bluuebunny/crossref_metadata_2025_split huggingface dataset:
Kaufman syndrome (hydrometrocolpos, polydactyly, and congenital heart disease) with pituitary dysplasia, choanal atresia, and vertebral anomalies
Authors: Knowles John C. , Brandt Ira K. , Bull Marilyn J. , Opitz John M. 
Published: June 2005

AbstractAn infant was found to have the previously known manifestations of the Kaufman syndrome (hydrometrocolpos, postaxial polydactyly, and congenital heart disease) but also imperforate anus, malrotation of gut, congenital hip dislocation, and urogenital sinus. All of these anomalies have been separately reported in other cases of the syndrome. Three previously unreported problems present in this case were choanal atresia, pituitary dysplasia, and vertebral anomalies; these may well be component manifestations of the syndrome and not sporadic occurrences in our patient. Of particular clinical importance were the hypoglycemia and the hypoglucocorticism secondary to the pituitary dysplasia.
Dermatoglyphics in medicine—problems and use in suspected chromosome abnormalities
Authors: Reed Terry , Opitz John M. 
Published: June 2005

AbstractDermatoglyphic findings in patients with chromosome abnormalities are reviewed including the more common aneuploidies and recently recognized deficiency and duplication syndromes. Tables of dermatoglyphic changes are provided to help in the diagnosis of patients with suspected chromosome abnormalities. Finally, problems of dermatoglyphic nomenclature and statistics are considered. It is emphasized that dermatoglyphics should be used in conjunction with the physical examination rather than as an independent diagnostic test.
Holoprosencephaly in monozygotic twins – clinical and computer tomographic findings
Authors: Burck Uta , Hayek Hubert W. , Zeidler Udo , Opitz John M. 
Published: June 2005

AbstractOf monozygotic male twins with holoprosencephaly, one showed by computer tomographic (CAT) scan a mild type with orbital hypotelorism, flat nose, bilateral cleft lip, and cleft palate associated with an intermaxillary rubital hypotelorism, flat nose, absent nasal bridge, and median cleft lip.Lymphocyte chromosomes were apparently normal.A review of the literature shows a heterogenous patient material in that most pertinent cases involved dizygotic twins, and some of these presumably had chromosome abnormalties.
Developmental screening tests in achondroplastic children
Authors: Todorov A. B. , Scott C. I. , Warren A. E. , Leeper J. D. , Opitz John M. 
Published: June 2005

AbstractData on psychomotor de development are compiled on 197 achondroplastic children. The data are plotted in a manner similar to that used in the Denver Developmental Screening Test. Gross motor development is delayed in achondroplastic children as compared to children of approriate age. There is no difference in language development.
Polymorphic variants in human chromosome 15
Authors: Chen T. R. , Kao M. L. , Marks J. , Chen Y. Y. , Opitz John M. 
Published: June 2005

AbstractWe found eight polymorphic variants in human chromosome 15 using Q, C, Q‐C and Ag‐NOR staining methods. These variants included brightly or dully fluorescent pericentric segments and satellites, giant satellites, increased amounts of short arm heterochromatin (ph+) and darkly (C band‐positive) or lightly (C band‐negative) Giemsa‐stained pericentric Q‐negative segments. These staining properties indicated that the entire short arm of 15 contained at least four distinct chromatin segments: Q‐negative centrometric heterochromatin, a Q‐vriable distal segment, a Q‐negative satellite stalk, and Q‐variable satellites, in that order, from proximal to distal ends. The Brd U‐Hoechst 33258‐stained R bands (RBH) and high resolution G subbands were also studied for karyologic characterization of chromosome 15. Most of these variants were reported also in 13, but insufficiently documented in other D and G chromosomes. Together with polymorphic pericentric fluorochromes seen in 3 and 4, Yq, and nonpathogenic t(D;Yq), the pattern of these variants can be used as karyologic fingerprints for identification of each individual and his or her cell explants both in vivo and in vitro.
Spectrum of anomalies in the Meckel syndrome, or: “Maybe there is a malformation syndrome with at least one constant anomaly”
Authors: Fraser F. Clarke , Lytwyn Alice , Opitz John M. 
Published: June 2005

AbstractThe Meckel syndrome coimparises a variety of defects including the classical triad of occipital encephalocele, cystic kidneys, and poly dactyly. The frequencies of the various defects are more accurately represented in the affected sibs of probands than in the probands themselves, since the latter are selected according to severity and preconceived notions of what constitutes the syndrome. In a series of 38 such sibs, all had cystic dysplasia of the kindney, 63% had an occipital meningocele, 55% had polydactyly, and 18% had no reported brain malformation. In families in which the proband had the classical triad, only 68% of the affected sibs had it. It is concluded that the diagnosis of Meckel syndrome may not be valid in the absence of cystic kidney dysplasia. In babies with encephalocele or anencephaly, pathologic examination, particularly of the kidneys, is important in determining risk of recurrence. This approach to estimating the variability of a syndrome might profitably be extended to other genetically determined pleiotropic conditions.
Some considerations bearing on the doctrine of self‐fulfilling prophecy in sex chromosome aneuploidy
Authors: Puck Mary H. , Herrmann Jürgen 
Published: June 2005

AbstractThe doctrine of self‐fulfilling prophecy has been invoked in studies of the effects of sex chromosome aneuploidy on human development as a reason for routine concealment of the diagnosis from affected children and their families. It has been assumed that knowledge of the existence of risk for deviance from normal development automatically creates a self‐defeating emotional climate. This communication attempts to delineate both advantageous and deleterious aspects of self‐fulfilling prophecy in the medical management of sex chromosome aneuploidy, presents an alternative approach, and reviews the experience in a prospective study of 52 families where a policy of disclosure was followed.
The Gordon syndrome: Autosomal dominant cleft palate, camptodactyly, and club feet
Authors: Robinow Meinhard , Johnson G. Frank , Opitz John M. 
Published: June 2005

AbstractThe triad of camptodactyly, club feet, and cleft palate, called the Gordon syndrome, is a rare autosomal dominant trait with variable expressivity, known from only three previously described families. Here we report the condition in a mother and her daughter. They also had several previously undescribed anomalies, which suggests that the Gordon syndrome is a more complex malformation syndrome than previously suspected.
Hypospadias: An epidemiological study in Latin America
Authors: Neto Roque Monteleone , Castilla Eduardo E. , Paz Joaquin E. , Opitz John M. 
Published: June 2005

AbstractEpidemiological variables in relation to hypospadias were analyzed in a case‐control study of a liveborn population from six Latin American countries. The frequency of hypospadias was 7.6 per 10,000 livebirths (324/423,839). The cases were divided into three types: distal (72%), proximal (18.5%) and non‐specified cases (9.5%). The control group consisted of the first nonmalformed child born after each of the patients and was matched by sex, place, and time of birth. Other coexisting malformations were found in 13.6% of cases. The Brazilian sample showed the highest incidence rate (17.7/10,000) and also the highest incidence of severe forms (5.0/10,000) as compared with the other countries.A circannual rhythm was detected using several different statistical procedures. Low mean birth weight, twinning, vaginal bleeding, and drug exposure during the 1st trimester (particularly sex hormones) were found to be risk factors. The more severe forms had a higher neonatal mortality rate and higher inbreeding when compared with the controls or milder forms. The heritability coefficient was 0.6772 ± 0.0675. The possible role of maternal sex hormone intake and disturbances of human chorionic gonadotropin during the first trimester are discussed.
A comprehensive scoring system for evaluating noonan syndrome
Authors: Duncan W. J. , Fowler R. S. , Farkas L. G. , Ross R. B. , Wright A. W. , Bloom K. R. , Huot D. J. , Sondheimer H. M. , Rowe R. D. , Opitz John M. 
Published: June 2005

AbstractA multidisciplinary team assessed 23 patients with various manifestations of the Noonan syndrome, including pulmonary valve stenosis (with leaflet dysplasia), “typical” facial appearance (including hypertelorism, epicanthic folds, flat nasal bridge, and apparently low‐set ears), short stature, and mental retardation. Seven patients had a family history of the syndrome. A comprehensive scoring system was devised on the basis of frequency and severity of manifestations and results of invasive and noninvasive tests in these patients and those reported in the literature. The scoring system was condensed into a score card for clinical use and validated by “blind” application to patients with isolated pulmonary valve stenosis or suspected Noonan syndrome. Use of a scoring system to diagnose a syndrome for which there is no specific diagnostic test facilitates accuracy and decreases observer bias. In the case of unusual congenital disorders it is particularly valuable for a pediatrician in general practice.
Amniocyte clones for prenatal cytogenetics
Authors: Hecht F. , Peakman D. C. , Kaiser‐McCaw B. , Robinson A. 
Published: June 2005

AbstractAmniotic fluid cells were processed in situ on coverslips in 1,429 consecutive cases from Colorado and Arizona. Two true chromosome mosaics were differentiated from 39 pseudomosaics with clarity by the method described here in detail. The culture failure rate was 1–2% and the error rate was 0% in both laboratories. The time in culture prior to the initial harvest for the last 329 cases was 8.7 days.
Genetic counseling: A comparison of counselee's genetic knowledge before and after (part III)
Authors: Seidenfeld M. J. , Antley R. M. , Opitz John M. 
Published: June 2005

AbstractForty‐seven mothers of children with Down syndrome were evaluated on their knowledge of genetic facts pertaining to Down syndrome. We found that more knowledge of this disorder was acquired by counselees before counseling than from the counseling. The data show that counseling is most effective in enhancing counselees' knowledge of general genetics, ie, the origin of the extra chromosome in a child with Down syndrome. In contrast, counselees had the most difficulty in learning the recurrence risks for others, including the risks for relatives, siblings, and the population in general.A finding of practical importance is that formal education is inversely related to the amount of information counselees learned from counseling. Mothers with less than a high school education acquired most of their genetic knowledge from counseling, while those with more than a high school education acquired most of this information before counseling.
The dup(3q) syndrome: Report of eight cases and review of the literature
Authors: Steinbach P. , Adkins W. N. , Caspar H. , Dumars K. W. , Gebauer J. , Gilbert E. F. , Grimm T. , Habedank M. , Hansmann I. , Herrmann J. , Kaveggia E. G. , Langenbeck U. , Meisner L. F. , Najafzadeh T. M. , Opitz J. M. , Palmer C. G. , Peters H. H. , Scholz W. , Tavares A. S. , Wiedeking C. , Opitz John M. 
Published: June 2005

AbstractClinical and cytogenetic examinations were performed on eight unrelated infants with duplication of part of the long arm of chromosome 3. A review of published cases shows a clinical syndrome characterized by statomotoric retardation, shortened life span, and a multiple congenital anomalies (MCA) syndrome of abnormal head configuration, hypertrichosis, hypertelorism, ocular anomalies, anteverted nostrils, long philtrum, maxillary prognathia, down turned corners of the mouth, highly arched or cleft palate, micrognathia, malformed auricles, short, webbed neck, clinodactly, simian crease, talipes, and congenital heart disease. The dup(3q) syndrome is a clinically easily recognizably entity.
Corticosteroid‐induced cleft lip in mice: A teratologic, topographic, and histologic investigation
Authors: Melnick Michael , Jaskoll Tina , Slavkin Harold C. , Opitz John M. 
Published: June 2005

AbstractUnlike cleft palate, relatively few teratogens have been found to induce cleft lip in mice. The present study was designed to assess the teratologic, topographic (SEM), and histologic effects on lip morphogenesis following the administration of triamcinolone hexacetonide on the eighth day of gestation. The frequency of cleft lip in treated A/J mice was found to be more than three times greater than the spontaneous frequency in untreated controls. Comparable studies with other murine strains suggest no association between the cleft lip response and either a maternal effect or the H‐2 complex. Affected A/J embryos showed a severe reduction in the size of the lateral nasal processes; affected embryos also demonstrated localized cell type‐specific alterations, particularly in the epithelia and at the interface between epithelium and mesenchyme.
A 49,XXXYY male
Authors: Salamanca‐Gòmez Fabio , Cortès Richardo , Sànchez Josefina , Armendares Salvador , Opitz John M. 
Published: June 2005

AbstractIn a 29‐year‐old male with severe mental retardation, hypogenitalism, and congenital malformations we identified a 49,XXXYY chromosome constitution by Q, G, and C banding techniques. The clinical, cytogenetic, and endocrine findings are discussed and compared with those of the two previously described cases with this sex chromosome anomaly in an attempt to begin delineation of the condition.
Failure to demonstrate an effect of in vivo diagnostic ultrasound on sister chromatid exchange frequency in amniotic fluid cells
Authors: Lundberg Max , Jerominski Leslie , Livingston Gordon , Kochenour Neil , Lee Timothy , Fineman Robert , Opitz John M. 
Published: June 2005

AbstractAntepartum use of diagnostic ultrasound has markedly reduced radiation exposure of the fetus. Previous investigations have documented the safety of ultrasound, but concern persists regarding its long‐term effects. As new methods become available to study possible subtle effects of ultrasound, it is important to reevaluate this technique continually because of its universal use in obstetrics and elsewhere. We report results of in vivo studies of effect of diagnostic ultrasound on the sister chromatid exchange (SCE) frequency in amniotic fluid cells. SCE is a cytogenetic phenomenon believed to be a sensitive indicator of environmental perturbations and chromosome stability. In amniotic fluid cells from six pregnancies without ultrasound exposure and in 34 pregnancies that received varying amount of ultrasound immediately before amniocentesis, there was no difference in SCE frequency in exposed versus nonexposed cells. These data, which appear to confirm again the safety of ultrasound, are reassuring to both patients and clinicians.
Prenatal diagnosis in 3,000 women for chromosome, X‐linked, and metabolic disorders
Authors: Daniel Art , Stewart Lesley , Saville Toni , Brookwell Ross , Paull Helen , Purvis‐Smith Stuart , Lam‐Po‐Tang P. R. L. C. , Jacobs Patricia , Hsu Lillian 
Published: June 2005

AbstractIn 3,000 women referred for prenatal diagnosis, 110 (3.7%) abnormal fetuses were detected and 85 therapeutic terminations were performed. There were five main reasons for referral. Among the 2,227 women referred because of maternal age 35 years and older, there were 51 (2.3%) who had aneuploid fetuses. In the 297 women referred because of a previous child with Down syndrome, 3 aneuploid fetuses (1.0%) were detected. Of the 55 couples where one spouse was a carrier of a balanced chromosome rearrangement, 6 chromosomally abnormal fetuses were found (10.9%) (all the offspring of maternal carriers). In the latter group, five of the six heterozygotes with abnormal findings were carriers of tdic (13;21) translocations. In the 82 cases with a history of X‐linked disorders, there were 40 males (49%). Thirty‐five women were referred because of inborn errors of metabolism: 10 affected fetuses were found (28%). There was a greater proportion of sexchromosome aneuploids as compared to trisomy 21 fetuses in the 35 to 39 year maternal age group. This was reversed in the group of women 40 years old and older. Of the 25 abnormal fetuses not terminated, 6 were sex chromosome aneuploids and 10 involved X‐linked conditions where the progeny could be further prenatally monitored (eg, X‐linked hydrocephalus) or treated (eg, hemophilia). In the remaining 9 the parents expressed diverse reasons for their choice. Repeat amniocentesis was required in 2.9% of cases. One case of maternal cell contamination and one case of unconfirmed mosaicism were the only diagnostic errors found in the study. In the last 1,000 specimens referred, the average time necessary for a karyotypic result was 15.6 ± 5.6 days after amniocentesis.
Presence of H‐Y antigen in patients with ullrich‐Turner syndrome and X‐chromosome rearrangements
Authors: Haseltine Florence P. , Deponte Kathleen K. , Breg W. Roy , Genel Myron , Opitz John M. 
Published: June 2005

AbstractCells from eight of ten patients with gonadal dysgenesis and an isochromosome for the long arm of X, (i(Xq)), have been found to be H‐Y antigen‐positive, using an assay that employs rat antiserum and Raji cells. In addition, two patients with del(Xq) were also found to be H‐Y antigen‐positive, whereas four patients in whom only a 45,X line was detected were H‐Y antigen‐negative. These findings suggest that the X chromosome plays a role in the expression of H‐Y antigen in the absence of a Y chromosome. Since our patients with i(Xq) show no evidence of testicular differentiation, it is clear that there is not enough H‐Y antigen on these patients' cells to direct the development of a testis. These findings are consistent with the view that the normal functioning of genes on the X and the Y chromosomes is necessary for testicular organogenesis to occur.
Familial cavernous angiomas: Natural history and genetic study over a 5‐year period
Authors: Hayman L. Anne , Evans Robert A. , Ferrell Robert E. , Fahr Linda M. , Ostrow Peter , Riccardi Vincent M. 
Published: June 2005

AbstractIn a kindred of 122 individuals we found 5 individuals with cerebral vascular malformation, 3 representing typical cavernous angiomas. The condition was inherited as an autosomal dominant trait with variable expressivity. Forty‐three relatives were examined prospectively by cranial computed tomography (CCT) and lesions were found in 15; 7 were followed prospectively with CCT scans for 5 years. Angiography in 5 of these cases failed to demonstrate the lesion. In 3 patients with previously normal CCT scans a change in blood volume or membrane permeability allowed visualization of the lesion on contrast scans. In 2 individuals, both parents of affected children, a normal CCT scan was found. This emphasizes the limitations of CCT in detecting this disorder. Biochemical and red blood cell immunological genetic linkage studies were done in 36 persons. No linkage was found with any of the markers. The natural history of this disorder, characterized by marked clinical and radiographic variation in site of lesion, and the timing and severity of intracranial hemorrhage, make it a useful model for investigating contributing factors and consequences of intracranial hemorrhage in general. For atrisk and affected patients early and sequential CCTs are necessary. Familial cavernous angioma should be included in the differential diagnosis of all young persons presenting with cerebrovascular impairment, seizures, intracranial calcifications or hemorrhage.
Meiotic segregation in familial reciprocal translocation t(8q;22q)
Authors: Gödde‐Salz Elisabeth , Oesinghaus Susanne , Grote Werner , Opitz John M. 
Published: June 2005

AbstractWe studied the chromosomes of a mentally retarded boy with minor anomalies and of his parents using a G‐band stained high‐resolution chromosome method. This documented dup (8q24.1 → 8qter) and dup(22pter → 22q11.2) in the boy due to a maternal balanced reciprocal translocation of chromosomes 8 and 22 and 3:1 disjunction during meiosis I. The karyotype of the boy is 47, XY, + der(22) (22pter → 22q11.2::8q24.1 → 8qter). The der(22) was involved in satellite associations and stained positively with AgNO3 in mother and child. The case is compared to similar cases in the literature and the function of the small acrocentric marker chromosome during meiosis is discussed.
The neurofaciodigitorenal (NFDR) syndrome
Authors: Freire‐Maia Newton , Pinheiro Marta , Opitz John M. , Herrmann Jürgen 
Published: June 2005

AbstractWe describe in two brothers a previously apparently unreported multiple congenital anomalies/mental retardation (MCA/MR) syndrome of high, prominent forehead, vertical groove on tip of nose, “cowlick,” ear anomalies, acrorenal field defect (incipient unilateral triphalangism, broad halluces, with unilateral renal agenesis in one of the boys), megalencephaly associated with congenital hypotonia, severe mental retardation and highly abnormal EEG without seizures, intrauterine growth retardation and primordial shortness of stature in one brother. This is a Group III (“provisionally private”) MCA/MR syndrome and presumed to be due to a Mendelian (either X‐linked or autosomal recessive) mutation. We do not think these patients have the FG syndrome. The condition has been named the neurofaciodigitorenal (NFDR) syndrome.
Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: A new syndrome with dominant transmission
Authors: Lee W. K. , Root A. W. , Fenske N. , Opitz John M. 
Published: June 2005

AbstractA mother and son with bilateral branchial sinuses, intrauterine and postnatal growth retardation, unusual facial appearance, and premature aging in the mother are reported. No other members of the family are similarly affected. No hormonal or systemic cause of growth retardation was identified. Chromosomal studies with G‐banding were normal. It is suggested that this syndrome is a dominant trait, the mother being the initial mutant.
Collagen synthesis by duchenne myogenic clones: Pathogenic implications for the disease
Authors: Ionasescu V. , Ionasescu R. , Massimini G. , Sandra A. , Opitz John M. 
Published: June 2005

AbstractMyogenic cell clones were grown in triplicates from a 3‐year‐old boy with Duchenne muscular dystrophy and three normal control boys matched for age. The well‐differentiated Duchenne myogenic clone had lower creatine kinase activity and lower MM isozyme than the control clones. Analysis of (3H)‐proline incorporation demonstrated a 2.2‐fold increase in (3H)‐hydroxyproline released into the medium of Duchenne myogenic cell clones, whereas intracellular (3H)‐hydroxyproline levels showed normal values. These results strongly suggest that the increased amount of collagen present in Duchenne dystrophic muscle is related to the primary defect of the disease and is not due to a secondary replacement fibrosis.
Upper limb involvement in the Klein‐Waardenburg syndrome
Authors: Goodman Richard M. , Lewithal Ilana , Solomon Albert , Klein David , Optiz John M. 
Published: June 2005

AbstractUpper limb involvement in the Klein‐Waardenburg (K‐W) syndrome is documented in two affected sibs and in four other previously reported patients. In addition to the key facial and auditory findings observed in the Waardenburg syndrome type I, these patients have such bilateral upper limb defects as hypoplasia of the musculoskeletal system, flexion contractures, fusion of the carpal bones, and syndactyly. The cause of the K‐W syndrome is not known although there is some evidence for autosomal dominant inheritance, but further documentation is needed before this can be considered conclusive.