bluuebunny/crossref_metadata_2025_split huggingface dataset:
Congenital abnormalities in two sibs exposed to valproic acid in utero
Authors: Chitayat David , Farrell Kevin , Anderson Linda , Hall Judith G. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractNeural tube, craniofacial, and other congenital abnormalities have been described in infants born to mothers with epilepsy who were treated with valproic acid (VPA) during pregnancy. The pathogenetic relationship between the congenital abnormalities and exposure to VPA is not clear. We describe 3 sibs born to a mother with epilepsy. Only the 2 sibs who were exposed to VPA in utero had certain of the characteristic craniofacial changes described in previous reports of children with similar exposure. In addition, the 2 affected children had other craniofacial and skeletal abnormalities which have not been reported previously as teratogenic sequelae of VPA exposure. Many of the minor anomalies present in the 2 affected patients resemble those observed in rhesus monkeys exposed to VPA in utero. This suggests that the abnormalities observed in the 2 children may have been a consequence of intrauterine exposure to VPA.
Duplication of part of 9q due to maternal 12;9 inverted insertion associated with pyloric stenosis
Authors: Yamamoto Yoshifumi , Oguro Noriko , Nara Takahiro , Horita Hideki , Niitsu Naoki , Imaizumi Satohiko , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a 9‐month‐old boy who had duplication of the long arm of chromosome 9 [46,XY,−12,+der(12) inv ins (12;9)(p13;q32q13)mat.]. The clinical manifestations of the patient were different from those seen in distal 9q duplication. Pyloric stenosis appears to be common in cases with proximal 9q duplications.
Trisomy 18 with Cantrell pentalogy in a stillborn infant
Authors: Fox Joyce E. , Gloster Elizabeth S. , Mirchandani Raksha , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA 34‐week stillborn infant had omphalocele, agenesis of the sternum and anterior rib cage, membranous diaphragms with eventration of the viscera, ectopia cordis with absence of the pericardium, and congenital heart defect. These findings are consistent with a diagnosis of Cantrell pentalogy. The presence of bilateral clubfeet, spina bifida, hydrocephalus, abnormal ears, and horseshoe kidneys suggested a chromosome abnormality. Chromosome analysis showed trisomy 18. Individuals with manifestations of Cantrell pentalogy deserve cytogenetic evaluation.
Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: A new X‐linked mental retardation syndrome
Authors: Chudley Albert E. , Lowry R. Brian , Hoar David I. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a 3‐year‐old boy and his 2 maternal uncles with moderate to severe mental retardation, short stature, mild obesity, hypogonadism, a low total finger ridge count, and a distinctive face characterized by bitemporal narrowness, almond‐shaped palperbral fissures, depressed nasal bridge, anteverted nares, short and inverted‐V‐shaped upper lip, and macrostomia. Two other males in this family who had similar facial anomalies and developmental delay died in early infancy and midchildhood. This apparently new disorder is reminiscent of, but distinct from, the Prader‐Willi syndrome, and is likely inherited as an X‐linked recessive trait. Preliminary studies with DNA probes are consistent with an X‐linked locus and permit exclusion of distal Xp and Xq regions as the site of this mutation.
The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): Report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome
Authors: Moerman Philippe , Fryns Jean‐Pierre , Vandenberghe Kamiel , Devlieger Hugo , Lauweryns Joseph M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe 2 sibs with the syndrome of diaphragmatic hernia, abnormal face, and distal limb anomalies. Both infants died shortly after birth with severe respiratory distress. Postmortem examination showed gross internal anomalies: Dandy‐Walker malformation, ventricular septal defect, and renal cystic dysplasia. This combination of anomalies, also termed the Fryns syndrome, appears to be a distinct MCA syndrome with variable expression and probable autosomal recessive inheritance.Prenatal ultrasonographic diagnosis was successful in both patients.
Prevalence of dominant mutations in Spain: Effect of changes in maternal age distribution
Authors: Martínez‐Frías Maria L. , Herranz Inmaculada , Salvador Joaquin , Prieto Luis , Ramos‐Arroyo Maria A. , Rodríguez‐Pinilla Elvira , Cordero José F. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe studied the birth prevalence of autosomal dominant mutations in Spain and estimated how a decrease in maternal age distribution may lead to reduction in dominant mutations. The data were collected by the Estudio Colaborativo Español de Malformaciones Congénitas from April, 1976, to December, 1985. Among 553,270 liveborn infants monitored during the period, 66 infants with autosomal dominant conditions were identified. These included Apert, Crouzon, Hay‐Wells, Treacher‐Collins, Robinow, Stickler, Adams‐Oliver, and the blepharophimosis syndromes, achondroplasia, cleidocranial dysostosis, and thanatophoric dysplasia. The overall rate of autosomal dominant conditions was 1.2 per 10,000 liveborn infants. Thirteen (20%) had an affected relative, and 52 (79%) had a negative family history. One case was excluded because of insufficient family data. The rate of autosomal dominant mutations was 0.9 per 10,000 liveborn infants, or 47 per 1 million gametes. A reduction in the maternal age distribution of mothers age 35 years and older from the current 10.8% to 4.9%, as in Atlanta, Georgia, would reduce the rate of Down syndrome in Spain by 33% and through a change in parternal age distribution may lead to a reduction in dominant mutations of about 9.6%. This suggests that a public health campaign to reduce older maternal age distribution in Spain may also lead to a reduction in dominant mutations and emphasizes the potential that a direct campaign for fathers to complete their families before age 35 years may have a small, but measurable, effect in the primary prevention of dominant mutations.
Juvenile galactosialidosis in a white male: A new variant
Authors: Chitayat David , Applegarth Derek A. , Lewis Joyce , Dimmick James E. , McCormick Andrew Q. , Hall Judith G. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a 19‐year‐old white male with juvenile galactosialidosis. He presented with hip arthralgia and was found to have facial “coarseness,” corneal clouding, mitral and aortic insufficiency, and hepatosplenomegaly. Ultrastructural studies of skin biopsy and peripheral blood lymphocytes showed membrane‐bound inclusions containing sparse fibrillogranular material. Biochemical analysis showed elevated urinary sialyloligosaccharides and no free sialic acid. Fibroblast enzyme analysis showed low activities of both α‐neuraminidase and β‐galactosidase. To date, most patients with juvenile galactosialidosis have been Japanese. However, unlike those patients, our patient did not have macular cherry‐red spots, neurologic abnormalities, or mental retardation. We speculate that this young man represents a new subtype of juvenile galactosialidosis with a potentially different molecular defect from that of the Japanese variant.
Cerebellar infarction in a patient with Waardenburg syndrome
Authors: Narod Steven A. , Siegel‐Bartelt Jacqueline , Hoffman H. J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on the occurrence of a basilar artery embolism in a 9‐year‐old boy with Waardenburg syndrome type I. We examined eight other relatives and found that dystopia canthorum was present in six. One of these also had a lumbar meningomyelocele. According to descriptions provided by the grandmother of the propositus, nine other relatives were also affected.
Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism
Authors: Evans Mark I. , Zador Ivan E. , Qureshi Faisal , Budev Harish , Quigg Mary Helen , Nadler Henry L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIn a family at risk for Langer mesomelic dwarfism, we document the onset of disproportionate growth in the second trimester by sonographic biometry. Midt‐trimester pathologic correlation of this condition demonstrates primary changes in the growthplate in the regions of proliferating cartilage and hypertrophic and degenerative chondrocytes.
Direct chromosome analysis from neonatal cord blood
Authors: Day Donald W. , Jalal S. M. , Sinclair‐Worley Leslie , Kukolich Mary , Freeman Mahlon , Sakakini Joseph , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractDirect chromosome preparations of neonatal cord blood provides the unique opportunity for rapid chromosome analysis (turnaround time; 6 hr), without the necessity of bone marrow aspiration. Based on 42 samples we confirm the finding of Garnham and Sutherland [1987] for suitability of cord blood for direct chromosome preparation. Procedural modifications are provided for higher yield of cells for chromosome analysis. The procedure may well be of major significance for rapid diagnosis of neonates who suffer from aneusomy.
Prenatal diagnosis and the Canadian collaborative randomized trial of chorionic villi sampling: The physician's view
Authors: Fahy Mellisa J. , Lippman Abby , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWomen eligible for the Canadian randomized trial of chorionic villi sampling (CVS) often cite physician influence as a reason for refusing to participate. To measure directly physicians' attitudes to and knowledge of prenatal diagnosis (PND), amniocentesis, CVS, randomized trials, and the Canadian trial, a 3‐page questionnaire was mailed to all registered obstetricians in British Columbia (BC) and in Montreal (Mtl). The overall response rate was 70%. Most physicians thought PND was important and that it was their role to discuss and advise PND to their patients. Physicians were split in their preferences for amniocentesis or CVS (32% vs. 34%); reasons for their preferences paralleled those given by women studied previously by us. Physicians who thought CVS was too experimental, who were hesitant about the trial or who were less likely to discuss the study with patients were older, less likely to have participated in a randomized trial previously and less comfortable with randomization and discussing uncertain risks with patients. Mtl physicians were less aware and more hesitant about the Canadian trial than those in BC. Moreover, Mtl physicians were more likely to consider the ongoing trial inappropriate and too experimental than BC physicians. Because physicians act as “gatekeepers,” educating them about new technologies and about randomized studies is essential for ensuring both participant's access to a new procedure and success of the randomized trial.
Angular homeostasis V: Some issues in genetics, ontogeny, and evolution
Authors: Murphy E. A. , Berger K. R. , Trojak J. E. , Sagawa Y. , Opitz John M. 
Published: June 2005

AbstractWe discuss a provisional model that deals with aspects of normal control of the direction in which cells grow; hence, the organization of structure. The interacting issues of genetics, ontogeny, and phylogeny in relationship to normal development and its defects are addressed. Our main goal is to define a model with a small and sufficient set of conditions that would make it possible to undertake statistically efficient genetic studies of certain congenital defects. But to do so in plausible and heuristic terms, one must address two classical questions: (1) How is the genome translated (or sometimes mistranslated) into a phenotype that is clinically conspicuous and that can be the object of genetic selection, and hence of evolution? (2) Granted that evolution of species occurs in small, rare steps, what is the path that calls for the smallest number of mutations through which ontogenesis could have developed, the intermediate stages being conserved because of actual phenotypic advantage?
Duplication 8q24.2→qter and 15q14→pter resulting from a 3:1 meiotic segregation of a maternal reciprocal translocation
Authors: Kausch Katrin , Haaf Thomas , Schmid Michael , Neri Giovanni , Reynolds James F. 
Published: June 2005

AbstractWe report on a 16‐year‐old female with duplication 8q24.2 → qter and 15q14 → pter resulting from a 3:1 segregation of a maternal balanced reciprocal translocation. This mode of unbalanced segregation could be predicted from Pachytene‐diagram drawing. Most of her clinical manifestations can be related to the proximal 15q trisomy. To our knowledge there is only one previous report of a similar chromosome constitution.
Chromosome findings in twins with early‐onset autistic disorder
Authors: Wahlström Jan , Steffenburg Suzanne , Hellgren Lars , Gillberg Christopher , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIn a twin study of autistic disorder, chromosome analyses were carried out in nine pairs of monozygotic (MZ) twins, two pairs of dizygotic (DZ) twins, one set of MZ triplets, one single twin from a MZ pair, and seven single twins from DZ pairs. All but one of the MZ sets were concordant for autistic disorder; all DZ pairs were discordant. Fragile X(q)(27.3) was found in one pair of MZ twins and in MZ triplets, i.e., in 9% of the population with autistic disorder. A marker chromosome of unknown origin was detected in a male twin with autistic disorder from a discordant DZ pair.
Dysmorphogenesis of the mandible, zygoma, and middle ear ossicles in hemifacial microsomia and mandibulofacial dysostosis
Authors: Kay Elizabeth D. , Kay C. Neil , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA review of the anatomical changes in patients with various “first arch” syndromes shows that some anomalies (e.g., micrognathia, ear defects) generally appear together. This study tested the hypothesis that the mandible, zygomatic arch, and middle ear ossicles are a developmental field (i.e., when any of these structures is anomalous, the other two will be also). The hypothesis was tested using data from 25 patients with mandibulofacial dysostosis (MFD) and 40 patients with hemifacial microsomia (HFM).Analysis of the pooled data showed that the hypothesis of character association was generally supported. However, the medians suggested that different factors probably played a role in determining how these three anatomical structures were associated in MFD and HFM. Errors in chrondrogenesis may have been primarily responsible for the HFM phenotype. Alterations in Meckel and palatoquadrate cartilages would account for the size and shape changes observed in the ossicles and mandible, while changes in cranial base cartilages may explain the changes noted in the zygomatic arch. Since all three structures were equally affected in MFD, it is problematic to use an interference with chrondrogenesis as an explanation for the phenotype.We conclude that although the mandible, zygomatic arch, and middle ear ossicles appear to form a “developmental field,” the association between structures varies for HFM and MFD. The relatively lesser involvement of the zygomatic arch in HFM than in MFD suggests different pathogeneses for the two diagnostic groups and maybe a useful criterion for judging animal models of HFM.
De novo reciprocal 1p;2q translocation in a child with multiple congenital anomalies/mental retardation syndrome
Authors: Chitayat David , Fagerstrom Carrie L. , Kalousek Dagmar K. , Rootman Jack , Taylor Glenn P. , Hall Judith G. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA newborn male infant was found to have an unusual pattern of congenital anomalies associated with an apparently balanced de novo reciprocal translocation: 46,XY,t(1;2)(p22;q22). The infant had a previously apparently undescribed multiple congenital anomalies and mental retardation syndrome.
Common fragile sites in couples with recurrent spontaneous abortions
Authors: Schlegelberger Brigitte , Gripp Karen , Grote Werner , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractRecently, increased spontaneous chromosome instability was reported in couples with recurrent spontaneous abortions but without constitutional chromosome aberrations. Therefore, we investigated the frequency and distribution of aphidicolin‐induced common fragile sites in couples with recurrent spontaneous abortions and no children and in age‐related control couples. The breakage rate was significantly elevated in the abortion‐prone couples; the women in the abortion couples had an especially higher breakage rate than the control women. Breakpoints cluster to those chromosome regions where common fragile sites have been localized. No preference of a particular common fragile site was demonstrated in the abortion couples. Our findings appear to support the hypothesis of increased chromosome instability in at least some couples with recurrent spontaneous abortions. As long as the nature of aphidicolin‐induced common fragile sites is not completely understood, the significance of these findings remains unclear.
Two brothers with facial anomalies, microcephaly, hypoplastic genitalia, and a failure of psychomotor development
Authors: MacDermot K. D. , Winter R. M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on 2 brothers from a consanguineous Moslem family with prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and convulsions from birth. Phenotypic anomalies consisted of a prominent glabella, arched eyebrows, a low upswept frontal hairline, a small pinched nose, large posteriorly rotated ears with overfolded upper helices, partial camptodactyly, and widespaced nipples. Psychomotor development was absent, and there was marked failure to thrive. Death occurred at ages 21 days and 7 months, respectively. Postmortem examination on one child showed dilated cerebral ventricles and hydronephrosis. Microcephaly was detectable by fetal ultrasound in one brother at 17 weeks of gestation.
Ullrich‐Turner syndrome and anorexia nervosa
Authors: Ohzeki Takehiko , Hayashi Kazuyo , Higurashi Makoto , Hanaki Keiichi , Ishitani Nobuo , Shiraki Kazuo , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a 6‐year‐old girl with Ullrich‐Turner syndrome and anorexia nervosa. The diagnosis was made at 6 years and she became anorectic at 14 years. She had been treated with low doses of estrogen just before the onset of anorexia. In spite of remarkable decrease in food intake, her body weight was in the normal range compared to standard weight. Rohrer indices were also normal, probably due to abnormal habitus in individuals with the syndrome. The pathogenetic relationship between this disorder and the hormone treatment in the onset of anorexia nervosa is discussed.
Interstitial deletion of chromosome 22 in a patient with the DiGeorge malformation sequence
Authors: Mascarello J. T. , Bastian J. F. , Jones M. C. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a chromosome 22 deletion in a patient with the DiGeorge malformation sequence as manifested by an interrupted aortic arch, mild thymic hypoplasia, and minor craniofacial anomalies. Although others have reported DiGeorge sequence patients with deletions derived from unbalanced translocations involving the chromosome 22 long arm, the small interstitial deletion described here appears to be unusual for patients with this disorder.
X‐linked cutaneous amyloidosis: Further clinical and pathological observations
Authors: Partington M. W. , Prentice R. S. A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA 10‐year follow‐up of a family with X‐linked cutaneous amyloidosis confirmed no more than streaks or spots of brown pigmentation of the skin in females but much more varied and severe manifestations in males. These included neonatal colitis, infantile diarrhea, recurrent respiratory infections, corneal dystrophy, photophobia, unruly hair with a frontal upsweep, dry skin, and mottled, muddy‐brown pigmentation seen first on the inner thighs and spreading diffusely to the buttocks, trunk, and arms. Amyloid was found in the pigmented skin of adults of both sexes but not in children.An autopsy of a 50‐year‐old man, subject to recurrent pneumonia, confirmed the presence of amyloid in the skin, but it was not found in other organs. Changes in the lungs were those of late‐stage diffuse pulmonary fibrosis.The pattern of inheritance is X‐linked, but the pathogenesis remains obscure.
Renal tubular dysgenesis: Delayed onset of oligohydramnios
Authors: Swinford Ann E. , Bernstein Jay , Toriello Helga V. , Higgins James V. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo premature sibs had Potter sequence and died of respiratory failure within the first day. Ultrasonography at 26 weeks during the earlier of the two pregnancies showed complete absence of amniotic fluid, and the urinary bladder was not visualized. Ultrasound examinations during the second pregnancy showed adequate amniotic fluid at 16 and 20 weeks, with a subsequent reduction in fluid volume. Two older sibs had also died of respiratory failure shortly after birth. Postmortem histopathologic studies showed all four sibs to have severely deficient renal tubular development. However, the presence of numerous glomeruli indicated prolific nephrogenesis. Most of the tubules in sections of cortex had the lectin‐binding and immunohistochemical characteristics of collecting ducts; proximal tubules were not identified by lectin‐binding. Electron‐microscopic examination showed a general absence of differentiated characteristics in cortical tubular epithelium, except that rare tubules contained rudimentary proximal tubular brush borders. Three of the sibs were boys, one a girl. The three children that were studied had normal chromosomes. Two unaffected sibs are alive and well. Neither parent has any clinical evidence of renal disease. These studies support the interpretation that renal tubular dysgenesis is autosomal recessive with pleiotropy. However, the relatively late appearance of oligohydramnios makes early diagnosis difficult, even when the condition is suspected.
A girl with the Pitt‐Rogers‐Danks syndrome
Authors: Oorthuys J. W. E. , Bleeker‐Wagemakers E. M. , Neri Giovanni , Reynolds James F. 
Published: June 2005

AbstractA severely mentally retarded girl is presented, with symptoms as described by Pitt, Rogers, and Danks (pre‐ and postnatal growth retardation, and unusual facies). Additional manifestations are glaucoma, pre‐auricular pits, and an atrial septal defect.