bluuebunny/crossref_metadata_2025_split huggingface dataset:
Consumer costs for genetic services
Authors: Myers Terry L. , Prouty Leonard A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractSince the mid‐1970's, inflation and changing patterns of subsidies for genetic service centers in the United States have increased the costs of these services for patients and insurers. We have monitored this trend by periodically surveying the providers of these services to determine their current billing rates. We report here recent rates for cytogenetic laboratory services as well as for clinical in‐ and outpatient genetic consultations. Prices for the main laboratory and consultation services are approximately twice their 1976 level, but these increases parallel those of medical care. The inflationary trend is slowing. Geographic variations in pricing differences in charges between M.D.'s and Ph.D.'s, and certain personnel trends in genetic centers are apparent in our data.
Metaphase chromosome folds and X‐inactivation
Authors: Butler Merlin G. , Joseph Geeta M. , Dev V. G. , Reynolds James F. 
Published: June 2005

AbstractTo evaluate the suggested nonrandom folding of Xql3‐q21 (center of Barr body condensation) of the inactivated X chromosomes, metaphases from nine subjects with or without X chromosome abnormalities (eight females and one male) were investigated with RBG‐staining. A significant increase (p < .05) in the number of arm folds (Xq13‐q21) of the late‐replicating X chromosome, particularly in early to mid‐metaphase, was observed in four of eight females. Therefore, the stage of chromosome contraction was an important factor with more folds observed at the centromeres and in longer chromosomes in early metaphase compared with mid‐ to late metaphase. X chromosome folds were present in cells of subjects treated with or without bromodeoxyuridine. While our study agrees with the relationship of Xql3‐q21 fold with the X‐inactivation center, the correlation of extended chromosomes and folding limits this method as a sole indicator of X‐inactivation in routine mid‐metaphase, but is useful in the analysis of early metaphase chromosomes.
Familial CHARGE syndrome: Clinical report with autopsy findings
Authors: Metlay Leon A. , Smythe Peter S. , Miller Marvin E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a patient with CHARGE syndrome, as manifested by a coloboma of the optic nerve head, congenital heart defect (ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum. His chromosomes were normal. He died at 19 months. His mother was short and had hearing impairment, choanal atresia, and a coloboma. We suggest that this represents evidence for dominant transmission of this disorder in this family. Other familial cases from the literature are reviewed.
Sedaghatian congenital lethal metaphyseal chondrodysplasia—observations in a second Iranian family and histopathological studies
Authors: Opitz John M. , Spranger Jürgen W. , Stöss Hartmut R. , Pesch Hans‐Jürgen , Azadeh B. , Reynolds James F. 
Published: June 2005

AbstractIn 1980, Sedaghatian described in two brothers and one sister a neonatally lethal disorder associated with slight rhizomelic limb shortness, mild platyspondyly, and severe metaphyseal dysplasia. Here data are presented on another Iranian infant with the Sedaghatian syndrome who died on day 4 and was found to have histologic evidence of severe epimetaphyseal dysplasia. The occurrence in chil‐dren of both sexes in one instance, born to normal parents who were first cousins, and currently apparent confinement of the disorder to Iranians suggests that the Sedaghatian syndrome is an autosomal recessive trait with high gene frequency in Iranians. This may be a more complexly pleiotropic syndrome than suggested by the roentgenograms, since one of Secaghatian's patients also had “microphthal‐mia, asymmetry of ears, depressed nasal bridge, broad nose, short neck, promi nent sternum, and short lower extremities”.
Reproductive choices in hemophilic men and carriers
Authors: Miller Connie H. , Hilgartner Margaret W. , Aledort Louis M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have examined reproduction patterns in hemophilic men and carrier women seen at a hemophilia treatment center. The study group included 309 patients with hemophilia A or B: 194 adults and 115 children from 246 pedigrees; 93% of affected men and 96% of parents of affected children had received genetic counseling. In the collected pedigrees, 65 % of affected males were born to women with family history of hemophilia. An additional 23% of mothers were later shown to be carriers. Fewer than 12% of cases could be due to a new mutation in the child. Among 209 hemophilia A carrier tests, 95% of obligate carriers were detectable, 87% of mothers of sporadic cases, 53% of sisters of hemophiliacs, and 24% of other relatives had a high risk of carriership. Of 49 high‐risk women seen during or prior to pregnancy, one‐half elected prenatal diagnosis. Amniocen‐tesis was performed in 24 cases and 8 were referred for fetoscopy, resulting in 18, normal offspring. Among 25 pregnancies not tested, 14 continued and produced 3 affected males and 11 normal offspring. Of hemophilic men over age 25, 66% have married and 41% (62% of those married) have had children. These obser‐vations will serve as a baseline for assessing any change in reproductive patterns occurring with the introduction of new genetic techniques.
New marfanoid syndrome with craniosynostosis
Authors: Furlong Judith , Kurczynski Thaddeus W. , Hennessy James R. , Reynolds James F. 
Published: June 2005

AbstractWe report on a patient with various connective tissue abnormalities suggesting a distinctive disorder combining some features of the Marfan syndrome with cranio‐synostosis and other anomalies. A comparison is made with the Marfan syndrome and other phenotypically similar conditions.
Male excess among anatomically normal fetuses in spontaneous abortions
Authors: Byrne Julianne , Warburton Dorothy , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractEstimates of the sex ratio in miscarriages, obtained mainly by cytogenetic or nuclear sexing methods, have yielded conflicting results. We report the results of a study of the anatomic sex ratio among embryos and fetuses derived from a consecutive series of 3,469 miscarriages. The overall sex ratio (M:F) was 1.25. The male excess was confined to normally formed specimens (1.30) and was present at all gestational ages up to 23 weeks and all sizes over 5 cm. Among malformed specimens the sex ratio was close to unity (0.92). Agreement between chromosomal and anatomic sexing was excellent, and the cytogenetic sex ratio among anatomically normal abortuses showed a similar excess of males. We hypothesize that an excess of anatomic males among fetal deaths suggests the presence of a discrete cause or causes that operate on normally formed embryos and fetuses, whereas loss of malformed embryos and fetuses may be due to other mechanisms that affect females as often as males.
Vertical transmission of the neurofibromatosis/Noonan syndrome
Authors: Quattrin Teresa , McPherson Elspeth , Putnam Theodore , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe are reporting on a boy and his mother with neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, and short neck. Developmental delay was noted in the son, and the mother was noted to have a heart murmur. There was a family history of café‐au‐lait spots, and photographs of several of these relatives showed a facial appearance suggesting Noonan syndrome. The presence of neurofibromatosis associated with Noonan syndrome manifestations in our related patients suggests presence of a unique disorder sharing characteristics of both conditions.
Neural tube defects and sex ratios
Authors: Seller Mary J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe sex ratio of 147 fetuses with presumed multifactorial neural tube defect (NTD) was studied. Overall, the ratio (males:females) was 0.73 with expected female excess. However, when the NTDs were subdivided according to the site of the lesion, the sex ratios varied. Total craniorachischisis, anencephaly with cervical spina bifida, holoacrania, and thoracic spina bifida showed a greater female excess than that overall; the sex ratio for meroacrania was close to unity, while that for low spinal lesions, particularly those involving the sacrum, showed an extreme bias towards males. These findings are related to the mode of formation of the neural tube. Females seem prone to defects of neurulation and males to defects in canalisation. An explanation for these findings is suggested in possible sex differences in rate of early embryonic development.
H‐Y typing by ELISA in a 46,X,dic(Y)(q11.2101) male: Effects of a nonmosaic Yp duplication
Authors: Moreira‐Filho Carlos A. , Wachtel Stephen S. , Daniel Art , Priest Jean H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA new ELISA was used to measure H‐Y antigen in cultured fibroblasts from a male with 46,X,dic(Y)(qll.2101) involving duplication of Yp. Aliquots of mono‐clonal H‐Y antibody were absorbed with 1, 2, 4, or 8 × 106 cells from the 46,X,dic(Y) male, or with corresponding numbers of cells from a normal XY male and a normal XX female, and then were tested for residual activity against a soluble antigen source. Portions of the antibody absorbed with cells of the 46,X,dic(Y) male were found to be less reactive than portions absorbed with cells of the normal XY male, for all numbers of cells and both dilutions of plated antigen. The results, quantified in an electronic optical density reader, imply presence of excessive H‐Y in cells of the 46,X,dic(Y) male, and suggest presence of a genetic determinant of H‐Y on Yp or proximal Yq near the centromere.
Duplication of distal 15q: Report of five new cases from two different translocation kindreds
Authors: Lacro Ronald V. , Jones Kenneth Lyons , Mascarello J. T. , Jones Oliver W. , Wilson Nevin , Jones Marilyn C. , Reynolds James F. 
Published: June 2005

AbstractFour children and one spontaneously aborted fetus from 2 separate families have a similar pattern of malformation secondary to duplication of distal 15q. In both families, the abnormal chromosomes were derived from balanced reciprocal translocations carried by the mothers. Clinical features common to the 4 liveborn children include appropriate birth weight, length, and head circumference for gestational age; similar craniofacial anomalies, including sloping forehead, bulbous nose, prominent nasal bridge and septum, midline crease in the lower lip, and micrognathia; arachnodactyly; joint contractures involving hands and feet; cardiac defects; and genital anomalies. The 2 infants with duplication 15q22.1‐ → qter and deletion 13q32.3‐ → qter died in the immediate neonatal period. The abortus, who shared the same chromosome constitution, had an omphalocele and a cephalic defect in neural tube closure. The 2 children with duplication 15q22‐ → qter and deletion 11q25‐ → qter survived but have severe psychomotor retardation and postnatal onset growth deficiency, at 48 and 30 months, respectively. The findings in these 5 cases plus review of the literature permit further delineation of a recognizable pattern of malformation secondary to duplication of distal 15q.
Studies in neural tube defects I. Epidemiologic and etiologic aspects
Authors: Myrianthopoulos Ntinos C. , Melnick Michael , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIn the NIH Collaborative Perinatal Project, a prospective study of over 53,000 pregnant women and their offspring, 71 single‐born children (13.33/10,000) were found to have a non‐syndromal neural tube defect (NTD). A family history was present in only one case. The group of individuals with NTD was compared to a group of 400 randomly selected non‐malformed control infants. Of over 50 maternal factors studied the following showed significant association with NTD in the offspring: diabetes mellitus; organic heart disease; lung disease; and diuretic, antihistamine, and sulfonamide use. The interval between the termination of the immediately previous pregnancy and the start of the proband pregnancy was significantly shorter in mothers of NTD children than in mothers of control infants. The risk for NTD was also significantly increased if the immediately previous pregnancy was a spontaneous abortion. There was no increased risk for NTDs among sibs of children with major malformations such as tracheo‐esopha‐geal “dysraphism,” cleft lip/palate, or renal agenesis. NTDs are apparently etiologically heterogeneous.
Studies in neural tube defects II. Pathologic findings in a prospectively collected series of anencephalics
Authors: Melnick Michael , Myrianthopoulos Ntinos C. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThis report presents the pathologic anatomy of a prospectively collected series of 36 anencephalic infants. This series provides an opportunity to investigate the epidemiology of organ system pathology in anencephaly (AN) as well as other facets of its natural history. AN infants had a mean gestational age 2.5 weeks younger than normal controls, though birthweight was normal for gestational age. Nearly 1/3 of the liveborn infants with AN died within 15 minutes, 2/3 within 3 hours; 3 AN infants survived to 48 hours. Details and discussions of the pathologic findings and their physiologic significance are presented. Regarding those AN infants who received detailed neurologic examinations, correlations are made between the brain pathology and neurologic function prior to death.
A new case of the osteodysplastic primordial dwarfism type II
Authors: Willems Patrick J. , Rouwé Catrienus , Smit G. Peter A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a girl with extreme growth retardation of prenatal onset, short limbs, and somewhat unusual facial appearance. She represents the 6th patient with osteodysplastic primordial dwarfism type II. The distant consanguinity of the parents of this patient suggests possible autosomal recessive inheritance.
A syndrome of microcephaly, eye anomalies, short stature, and mental deficiency
Authors: Bavinck Jan N. Bouwes , Weaver David D. , Ellis Forrest D. , Ward Richard E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have studied a mother and son with a previously apparently undescribed syndrome of microcephaly, eye defects, small ears, mild mental deficiency, and short stature. The syndrome appears to be an autosomal or X‐linked dominant trait. The cat eye syndrome, blepharophimosis or Kohn‐Romano syndrome, Rieger syndrome, and other disorders are discussed in relationship to this entity.
Phenotype heterogeneity among hemizygotes in a family biochemically screened for adrenoleukodystrophy
Authors: Cotrufo R. , Melone M. A. B. , Monsurro M. R. , Di Iorio G. , Carella C. , Moser H. W. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two clinically, neurologically normal relatives of a boy affected by adrenoleukodystrophy (ALD); they were found repeatedly to have the biochemical defect of an ALD hemizygote. The assay consisted in the determination of very‐long‐chain fatty acids in lyophilized and reconstituted plasma.While no evidence of neurologic disease (leukodystrophy or myeloneuropathy) was present in these hemizygotes, adrenocortical insufficiency provoking compensatory high ACTH release was found in both. These findings should be taken into consideration when counseling families in which cases with clinically expressed ALD are represented in several generations.
Idiopathic multicentric osteolysis with facial anomalies and nephropathy
Authors: Carnevale Alessandra , Canún Sonia , Mendoza Luciano , del Castillo Victoria , Reynolds James F. 
Published: June 2005

AbstractIdiopathic osteolysis denotes a group of ran; bone disorders differentiated on the basis of clinical, radiological, and geneti; criteria. Idiopathic multiccniric ostco‐lysis (IMO) is one form of osteoiysis that can occur as an autosomal dominant condition.In childhood, affected individuals have arthritic‐like episodes, followed by progressive deformities, radiological osteolytic changes, and variable degrees of disability. A peculiar face and variable renal involvement have been described as associated manifestations.We report on a family with three members affected by IMO in two generations showing variable bone changes and persistent proteinuria. A sporadic case with severe renal damage is also described in which a de novo dominant mutation is suggested.All patients had peculiar facial manifestations including triangular shape, protruding eyes, and micrognathia. These manifestations may be part of the syndrome of IMO.
Hydrolethalus (Salonen‐Herva‐Norio) syndrome: Further clinicopathological delineation
Authors: Anyane‐Yeboa K. , Collins M. , Kupsky W. , Maidman J. , Malin J. , Yeh M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo brothers with severe CNS abnormalities, cleft lip/palate, polydactyly, and lung hypoplasia are reported as examples of the hydrolethalus syndrome, an autosomal recessive disorder. Death from cardiopulmonary arrest occurred in patient 1 at age 4 months and in patient 2 at age 17 days. Detailed radiological and neuropathological description is provided on patient 2. We recommend realtime ultrasonography and, when indicated, fetpscopy for antenatal detection of the craniofacial and limb malformations associated with this syndrome.
Increased sister chromatid exchange frequency at Xq27 site in affected fragile X males
Authors: Wenger Sharon L. , Hennessey Jill C. , Steele Mark W. , Reynolds James F. 
Published: June 2005

AbstractSister chromatid exchange (SCE) was evaluated in peripheral blood lymphocytes cultured from normal subjects, fragile X carrier females, and fragile X affected males and in general did not differ among all subjects whether cells were grown in thymidine‐deficient or complete medium. However, at the Xq27 site, SCE was significantly increased for fragile X affected males, particularly in cells grown in thymidine‐deficient medium.
A 26‐month‐old child with Marden‐Walker syndrome and pyloric stenosis
Authors: Gossage David , Perrin James M. , Butler Merlin G. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe recently examined a 26‐month‐old boy with abnormal face, blepharophimosis, hypertelorism, apparently low‐set ears, micrognathia, arachnodactyly, talipes equinovarus, and joint contractures. Subsequently he manifested failure to thrive, respiratory infections, and developmental delay. These congenital anomalies and associated findings are consistent with a diagnosis of the Marden‐Walker syn‐drome. He also had mild pyloric stenosis and duodenal bands, not previously reported in this syndrome. This syndrome appears to be an autosomal recessive trait in some families. A summary of findings of the 16 previous published patients is presented.
Trisomy 18 mosaicism in an adult with normal intelligence
Authors: Kohn Gertrude , Shohat Mordechai , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA healthy 30‐year‐old woman was discovered unexpectedly to have trisomy 18/ normal chromosome mosaicism. She was ascertained because of a history of three spontaneous abortions following the birth of a healthy son. Trisomy 18 was present in 18% of her lymphocytes and 2% of her cultured skin fibroblasts. She had several minor malformations associated with trisomy 18 syndrome. She is, to our knowledge, the first person who has clinical stigmata of trisomy 18 but has normal intelligence and leads a normal family life.
Achondroplasia‐hypochondroplasia complex
Authors: Sommer Annemarie , Young‐Wee Theresa , Frye Thomas , Reynolds James F. 
Published: June 2005

AbstractWe report on a 14‐year‐old girl with the achondroplasia‐hypochondroplasia complex. This patient has been reported previously [McKusick et al, 1973], and we offer an update on her condition. The patient has clinical features different from both achondroplasia and hypochondroplasia and is mentally retarded. Radiological changes, which have occurred over 14 years, are included.
Proteus syndrome in Southern Africa: Natural history and clinical manifestations on six individuals
Authors: Viljoen D. L. , Nelson M. M. , de Jong G. , Beighton P. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractSix individuals with Proteus syndrome have been investigated; 2 were adults and the others ranged in age from 2 to 11 years. They had a wide spectrum of manifestations and severity together with the hitherto unreported anomalies of penile hypertrophy, macro‐orchidism, goiter, and failure of breast development. These findings were associated with normal endocrine function. Bizarre digital overgrowth, hemihypertrophy, thickened palms and soles, exostoses of the skull, and multiple hamartomata were common anomalies. Early overgrowth of limbs and digits occurred in several instances but the ultimate stature of 2 adults was normal. Surgical intervention offers cosmetic and orthopedic benefits, but these must be assessed in the light of potential post‐operative complications.
Severe proteus syndrome in an 18‐month‐old boy
Authors: Malamitsi‐Puchner Ariadne , Kitsiou Sophia , Bartsocas Christos S. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe an 18‐month‐old Greek boy with macrocephaly, partial gigantism of hands and feet, hemihypertrophy, pigmented nevi, and other anomalies compatible with the Proteus syndrome. Cerebral involvement in a most severe form and at an early age concurs with the suggestion that encephalocraniocutaneous lipomatosis may represent a more circumscriptive manifestation of Proteus syndrome. Localized triggering of several growth factors is a challenging pathogenetic consideration of the syndrome.
Association of neural tube defects with omphalocele in chromosomally normal fetuses
Authors: Ardinger Holly H. , Williamson Roger A. , Grant Stanley , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractOmphalocele is frequently associated with other congenital malformations or a chromosome abnormality. Previously published series of omphalocele have emphasized the association of congenital heart defects or chromosomal abnormalities. We present five cases of omphalocele with a concurrent neural tube defect from among the 15 cases of omphalocele evaluated between 1981 and 1985. Fourteen of 15 were detected prenatally. A sixth case is presented in which both a neural tube defect and an omphalocele were suspected on a prenatal ultrasound, but only the latter was found on autopsy. We recommend that a systematic evaluation be performed on every fetus with an omphalocele to include amniotic fluid alpha fetoprotein, acetylcholinesterase levels, chromosome study, and careful ultrasonography looking for evidence of other abnormalities, especially neural tube defects, before counseling the parents.