bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hirschsprung disease in the offspring of mothers exposed to hyperthermia during pregnancy
Authors: Lipson Anthony , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractInterview data for events of pregnancy on 40 infants with Hirschsprung disease showed a significant relationship to a history of hyperthermia in the mother in the first trimester, during the time of embryonic development and migration of ganglion cells along the intestine. In order to eliminate maternal recall bias, a control group consisted of 41 malformed infants with congenital limb deficiency. Hyperthermia may be one factor contributing to the cause of some cases of Hirschsprung disease.
Skeletal anomalies in trisomy 21 as an example of amplified developmental instability in chromosome disorders: Histological study of the feet of 21 mid‐trimester fetuses with trisomy 21
Authors: Blum‐Hoffmann Ellen , Rehder Helga , Langenbeck Ulrich , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractIn a previous radiographic study on the feet of 71 adults with trisomy 12 we found, in comparisn to control individuals, an increased prevalence of biphalangeal toes and metatarsophalangeal sesamoid bones. The present histological study on the feet of 21 mid‐trimester fetuses with prenatally diagonosed trisomy 21 confirms results of the earlier study. At both stages of development these minor bone anomalies have about the same frequency, thus suggesting 1) that they are selectively neutral, and 2) that they reflect a basic (innate) failure of ordered morphogenesis. Our observation that the normal spatial pattern skeletal variants is reproduced in trisomy 21 simply on a quantitavely higher level lends sound support to the hopothesis of amplified developmental instability in chromosome trisomies.
Duplication 11q and deletion 5p syndromes due to a reciprocal translocation segregating in four generations
Authors: Mutchinick Osvaldo , Ramos Zarina , Sánchez Francisco , Ruz Lizbeth , Lisker Rubén , Ovseyevitz Jacobo , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on 2 relatives with duplication 11q and deletion 5p, resulting from an adjacent‐1 segregation of a balanced reciprocal translocation 5pl5;11q23, segregating in 4 generations of this family. Twelve out of 16 at‐risk relatives of inheriting the translocation were shown to be carriers, giving a significant (p <.05) 3:1 ratio of carriers/noncarriers. The breakpoint on chromosome 11 at q23 is a folate sensitive fragile site into where the proto‐oncogene c‐ets has been mapped.
Noonan Syndrome: Partial factor XI deficiency
Authors: de Haan M. , Kamp J. J. P. v. d. , Briët E. , Dubbeldam J. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractAmong the multiple extracardiac abnormalities seen in the Noonan syndrome, several authors have mentioned an unexplained bleeding tendency. In 1983 Kitchens and Alexander reported on a partial deficiency of coagulation factor XI in four patients with Noonan syndrome. We examined 9 patients with Noonan syndrome and 9 of their 18 parents (3 of them also had Noonan syndrome). Four Noonan patients were found to have a partial deficiency of factor XI (30–65%). The Noonan patients had a mean factor XI level of 67%, significantly lower than the normal parents (mean level of 109%). Our study suggests a relationship between Noonan syndrome and a partial deficiency of factor XI.
Heterochrony and human malformation
Authors: Wilson Golder N. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractThe role of altered developmental timing or heterochrony in morphologic evolution has intrigued classical and modern biologists. Analogous manifestations of developmental asynchrony occur in human dysmorphogenesis where they illustrate the residue and repertoire of phylogenetic change. Certain single malformations such as holoprosencephaly immediately suggest heterochrony by their resemblance to antecedent phylogenetic or embryologic structures. Multiple malformation syndromes of genetic, chromosomal, or teratogenic etiology may have altered developmental timing as an underlying theme. The persisting alpha‐fetoprotein synthesis in ataxia‐telangiectasia, the morphologic atavisms in Down or trisomy 13 syndromes, and the delayed growth or fetal to adult hemoglobin switch in diabetic embryopathy all exemplify developmental asynchrony. The perspective of heterochrony stresses the molecular history and hierarchy which is recapitulated with each pregnancy, and reconciles apparent discrepancies between the rates of molecular and morphologic evolution. Recognition of heterochrony places isolated anomalies in the context of pattern and suggests monitoring of teratogenesis through altered expression of ontogenetically regulated, phylogenetically relevant molecules.
Pressure, biochemical, and culture characteristics of CSF associated with the in utero drainage of various fetal CNS defects
Authors: Simpson Gary F. , Edwards Michael S. B. , Callen Peter , Filly Roy F. , Anderson Robert L. , Golbus Mitchell S. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractAn attempt has been made to begin delineation of the in utero dynamics of fetal intracranial fluid in the presence of brain malformations. In a series of patients with fetal CNS defects, cephalocentesis was performed at the time of therapeutic abortion or to facilitate vaginal delivery. Intracranial CSF pressures and volumes were quite variable. There did not appear to be any discernible correlation between the type of lesion and the intracranial pressure. Fetal CSF glucose levels were moderately depressed and protein concentrations were very high. Neither virus nor bacteria were cultured from fetal CSF or amniotic fluid of any patients in this series.
Rett syndrome: Abnormal membrane‐bound lamellated inclusions in neurons and oligodendroglia
Authors: Papadimitriou John M. , Hockey Athel , Tan Noel , Masters Colin L. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractThe brain biopsy of a patient with Rett syndrome showed light microscopic evidence of white matter disease. Ultrastructurally, many neurons and oligodendroglia contained membrane‐bound electron‐dense inclusions with a distinct lamellar and granular substructure. This substructure suggests that part of these inclusions are derived from phospholipid. If confirmed in other cases of Rett syndrome, the neurochemical study of these inclusions may contribute to an understanding of this disorder.
Congenital optic atrophy and brachytelephalangy: The Berk‐Tabatznik syndrome
Authors: Hartwell Elizabeth A. , Robinson Luther K. , Robinson Lawrence H. , Aceves Javier , Reynolds James F. 
Published: June 2005

AbstractHere we report on a prepubertal boy with the Berk‐Tabatznik syndrome. Manifestations included short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges. Prognosis was adversely affected by visual and auditory difficulties. The cause of this condition remains unknown.
Hydrocephalus in asphyxiating thoracic dystrophy
Authors: Singh Meharban , Ray D. , Paul V. K. , Kumar Arun , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe document four patients, including two sibs, with asphyxiating thoracic dystrophy and mild congenital hydrocephalus. All infants were males; three had postaxial polydactyly. The CT scan of brain showed moderate dilatation of the lateral ventricles in all cases. This appears to be the first documentation of apparent hydrocephalus in this condition.
Monozygotic twins concordant for probable Alzheimer disease and increased platelet membrane fluidity
Authors: Zubenko George S. , Ferrell Robert E. , Reynolds James F. 
Published: June 2005

AbstractThis report describes monozygotic twins who were concordant for probable Alzheimer disease, as defined by currently‐accepted clinical criteria. Monozygosity was established by blood typing. Their ages of symptomatic onset were 57 and 66 yr, and the times from onset to institutionalization were 8 and 2 yr, respectively. These results suggest that age at onset and rate of progression are clinical features that can be affected by random processes or exposure to environmental factors. The platelet membrane fluidity of both twins was abnormally increased, and the respective values were identical within experimental limits. This result is consistent with published data suggesting that increased platelet membrane fluidity is associated with a clinically distinct subtype of Alzheimer disease and that this platelet membrane characteristic may be genetically determined.
Marfan Syndrome: Exclusion of genetic linkage to three major collagen genes
Authors: Francomano Clair A. , Streeten Elizabeth A. , Meyers Deborah A. , Pyeritz Reed E. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractThe Marfan syndrome is an autosomal dominant connective tissue disorder with pleiotropic manifestations affecting skeletal, ocular and cardiovascular systems. Because the fibrillar collagens are major structural components of connective tissue, the hypothesis has long been set forth that the Marfan syndrome is a disorder of fibrillar collagen. We have investigated this hypothesis by performing linkage studies in 12 multiplex families with the Marfan syndrome, using restriction fragment length polymorphisms (RFLP's) associated with 3 genes encoding chains of fibrillar collagens. The data exclude linkage to all 3 candidate genes in 2 families and at least 1 of the candidates is excluded in 6 additional families. Each candidate was excluded in at least 3 families. In no case was strong evidence in favor of linkage of the Marfan syndrome to any of the 3 genes observed. These data speak against the hypothesis that mutations in one or more of these 3 fibrillar collagens cause the classic Marfan syndrome.
Facial midline defect in the fetal alcohol syndrome. Embryogenetic considerations in two clinical cases
Authors: Neri G. , Sammito V. , Romano C. , Sanfilippo S. , Opitz J. M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two unrelated patients with fetal alcohol syndrome with hypoplasia of the periocular region, resulting in a low and narrow forehead and hypotelorism. Other typical manifestations of the syndrome involving the facial midline are also present. These observations can be added to clinical and experimental evidence from other authors, supporting the concept that the facial anomalies of the fetal alcohol syndrome are the expression of a midline defect originating from the disruption of the ordered development of midline mesoderm cells during early embryogenesis.
Monozygotic turner syndrome twins—correlation of phenotype severity and heart defect
Authors: Lin Angela E. , Garver Kenneth L. , Reynolds James F. 
Published: June 2005

AbstractWe report on monozygotic twins with Turner syndrome (45,X) with discordant phenotypes. One twin had severe neck webbing and extremity edema and died of severe coarctation of the aorta. The other twin had fewer craniofacial anomalies and no congenital heart defect, suggesting a pathogenetic relationship between cardiac abnormality and phenotype severity.
Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome
Authors: Davies K. E. , Patterson M. N. , Kenwrick S. J. , Bell M. V. , Sloan H. R. , Westman J. A. , Elsas L. J. , Mahan J. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have studied patients with Duchenne muscular dystrophy (DMD), DMD together with glycerol kinase (GK) deficiency, or DMD together with both GK deficiency and congenital adrenal hypoplasia (AHC). Analysis of deletions in these patients allows the mapping of these mutations in Xp21. The following order is proposed: Xpter – L1 – AHC – GK – DMD – Xcen. One of the boys with DMD, GK, and AHC is shown by pulsed‐field‐gel electrophoresis to have a deletion which has a proximal endpoint at least 500 kb distal from the pERT87 (DXS164) locus.
The Weismann‐Netter syndrome
Authors: Robinow Meinhard , Johnson G. Frank , Optiz John M. 
Published: June 2005

AbstractThe Weismann‐Netter syndrome is a rare, heritable dysplasia of anterior bowing of tibiae and fibulae, often with lateral bowing of femora, short stature, and mild mental retardation. The condition is probably due to a primary metabolic abnormality of bone. The disease process is inactive in the adult. The pathogenesis is unknown. The patient reported here is the only child described in the Anglo‐American literature.
Polyostotic fibrous dysplasia with cranial hyperostosis: New entity or most severe form of polyostotic fibrous dysplasia?
Authors: Viljoen D. L. , Versfeld G. A. , Losken W. , Beighton P. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractPolyostotic fibrous (McCune‐Albright) dysplasia is an uncommon nonhereditable disorder characterized by localized or widespread cystic changes in the skeleton. The limb bones are predominantly affected; craniofacial involvement is rare. We have encountered a severely affected man, with the additional manifestation of massive craniofacial hyperostosis. It is questionable whether this condition is an autonomous entity or represents the end of the spectrum of severity of polyostotic fibrous dysplasia.
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophy in cDNA
Authors: Darras Basil T. , Koenig Michel , Kunkel Louis M. , Francke Uta , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractDNA sequence polymorphisms (RFLPs) have been widely used as genetic markers for identification of the X chromosome that carries the mutation for Duchenne muscular dystropby (DMD) in affected families, but serious limitations and pitfalls are associated with this approach [Darras et al., 1987]. The complementary DNA (cDNA) of the DMD gene has recently been isolated and shown to detect partial gene deletions in a large proportion of patients [Koenig et al., 1987]. Two prenatal studies are presented to illustrate how the unambiguous identification of deletion mutations by cDNA probes permits direct DNA‐based diagnoses with high accuracy and in otherwise uninformative families. In a single proband family, DNA marker analysds had determined that the Xp21 chromosomal region present in the affected male was also carried by a male fetus in a oubsequent pregnancy. Analysis of this family's DNA with probes covering the entire 14 kb cDNA revealed a small deletion in the affected male that was not present in the fetus nor in the mother. In the second family the fetus was a female deletion carrier identified by comparing intensities of restriction fragments. Since 1/3 of all DMD patients are thought to result from new mutations and most families have only single affected males, the cloned cDNA probes now available are likely to revolutionize DNA‐based diagnostic studies in this disorder. More reliable, more rapid and less expensive than linkage studies with DNA polymorphisms, this methid will be informative in the more than 50% of DMD/BMD cases that have deletion mutations.
Expanding the spectrum of the Perlman syndrome
Authors: Greenberg Frank , Copeland Karen , Gresik Mary V. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on an infant with manifestations of Perlman syndrome including polyhydramnios, macrosomia, bilateral nephromegaly with nephroblastomatosis, visceromegaly and cryptorchidism. Other findings in this infant not seen in previous patients were diaphragmatic hernia, interrupted aortic arch, hypospadias and polysplenia. This infant meets the diagnostic criteria for Perlman syndrome, suggesting that diaphragmatic hernia and cardiac defects may be additional findings in this disorder.
Further diagnostic thoughts about the elephant man
Authors: Cohen M. Michael , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractFurther evidence for a diagnosis of the Elephant Man's condition is reviewed. It is known that the Elephant Man had “mocassin” lesions, hyperostoses of the skull, and absence of café‐au‐lait spots, all of which are characteristic of Proteus syndrome. Recently, questions have been raised about his skeletal findings and their relevance to neurofibromatosis. However, other skeletal diagnoses have been entertained, including Maffucci syndrome, Paget's disease of bone, pyarthrosis, and fibrous dysplasia. These diagnostic possibilities are discussed and evaluated critically. It is concluded that the skeletal findings are most consistent with Proteus syndrome and coincidental hip disease secondary to childhood trauma.
Report of two cases of distal deletion of the long arm of chromosome 6
Authors: Stevens Cathy A , Fineman Robert M. , Breg W. Roy , Silken Alan B. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two patients with distal deletions of 6q. In one case a de novo translocation between chromosomes 6 and 7 resulted in del(6q25→6qter). The other case had a de novo deletion, also from 6q25 to 6qter. There have been eight previous reports of distal deletions of 6q. These patients have developmental retardation, microcephaly, craniofacial anomalies, various types of congenital heart defects, and anomalies of hands and feet. The facial similarities of our two patients and those in six published photographs are subtle and may represent an emerging phenotype.
Ethics and medical genetics in the United States. A national survey
Authors: Wertz Dorothy C. , Fletcher John C. , Reilly Philip 
Published: June 2005

AbstractThe approaches of 295 medical geneticists in the United States to 14 clinical problems and 3 screening situations that required a moral choice aresummarized. These data are part of a survey of 682 geneticists in 19 nations. Of 490 U.S. geneticists asked to participate, 295 (60%) returned anonymous detailed questionnaires. There was strong (> 75%) consensus that preserving the mother's confidentiality overrides disclosure of true paternity; that conflicting test results, new/controversial interpretations of results, and ambiguous/artifactual results should be disclosed; that artificial insemination by donor, adoption, taking chances, contraception, sterilization, and in‐vitro fertilization with a donor egg should be presented as reproductive options to carriers of disorders not diagnosable prenatally; that prenatal diagnosis should be performed for patients who refuse abortion and for maternal anxiety in the absence of medical indications; that screening in the workplace should be voluntary. There was no consensus about disclosure of a diagnosis of Huntington disease or hemophilia A to relatives at risk, against the patient's wishes, or about disclosure of parental translocations. Geneticists in the U.S. differed from 18 other nations in presenting surrogate motherhood as an option (67%); willingness to perform prenatal diagnosis for sex selection or refer (62%); and disclosure of XY genotype in a female (62%). Men were more likely than women to say that they would give directive counseling. Women were more likely than men to say that they would perform prenatal diagnosis for maternal anxiety or for sex selection.
Cryptomicrotia and short, stubby fingers with excess fingertip arch patterns in a mother and son
Authors: Tonoki Hidefumi , Ohura Takehiko , Niikawa Norio , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a malformation syndrome of bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch patterns in a chrormosomally and mentally normal mother and son. Familial occurrence of this malformation complex has not been described previously and the manifestations of the patients do not correspond to those of any known malformation syndromes. The disorder in this family may be attributable to the pleiotropic effect of an autosomal or an X‐linked dominant gene.
Variant of atelosteogenesis? Report of a 20‐week fetus
Authors: Herzberg Arlene J. , Effmann Eric L. , Bradford William D. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a 20‐week fetus with manifestations similar, but not identical, to those of atelosteogenesis. The present fetus had rhizomelic micromelia with absence of ossification in the humerus, radius, ulna, and cervical and upper thoracic vertebral bodies; coronal clefts in the ossified thoracic vertebral bodies; and talipes equinovarus. The physes were relatively normal on histologic examination.
Maternal serum hexosaminidase A in pregnancy: Effects of gestational age and fetal genotype
Authors: Ben‐Yoseph Yoav , Pack Beverley A. , Thomas Pamela M. , Nadler Henry L. , Kaback Michael M. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractThe diagnostic usefulness of sulfated fluorogenic substrates in carrier detection of Tay‐Sachs disease in serum during pregnancy was assessed by testing coded samples. Gradual increase in serum hexosaminidase activities toward these substrates was observed throughout pregnancy in both carrier and non‐carriers of the Tay‐Sachs gene, but absolute discrimination between the 2 genotypes could not be achieved even when values were compared within the same gestational age. Examination of isolated isozyme fractions with the sulfated substrates showed that the increased activities during pregnancy were due to a genuine increase in hexosaminidase A and not associated with the elevation of hexosaminidase I (or P), which was evident only with unsulfated substrates. The extent of the increase was influenced by the genotype of the fetus as indicated by higher values in pregnant carriers who carried non‐carrier fetuses. We conclude that determination of serum hexosaminidase A during pregnancy by sulfated fluorogenic substrates may have a prenatal diagnostic value when used in obligate heterozygotes for Tay‐Sachs disease, but is unreliable for screening purposes.
Absence of fibula and ulna with oligodactyly, contractures, right‐angle bowing of femora, abnormal facial morphology, cleft lip/palate and brain malformation in two sibs: A possible new lethal syndrome
Authors: Pfeiffer R. A. , Stöss H. , Voight H. J. , Wündisch G. F. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractAbsence of fibulae, and unilateral absence of ulna, associated with lateral oligodactyly, and rectangular bowing of the femora are the prominent features of a lethal syndrome studied in two children of related parents. Other malformations are cleft lip and palate and posterior midline abnormalities of the brain. One similar though not identical MCA‐syndrome was reported. The literature is reviewed with respect to ulno‐fibular malformations.
Neurofibromatosis with fully expressed Noonan syndrome
Authors: Abuelo Dianne N. , Meryash David L. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present an 18‐year‐old man with neurofibromatosis (NF) and classic manifestations of the Noonan syndrome (NS), including the cardiac findings. His father also has neurofibromatosis but only some of the characteristics of Noonan syndrome. This case lends further support to the notion that the neurofibromatosis‐Noonan syndrome (NF‐NS) is a discrete entity and demonstrates that the NF‐NS can be inherited, with variable expression of the Noonan phenotype within a family.
Aortic hypoplasia and cardiac valvular abnormalities in a boy with fragile X syndrome
Authors: Waldstein Gail , Hagerman Randi 
Published: June 2005

AbstractAn 18‐year‐old mentally retarded male with the Martin‐Bell syndrome was fragile X positive. He died suddenly with viral pneumonia and myocarditis. At autopsy, generalized tubular hypoplasia of the aorta and a mild coarctation were discovered. The base of the mitral and tricuspid valves showed striking aberrations in elastin distribution and structure by light microscopy. Local collagen alterations were also noted. Comparable changes were seen in the skin elastin as well as a severe depletion of acid mucopolysaccharides. These changes suggest a structural disruption underlying the clinical connective tissue problems in some patients with the fragile X syndrome.