to 28 similarly atypical cases from the literature. Phenotypic differences are pointed out and intrafamilial similarities stressed. Among the various possible explanations for this situation, the existence of genetic compounds seems acceptable for some of the cases, but others seem to be caused by different mutations. The elucidation of these alternative possibilities from recent biochemical research is discussed.
Factors influencing maternal estimates of genetic risk
Authors: Ekwo Edem E. , Seals Brenda F. , Kim Jae‐On , Williamson Roger A. , Hanson James W. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe relationship between the objective and subjective estimates of genetic risk was studied in 202 women accepting and 50 women not accepting amniocentesis. All women were at risk of having a child with congenital anomalies either because of maternal age at pregnancy or family history of Down syndrome (DS) or other congenital anomalies. Only 28.6% of the women rejecting and 44.4% of the women accepting amniocentesis remembered correctly their objective odds. The correlations between the objective risk estimates and the subjective risk estimates were low overall (r = 0.089, p = 0.08); for women rejecting (r = 0.024, p = 0.44) or accepting (r = 0.082, p = 0.12) amniocentesis. The psychosocial and sociodemographic variables relating to either objective or subjective risk estimates were different for both groups of women. The study provides information on variables that should be taken into consideration in formulating a general theory to predict individual perceptions of genetic risk.
Study of H‐Y antigen in abnormal sex determination with monoclonal antibody and an ELISA
Authors: Moreira‐Filho Carlos A. , Wachtel Stephen S. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA newly developed enzyme‐linked immunosorbent assay (ELISA) has been applied to the study of H‐Y antigen in cases of XY, XYY, and X,dic Y gonadal dysgenesis, testicular feminization syndrome, XXXXY syndrome, and XX true hermaphroditism. Monoclonal H‐Y antibody was absobed with cells from each of eight patients and from normal male and female controls, and then reacted with a plated antigen source in a system subsuming the addition of biotinylated secondary antibody, avidin‐biotin‐enzyme complex and substrate, and thereby the generation of a color. Positive absorption decreased the reaction, and this allowed sensitive measurement of H‐Y phenotype in an electronic optical density reader. The ELISA obviates many of the technical difficulties encountered in complement‐mediated cytotoxicity systems and can be used in the study of clinical cases of aberrant sex determination and in the evaluation of current models of the genetics of sex determination.
Tetraphocomelia in the syndrome of Thrombocytopenia with Absent Radii (TAR syndrome)
Authors: Anyane‐Yeboa K. , Jaramillo S. , Nagel C. , Grebin B. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on an infant with the syndrome of Thrombocytopenia with Absent Radii (TAR) with severe lower‐limb involvement. Amegakaryocytic thrombocytopenia was detected at 6 days when the platelet count was 11,000/μL. The platelet count increased steadily to 100,000/μL at 3 years. The patient required bilateral aboveknee amputations for femorotibial synostoses. We recommend postponement of all elective operations until platelet counts are normal.
Azoospermia and duplication 3qter as distinct consequences of a familial t(X;3) (q26;q13.2)
Authors: Cantú José María , Díaz Miguel , Möller Melba , Jiménez‐Sáinz Martha , Sandoval Lucila , Vaca Gerardo , Rivera Horacio , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA t(X;3) (q26;q13.2) was found in three generations of a family. Female carriers exhibited normal reproductive function, whereas all three postpuberal male carriers showed spermatogenesis arrest at meiosis I. Additionally, a 2 3/12‐year‐old girl had duplication 3qter resulting from an adjacent‐1 segregation.
Prenatal diagnosis of persistent common cloaca with prune belly and anencephaly in the second trimester
Authors: Holzgreve Wolfgang , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report the prenatal diagnosis of a fetus with persistent cloaca, prune belly swquence, and anencephaly. This fetus resembles the recently reported patient with prune beily and anencephaly. A syndromic diagnosis was not possible in either case, but the likelihood of a chance association also has to be regarded as low.
Survival analysis of the severely and profoundly mentally retarded
Authors: Kaveggia Francis F. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractLife‐table analyses were performed on 1,915 severely/profoundly retarded institutionalized persons. Data on probability of death and hazard rates are presented according to sex and previously described diagnostic/etiologic categories. The median remaining lifetime for a resident of Central Wisconsin Center on admission was found to be greater than 25 years. The average age of admission was 7.3 years with a range of 0–66 years. The highest death rate was noted in residents with inborn errors of metabolism; the lowest death rate was in residents with primary seizure disorders. On admission, the median remaining lifetime was 8.81 ± 4.16 years (95 % confidence interval) for residents with inborn errors of metabolism, 18.56 ± 4.26 years for residents with primary CNS malformations, and 24.66 ± 4.05 years for residents with known syndromes. Residents of all other diagnostic/etiologic categories had a median remaining lifetime of greater than 25 years.
Prenatal diagnosis of Pena‐Shokeir syndrome type 1
Authors: MacMillan R. Hunt , Harbert Guy M. , Davis William D. , Kelly Thaddeus E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThis report describes the sonographic diagnosis of the Pena‐Shokeir syndrome type 1 during the second trimester of a pregnancy which was electively terminated. The mother had previously delivered a macerated, hydropic infant with multiple congenital anomalies. The diagnosis was based on the recurrence of hydramnios and nonimmune hydrops in a fetus with normal chromosomes, normal amniotic fluid alpha‐fetoprotein, normal fetal echocardiography, and lack of evidence of a lysosomal storage disease. These observations suggest that serial sonography during the second trimester in pregnancies at risk may allow for the prenatal diagnosis of the Pena‐Shokeir syndrome type 1. Without further experience, it would not be prudent to suggest to couples at risk that the prenatal diagnosis of a recurrence can be assured with a high degree of accuracy.
Wolf‐hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation
Authors: Bauer Kristine , Howard‐Peebles Patricia N. , Keele Doman , Friedman J. M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a child with Wolf‐Hirschhorn syndrome with the karyotype 45,XY,inv(9)(pllq13)pat, −4, −21, +der(4),t(4;21)(p15.3;q11.2)mat. This is the second case known to us of Wolf‐Hirschhorn syndrome caused by 1:3 segregation of a parental rearrangement. This mode of segregation can be predicted in both cases by a pachytene‐diagram model. It is uncertain whether or not the proximal 21q monosomy in this case has affected the phenotype.
Nuchal cysts syndromes: Etiology, pathogenesis, and prenatal diagnosis
Authors: Elejalde B. Rafael , De Elejalde Maria Mercedes , Leno John , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe examined 10 fetuses with nuchal cysts and compared the findings with 32 cases from the literature. Based on their characteristics, we propose that nuchal cysts are signs of four causally and pathogenetically different entities: 1) cystic nuchal blebs present in otherwise normal fetuses as a postmortem change; 2) 45,X fetuses who have a particular appearance and multiple congenital malformations; 3) an apparently autosomal recessive syndrome of multiple cysts (that extend into deep muscular planes), generalized edema, cleft palate, peculiar skeletal characteristics, acutely angulated ribs (producing a bell‐shaped rib cage), and shortened long bones; and 4) in fetuses with syndromes that are inherited (multiple pterygium, Roberts) and chromosomal (trisomy 13, trisomy 21) as an unspecific sign representing both primary and secondary lesions.
A distinctive facial appearance in neurofibromatosis von recklinghausen
Authors: Kaplan Paige , Rosenblatt Bernard , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThree children with neurofibromatosis from two unrelated families have unusual facial appearance due to telecanthus, antimongoloid slant of the palpebral fissures, broad nose, and tapering chin. The two boys have large hands and feet, and one is very tall. There were some facial and dermatoglyphic similarities to individuals with the Noonan syndrome, but the manifestations in the children reported here are sufficiently different to suggest the presence of a different type of neurocristopathy in these individuals.
Noonan syndrome: The changing phenotype
Authors: Allanson J. E. , Hall J. G. , Hughes H. E. , Preus M. , Witt R. D. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractAmong the multiple congenital anomalies (MCA) syndromes, the Noonan syndrome (NS) is a cardiofacial syndrome in which affected individuals may be short and mildly mentally retarded. Autosomal dominant inheritance of Noonan syndrome with variable expressivity has been documented in many families. Genetic heterogeneity has been postulated in Noonan syndrome because of the wide phenotypic variability, the relatively high incidence, and the occasional recurrence in sibs with apparently normal parents. Clinical variability is usual in autosomal dominant disorders, and mildly affected individuals may be difficult to recognize as gene carriers. Thus, a family with two or more affected children may simulate autosomal recessive inheritance.We have studied serial and family photographs of NS individuals in order to assess the likelihood of gene carriers' being missed in genetic sutdies. We have confirmed wide clinical variability within families, and more importantly, we have documented marked change of phenotype with age from the newborn period, infancy, childhood, and adolescence to adulthood. Manifestations in adults may be subtle and some without a known heart defect or other medically significant problems may have been considered normal in the past.Our study, while not ruling out causal heterogeneity, suggests that the change of phenotype with age may have been falsely perceived as clinical heterogeneity. A particular and subtle phenotype must be searched for in parents of affected children.
Gauher disease: Comparative study of acid phosphatase and glucocerebrosidase in normal and type‐1 Gaucher tissues
Authors: Choy Francis Y. M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractAcid phosphatase activity was determined in serum, cultured fibroblasts, and peripheral blood lymphocytes of six splenectomized adult patients with non‐neuropathic Gaucher disease in two Canadian families. Elevated levels of serum acid phosphatase activity (520–711% of normal) were found in four patients who also developed orthopedic complications associated with Gaucher disease, including intermittent bone pain, arthritis, collapse of femoral head, and pathological fractures. Serum acid phosphatase activity in two patients who do not have bone involvement were found to be within the normal range. Contrary to the serum enzyme, acid phosphatase activity in lymphocytes and cultured fibroblasts of all of the patients was within the normal range. Deficient glucocerebrosidase (7.5–15.5% of normal) and acid β‐glucosidase (13.8–27.8% of normal) activities were noted in all probands. Similarly, normal levels of fibroblast and lymphocyte acid phosphatase activity were found in Gaucher heterozygotes whose glucocerebrosidase activity was about 50% of normal. Acid polyacrylamide gel electrophoresis and acid phosphatase activity staining of the patients' sera showed that the elevated acid phosphatase is isozyme type 5 of osteoclastic origin. The apparent Michaelis constant, Km, of fibroblast glucocerebrosidase for the natural substrate was 0.6 ± 0.1 mM for controls and 0.6±0.2 mM for the patients. These data suggest that the assay of serum acid phosphatase activity for the presumptive diagnosis of Gaucher disease is not completely reliable and that the elevated level of serum acid phosphatase in Gaucher disease is most likely a secondary phenomenon which may be indicative of bone involvement in some patients with this disorder. It also demonstrates the clinical heterogeneity of type 1 Gaucher disease, even among full sibs of the same heterozygous parents.
The “muscular variant” of Pompe disease: Clinical, biochemical and histologic characteristics
Authors: Temple Julia K. , Dunn David W. , Blitzer Miriam G. , Shapira Emmanuel , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a 2‐yr‐old boy with progressive muscular weakness and respiratory failure. There was no clinical evidence of heart muscle involvement. Autopsy showed marked intralysosomal glycogen deposition in skeletal muscle and liver with no histological evidence of glycogen deposition in cardiac muscle. The activity of the lysosomal enzyme α‐1,4‐glucosidase was deficient in skin fibroblasts, skeletal muscle, cardiac muscle, and liver; however, the enzymatic activity in peripheral blood leukocytes was in the low normal range. The child's mother had normal enzymatic activity in leukocytes but heterozygote levels in skin fibroblasts.