bluuebunny/crossref_metadata_2025_split huggingface dataset:
A lethal multiple pterygium syndrome with apparent X‐linked recessive inheritance
Authors: Tolmie J. L. , Patrick A. , Yates J. R. W. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe three male fetuses with a lethal multiple pterygium syndrome (LMPS). The family was ascertained when the first pregnancy of healthy, unrelated Scottish parents ended with a miscarriage at 23 weeks gestation. The macerated male fetus had a cystic hygroma, cleft palate, and webbing of the neck, elbows, and thighs. Radiographs showed lack of modeling of long bones, with broad ribs and clavicles, hypoplastic radii and ulnae, abnormal jaw angle, and dislocated femoral heads. Two other fetuses with similar anomalies were born to a first cousin of the propositus. These three male fetuses with a similar lethal multiple pterygium syndrome born to mothers who are second‐degree relatives through the female line suggest X‐linked recessive inheritance of LMPS in this family.
X‐linked hydrocephalus
Authors: Willems Patrick J. , Brouwer Oebele F. , Dijkstra Irene , Wilmink Jan , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a family with X‐linked hydrocephalus: progressive increase in head circumference (OFC) led to the diagnosis in 3 patients; however, in 5 with normal OFC, the initial diagnosis had been “nonspecific” mental retardation, until identification of relatedness between 3 macrocephalic boys suggested segregation of a major Mendelian gene. Moderate to severe hydrocephaly was present in all macrocephalic patients and in 3 of the 5 with normal OFC, but CT‐scan of the brain did not show aqueductal stenosis in any of them.We stress the importance of a brain CT‐scan in every male with “nonspecific” mental retardation, especially in cases with X‐linked inheritance, because confirmation of X‐linkage has important genetic counseling consequences.
Transient cysts of the fetal choroid plexus: Morphology and histogenesis
Authors: Farhood Anwar I. , Morris James H. , Bieber Frederick R. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIn this report, we correlate the clinical and morphologic features of bilateral choroid plexus cysts in three fetuses. These cysts were detected as incidental findings during sonography at 18 to 20 weeks gestation before elective abortion. Two fetuses were normal; the third had trisomy 18. All cysts were present bilaterally in the posterior horns of the lateral ventricles and ranged from 0.5 cm to 1.0 cm in diameter. The walls were translucent, and the cavities were filled with clear serous fluid, except for the left cyst in the third fetus, which was hemorrhagic. The cysts were surrounded by the loose stroma of the choroid plexus. We believe that the formation of these cysts is related to the histogenesis of the choroid plexus. Although such cysts have now been described by sonographers in several fetuses with chromosomal anomalies, this association may reflect ascertainment bias. At this time, we therefore advise caution in interpreting sonographic evidence of isolated choroid plexus cysts as anomalous.
Audiometric evidence for two forms of X‐linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse
Authors: Boneh Avihu , Reade Theresa M. , Scriver Charles R. , Rishikof Ellen , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo forms of X‐linked hypophosphatemia occur in the mouse. One form, caused by the Hyp gene, is a counterpart of human X‐linked hypophosphatemic “vitamin D‐resistant rickets”. The other, recently characterized, is caused by a different gene (Gy) closely linked to Hyp on the mouse X‐chromosome. The Gy mutation also impairs cochlear function in the mouse. We measured hearing in 22 patients with X‐linked hypophosphatemia; five, including 2 mother‐son pairs, had sensorineural hearing deficits due to cochlear dysfunction. We suggest the disease in these persons may be the human counterpart of the Gy phenotype in the mouse, which implies there are 2 forms of X‐linked hypophosphatemia in humans.
Familial Prader‐Willi syndrome with apparently normal chromosomes
Authors: Lubinsky Mark , Zellweger Hans , Greenswag Louise , Larson Gary , Hansmann Irving , Ledbetter David , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on 4 sibs (2F, 2M) with Prader‐Willi syndrome (PWS). Diagnosis was made clinically on the basis of history, behavior, and physical findings in 3 of the sibs. The other child had died at age 10 months with a history and clinical findings typical of first phase of PWS. Results of chromosome studies on the parents and surviving sibs were normal. The implications of this unusual familial occurrence for our understanding of PWS are discussed.
Clinical heterogeneity associated with deletions in the long arm of chromosome 15: Report of 3 new cases and their possible genetic significance
Authors: Kaplan Lawrence C. , Wharton Robert , Elias Ellen , Mandell Frederick , Donlon Timothy , Latt Samuel A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractDeletions, duplications, and rearrangements of the long arm of chromosome 15 are frequently associated with the clinical diagnosis of the Prader‐Willi syndrome. However, a number of other clinical entities have also been associated with similar, if not identical, cytogenetic defects, arguing for clinical heterogeneity associated with abnormalities in this region of chromosome 15. We present 3 patients who all appear to have deletions in 15q11–15q12, such as described for many patients with Prader‐Willi syndrome; however, none of these patients has classical clinical features of the Prader‐Willi syndrome. The first patient is a child with Williams syndrome, the second, Angelman (Happy Puppet) syndrome, and the third is a child with hypotonia of infancy, obesity, and developmental delay, but who does not meet specific diagnostic criteria for the Prader‐Willi syndrome. It is proposed that different molecular abnormalities involving specific points or segments along the long arm of chromosome 15 might account for the clinical diversity seen among these and other patients.
Cyclopia and congenital cytomegalovirus infection
Authors: Byrne Paul J. , Silver Meredith M. , Gilbert Joseph M. , Cadera Werner , Tanswell A. Keith , Reynolds James F. 
Published: June 2005

AbstractWe describe the first documented association of congenital cytomegalovirus (CMV) infection and cyclopia. A previous report has suggested that any infant with congenital ocular defects should be investigated for CMV infection [Frenkel et al, 1980]. Our case underlines this suggestion and questions a teratogenic role for CMV in cyclopia‐holoprosencephaly. More documented cases may help clarify the relationship of transplacental CMV infection to the holoprosencephaly developmental field defect, including cyclopia.
X‐linked laterality sequence: Situs inversus, complex cardiac defects, splenic defects
Authors: Mathias Robert S. , Lacro Ronald V. , Jones Kenneth Lyons , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe association of abdominal situs inversus, complex cardiac defects, and alterations in development of the spleen represents a developmental field complex with variable expression of altered laterality. Familial and inherited cases documenting respectively autosomal recessive and dominant inheritance have been reported. We report on the first family in which X‐linked recessive inheritance of this defect has been documented.
Thrombocytopenia with absent radius in a boy and his uncle
Authors: Schnur Rhonda E. , Eunpu Deborah L. , Zackai Elaine H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report a boy and his maternal uncle who have Thrombocytopenia‐Absent Radius (TAR) syndrome. The mother of the propositus is normal. A maternal aunt has mild radial hypoplasia, possibly representing partial expression of the syndrome. A review of the literature shows several pedigrees in which relatives other than sibs were affected with TAR. Thus, autosomal recessive inheritance may not account for all cases and alternate modes of transmission should be considered.
Renal insufficiency in Williams syndrome
Authors: Biesecker Leslie G. , Laxova Renata , Friedman Aaron , Reynolds James F. 
Published: June 2005

AbstractA 19‐year‐old patient with Williams syndrome and renal cystic dysplasia is presented. This young man has had gradual deterioration of renal function and recurrent, acute episodes of dehydration secondary to a concentrating defect. A review revealed several reports of renal dysfunction in patients with Williams syndrome, but this complication has not been sufficiently emphasized. We recommend that all patients with Williams syndrome undergo periodic ultrasound examination and renal function evaluation.
Apparent Apert syndrome with polydactyly: Rare pleiotropic manifestation or new syndrome?
Authors: Maroteaux Pierre , Fonfria Marie Christine , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo patients are described with a syndrome which resembles Apert syndrome with polydactyly of hands and feet. This association is apparently rare and we think that this may represent a distinct syndrome separate from Apert syndrome.
45X/46X,r(X) with syndactyly and severe mental retardation
Authors: Kushnick Theodore , Irons Thomas G. , Wiley John E. , Gettig Elizabeth A. , Rao Kathleen W. , Bowyer Susan , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo white females, age 2 1/2 and 33 years, respectively, were investigated because of severe mental retardation associated with neurologic abnormalities, coarse face, and soft tissue syndactyly involving upper and lower limbs. Each had cytogenetic findings of a mosaic variant of Ullrich‐Turner syndrome with X ring chromosome in peripheral lymphocyte and skin fibroblasts. Early X replication occurred in one‐third of the X ring chromosomes; there was no evidence for X‐autosome translocation involving either X and an autosomal duplication; results of studies for fragility of the X chromosomes were unremarkable. In situ hybridization with an X centromere probe was positive for the ring. To our knowledge, the unusual constellation of cytogenetic, physical, and mental findings seen in these 2 individuals has not been reported previously.
Elevated glucocorticoid receptor levels in lymphocytes of children with the fetal hydantoin syndrome (FHS)
Authors: Goldman Allen S. , Van Dyke Don C. , Gupta Chhanda , Katsumata Masuyuki , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractOur recent studies of the teratogenic mechanisms of phenytoin (DPH) and glucocorticoid in mice have indicated that DPH utilizes the anti‐inflammatory pathway of glucocorticoids in producing congenital defects, such as cleft palate. This pathway is influenced by H‐2 and H‐3 histocompatibility‐linked genes in the mouse, such that congenic strains have H‐2 or H‐3 alleles that confer susceptibility to DPH‐induced‐induced congenital defects, and susceptible H‐2 congenic strains have high glucocorticoid receptor levels. However, other H‐2 or H‐3 alleles confer resistance to these defects in their otherwise genetically identical congenic partner strains, and “resistant” H‐2 alleles are associated with low levels of these receptors.To determine whether this animal work is applicable to the human, we have sought to investigate whether the level of glucocorticoid receptors in circulating lymphocytes of children with the fetal hydantion syndrome (FHS) is as it is in the animals.We found that children with FHS had glucocorticoid receptor levels significantly elevated above those of unaffected children was also significantly levels significantly elevated above those of unaffected children with similar DPH exposure in control families. The receptor level of affected children was also significantly elevated above that of fathers of children with the FHS and of fathers and mothers of control children. These findings are consistent with those documented in the animal models and suggest that an elevated level of glucocorticoid receptors in lymphocytes may be a marker for susceptibility to the FHS syndrome.
Amniotic band sequence and its neurocutaneous manifestations
Authors: Chen Harold , Gonzalez Enrique , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractSix new cases of the amniotic band sequence with a wide spectrum of defects were studied with respect to neurocutaneous manifestations, including histopathologic characteristics. Fetuses 1 and 2 were stillborn. Despite severe craniofacial involvement, infants 3 and 4 survived 1 yr and 22 months, respectively. Patients 5 arid 6 had only limb defects. Craniofacial and neurologic manifestations of our longer‐survival patients with severe craniofacial anomalies were microcephaly, encephalocele, micro‐ or anophthalmia, mental retardation, hydrocephaly, seizures, EEG abnormalities, impaired body temperature control, impaired vision, hypertonia, and other psychomotor deficits. Characteristic cutaneous manifestations seen in our patients were clefting, schisis, fibrous strings, ring constriction, lymphedema, pseudosyndactyly, and intrauterine amputation. Histologic examination of the amniotic bands attaching to the skin showed autolyzed amnion in patient 2, erosion of the band into upper dermis in patient 1, and fibrosis underlying the constricted areas in patient 5. Prenatal diagnosis by ultrasonography is possible in patients with severe craniofacial defects (patient 2). A brief review of the literature is offered.
Metacarpophalangeal pattern profile analysis in diastrophic dysplasia
Authors: Butler Merlin G. , Gale David D. , Meaney F. John , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe analyzed the metacarpophalangeal pattern profile (MCPP) on 16 individuals with diastrophic dysplasia and calculated a mean syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in diastrophic dysplasia. Discriminant analysis of individuals with diastrophic dysplasia compared with a sample of normal individuals produced a function of 3 MCPP variables plus age that appears to be a useful diagnostic tool.
Duplication of proximal 15q as a cause of Prader‐Willi syndrome
Authors: Pettigrew Anjana L. , Gollin Susanne M. , Greenberg Frank , Riccardi Vincent M. , Ledbetter David H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe an apparent duplication of proximal 15q, i.e., 15qllql2 or 15ql2ql3 in two patients. Prometaphase chromosome analysis, C‐banding and distamycin A/DAPI staining were used to exclude a translocation between the abnormal 15 homolog and another chromosome. The 2 patients have many manifestations of the Prader‐Wil1i syndrome (PWS) including at least 5 of the following: obesity, compulsive eating, mental retardation, short stature, central hypotonia, hypogonadism, small hands and feet, hypopigmentation, and feeding problems in infancy. Results of high resolution chromosome analysis of the parents of both patients were normal. A comparison between these patients and 2 subjects from previous reports demonstrates phenotypic heterogeneity among the duplication 15q PWS patients. Two patients have the hypopigmentation seen in chromosomally normal and deletion PWS patients. These cases add to the variety of chromosome 15 aberrations which are associated with PWS.
Neonatal diagnosis of Prader‐Willi syndrome and its implications
Authors: Greenberg Frank , Elder Fred F. B. , Opitz John M. , Reynolds James F. , Ledbetter David H. 
Published: June 2005

AbstractAlthough Prader‐Willi syndrome (PWS) patients usually first present with neonatal hypotonia and feeding difficulty, they later show hyperphagia, obesity and men tal retardation. Since deletions of chromosomes 15qll‐ql3 are noted in most PWS patients cytogenetic analysis allows one to diagnose infants suspected of PWS with a greater certainty. We report on 5 hypotonic infants clinically suspected of PWS in the first 3 months of life, whose diagnosis was confirmed by cytogenetic studies showing monosomy of 15qll‐ql3. Early diagnosis of PWS can lead to prevention of obesity, but counseling of parents has been difficult. Although there are significant benefits to the early diagnosis of PWS, the cost‐effectiveness and practi cality of screening all hypotonic infants using high resolution cytogenetic analysis has not been addressed systematically.
Premature coronary artery atherosolerosis in a patient with Prader‐Willi syndrome
Authors: Lamb Andrew S. , Johnson William M. , Opitz John M. , Reynolds James F. , Ledbetter David H. 
Published: June 2005

AbstractA 26‐year old white male with Prader‐Willi syndrome (PWS) and non‐insulin‐dependent diabetes mellitus Presented with asymptomatic bilateral lower limb swelling. An electrocardiogram was consistent with an inferior wall myocardial infarction of unknown age and a graded exercise test using the Bruce protocol was consistent with inferolateral ischemia. Subsequent cardiac catheterization showed severe, inoperable, three‐vessel coronary artery disease. Atherosclerotic coronary artery disease in PWS has been documented only once in the literature, and then only postmortem. This case provides further (and for the first time, premortem) ducumentation that premature atherosclerotic coronary artery disease may play an important but presently unrecognized role in the morbidity and mortality in PWS.
Rumination and vomiting in Prader‐Willi syndrome
Authors: Alexander Randell C. , Greenswag Louise R. , Nowak Arthur J. , Opitz John M. , Reynolds James F. , Ledbetter David H. 
Published: June 2005

AbstractInability to vomit has been cited as characteristic of Prader‐Willi syndrome (PWS). Although post‐prandial vomiting after gastric by‐pass surgery has been reported, neither vomiting under “typical” circumstances or rumination have been described. Prompted by the discovery of several cases of vomiting and rumination, a questionnaire was sent to members of the PWS Association. Approximately 36% (113/313) of affected individuals reportedly experienced at least one episode of vomiting. Induced vomiting was unsuccessful in 9 of 14 cases in whom results were known. However, no complications of Ipecac were reported. We suggest that there is an alteration in the physiologic set‐point at which vomiting occurs, leading to a decreased propensity to vomit. Liberal and strict definitions of rumination yielded 15.7% and 10.2% positive responses, respectively. Rumination was associated with a history of vomiting. Enamel deterioration consistent with rumination has been observed, and such changes should be looked for in all PWS children. In several instances, rumination was found to decrease when very strict weight control was lessened. Certain individuals may ruminate under too strict a weight control program, and weight control goals should be evaluated to achieve a reasonable compromise between ideal weight and obesity. Vomiting and rumination do not rule out the diagnosis of PWS.
Social skills training of Prader‐Willi staff
Authors: Mitchell William , Cook Kaye V. , Opitz John M. , Reynolds James F. , Ledbetter David H. 
Published: June 2005

AbstractOver the past 30 years, research interest in PWS has focused on questions related to the identification of syndrome features, determination of etiology and incidence, and effectiveness of both medical and nutritional management strategies. Residential and day treatment facilities have emphasized control of food and of inappropriate behaviors. The present training program developed techniques and materials to encourage positive behaviors and minimize inappropriate behaviors, supplementing earlier techniques. Activities from social skills training curricula were adapted to the needs of PWS persons. Training sessions were held with staff in residential settings to field test the techniques. This paper summarizes the training program and describes effective techniques and materials.
Duchenne muscular dystrophy: Comparison among different racial groups
Authors: Bortolini Eliete Rabbi , Zatz Mayana , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have compared 232 patients with Duchenne muscular dystrophy belonging to three racial groups: caucasoids, negroids, and mongoloids. Clinical evolution, serum creatine‐kinase, and pyruvate‐kinase levels were analysed in the three groups.The results of this investigation show that the clinical evolution did not differ significantly among these three racial groups. For serum enzyme activities a statistically significant difference was found only for CK between negroids and mongoloids.
Parental perceptions of the burden of genetic disease
Authors: Ekwo Edem E. , Kim Jae‐On , Gosselink Carol A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractParents who are carriers of genes that code for genetic disease face a complex decision regarding procreation. To investigate how parents perceive the potential effects of having a child with congenital defects and how such perceptions influence their reproductive decisions, 202 women accepting and 50 women rejecting amniocentesis after genetic counseling were followed in a 3‐year longitudinal study. Using multiple correspondence analysis, we found that perceived burdens associated with hypothetical congenital abnormalities leading to prolonged illness or early death were considered the most serious, those related to physical handicap or facial abnormalities were perceived as least serious, while genetic defects causing mental retardation fell between. The parents were increasingly likely to accept amniocentesis the more they felt they would be unable to cope with the consequences of a genetic disease leading to prolonged illness or mental retardation (R =.23). Overall, the women who accepted amniocentesis were those who perceived the consequences of congenital malformation as most burdensome. The findings suggest that genetic counselors should not only explore parents' attitudes about specific congenital abnormalities, but also their perceptions of how they would cope with the medical and social consequences of the various genetic defects.
Tibial aplasia‐ectrodactyly as variant expression of the Gollop‐Wolfgang complex: Report of a Brazilian family
Authors: Richieri‐Costa A. , Brunoni Decio , Filho José Laredo , Kasinski Silvana , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a consanguineous Brazilian couple whose 2 children had tibial aplasia‐ectrodactyly. Femoral bifurcation was present in one of the affected children. The relationship of tibial aplasia‐ectrodactyly to the Gollop‐Wolfgang complex is discussed. Clinical and genetic aspects of the conditions involving tibial aplasia and femoral bifurcation are discussed.
Dermatoglyphic development on the volar pads of rats with chromosome abnormalities
Authors: Okajima M. , Yosida T. H. , Ikeuchi T. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractDermatoglyphic abnormalities are often observed in patients with chromosome aberrations, but no similar observations have been made in animals. In the present study, palmar dermatoglyphics were examined in 4 rats with chromosome anomalies. Reciprocal translocations were induced by γ‐irradiation; the animals used were obtained from among offspring with abnormal karyotypes that were derived from the original mutant rats. As the epidermal surface of the volar pad of the rat is flat, dermatoglyphic characteristics were observed on the dermal surface following staining with toluidine blue. Unusual ridge configurations were found in some of them, suggesting that dermatoglyphic development in the rat reflects, to some extent, an abnormal chromosome constitution.