bluuebunny/crossref_metadata_2025_split huggingface dataset:
Fetal mortality in sibships with one or more affected members with oral clefts
Authors: Mutchinick Osvaldo , Lisker Rubén , Babinsky Victoria , Santos Miguel Angel , Mejía Francisco , Saavedra Dolores , Villanueva Cristina , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe investigated the fetal mortality in 903 sibships with at least one member having cleft lip with or without cleft palate [CL(P)] and 213 with at least one individual affected with cleft palate (CP) derived from three different data sources in México. The frequency of fetal wastage (abortion and/or Stillbirth) was not increased in sibships where the propositi had cleft lip and palate (CLP) as compared with cleft lip (CL) nor in those where index cases had a bilateral lesion as compared to a unilateral one, nor when the index cases with CL(P) were female rather than males, nor when the index case was a female with bilateral lesion as compared to males with a unilateral one. Similarly fetal mortality was not increased in sibships in which the propositus had CP compared to those in which the index case was a female. These findings are contrary to some reports that claim to support a twothreshold model according to which individuals reaching the first one would be born with an oral cleft, and those reaching the second would be aborted. Our results, together with others, suggest the possibility that liability to oral clefts is independent of liability to fetal wastage.
Infantile polycystic kindney disease: Observations from attempts at prenatal diagnosis
Authors: Luthy David A. , Hirsch Jack H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThree successive pregnancies of a couple at risk for infantile polycystic kidney disease were evaluated by sequential ultrasound examinations to attempt prenatal diagnosis of the disorder. The gestational age at which renal sonographic changes were noted varied from 20 to 34 weeks and resulted in both false‐positive and false‐negative diagnoses.
A new X‐linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia
Authors: Wieacker Peter , Wolff Gerhard , Wienker Thomas F. , Sauer Michael , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractSix men from three generations of one family had manifestations of a possible new syndrome. All had congenital contractures of the feet at birth, a slowly progressive predominantly distal muscle atrophy, dyspraxia of the eye, face, and tongue muscles, and mild mental retardation. The pedigree is compatible with X‐linked recessive inheritance with no detectable manifestations in the obligate carriers. Linkage analysis excludes close linkage with the Xg locus and a polymorphic DNA sequence from the long arm of the X chromosome (DXS17).
Multiple congenital anomalies, mental retardation and hypogonadotropic hypogonadism in a boy with small marker chromosomes
Authors: Copeland Kenneth C. , Hansen Kathryn , Moore Charleen M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a mentally retarded boy with hypogonadotropic hypogonadism. He also had a hypoplastic right kidney and right vesicoureteral reflux, blunted calyses of the left kidney, spina bifida occulta, stiff metacarpophalangeal joints, and cataract of the left eye. Chromosome studies showed two marker chromosomes, the larger of which appeared to be a ring chromosome varying greatly in size, while the smaller one remained constant in size. Chromosome abnormalities may be associated with several forms of hypogonadotropic hypogonadism.
Familial Sotos syndrome (cerebral gigantism): Craniofacial and psychological characteristics
Authors: Bale Allen E. , Drum M. Ann , Parry Dilys M. , Mulvihill John J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractMost reported cases of Sotos syndrome are sporadic, but autosomal dominant and recessive inheritance patterns have been suggested. Ascertainment of a two‐generation family through a 7‐year‐old proposita with a learning disability allowed the relatively unbiased study of two affected relatives.Developmental delay was not pronounced in the patient's mother or sister; craniofacial characteristics at variance with the characteristic description included acrocephaly and maxillary prominence. Steepness of the anterior cranial base angle and protrusion of the middle and lower face, shown in all three patients by cephalometric radiographs, deserve further evaluation as d agnostic criteria.
Metacarpophalangeal pattern profile analysis in Sotos syndrome
Authors: Butler Merlin G. , Meaney F. John , Kittur Smita , Hersh Joseph H. , Hornstein Lusia , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe metacarpophalangeal pattern profile (MCPP) was analyzed on 16 Sotos syndrome patients. A mean Sotos syndrome profile was produced. Correlation studies confirm clinical homogeneity of Sotos syndrome individuals. Discriminant analysis of Sotos syndrome patients and normal individuals produces a function of two MCPP variables and age, which may provide a useful tool for diagnosis.
Ichthyosis and neutral lipid storage disease
Authors: Williams Mary L. , Koch Thomas K. , O'Donnell James J. , Frost Philip H. , Epstein Lois B. , Grizzard W. Sanderson , Epstein Charles J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractFour members of a consanguineous middle eastern family had a lipid storage disease characterized by congenital ichthyosiform erythroderma, neurosensory deafness, cataracts, mild myopathy, and leukocyte vacuoles. These patients are similar to several others recently reported and represent a unique disorder of lipid metabolism. The clinical and biochemical manifestations of this lipid storage disease are reviewed. Evidence is presented that the disorder is inherited as an autosomal recessive trait, and that heterozygotes may be detected by the presence of vacuoles within circulating eosinophils.
A taxonomic approach to the del(4p) phenotype
Authors: Preus M. , Aymé S. , Kaplan P. , Vekemans M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe findings of 23 patients with the del(4p) phenotype are compared systematically. Three patients with a small deletion evident only on analysis of extended chromosomes have a phenotype comparable to 13 patients with a more extensive chromosomal deletion. Two patients with no detectable deletion also fit into the phenotypic spectrum of patients with del(4p), suggesting the same etiology. Five patients with fewer typical and more atypical findings probably represent a heterogeneous group of other syndromes. Numerical analysis of the phenotype allows one to identify patients who most likely have a deletion requiring a more intensive cytogenetics analysis.
Noonan syndrome: A review
Authors: Mendez Heirie M. M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractAfter an introduction dealing with the “historical evolution” of the Noonan syndrome (NS), we try to define the NS phenotype based on clinical descriptions published since 1883. The theories concerning the cause of the NS are discussed fully. The peculiar cardiac involvement deserves especial attention and raises the question of whether the Watson and LEOPARD syndromes are indistinguishable from NS. Finally, the recent contributions to the variability of the NS phenotype (reports on lymphatic dysplasia, partial deficiency of factor XI, malignant hyperthermia, perceptual‐motor disabilities, and endocrine evaluation) are also described.
The role of mesenchyme‐like tissue in the pathogenesis of thanatophoric dysplasia
Authors: Ornoy A. , Adomian G. E. , Eteson D. J. , Burgeson R. E. , Rimoin D. L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have studied the light microscopic, transmission, and scanning electron microscopic (SEM) findings in 13 cases of thanathophoric dysplasia (TD) and 4 control infants. In the TD growth plate, areas with less abnormal cartilage and bone alternated with areas of severely abnormal cartilage and bone. These latter abnormal areas were always found around tongues of apparent mesenchymal tissue that appeared to penetrate from the investing perichondrium and periosteum. The ultrastructure of the less abnormal areas was similar to that of the control infants, including cell and matrix structure as well as mineralization. The abnormal cartilage and bone had many ultrastructural abnormalities that were also found in the adjacent mesenchymal tissue. The mesenchymal cells, adjacent chondrocytes, and osteoblasts contained dilated endoplasmic reticulum and moderately large intracytoplasmic vacuoles. In the area adjacent to the cartilage, the matrix of the apparent mesenchyme contained thin collagen fibers and proteoglycan granules, whereas the matrix adjacent to the bone contained thick bundles of short collagen fibers. The matrix of the surrounding cartilage and bone resembled the adjacent matrix in the mesenchyme. In addition, many vesicular structures or osmiophilic particles were found in the matrix of the mesenchyme and adjacent cartilage and bone. SEM examination showed normal and abnormal bone trabeculae adjacent to each other. In the abnormal trabeculae, there were large, densely packed osteoblastic and osteocytic lacunae. The calcified collagen fibers had a random orientation, in contrast to the longitudinal orientation in the relatively normal bone. Chemical studies of collagen in the metaphyses of bones from five infants with TD showed a small amount of collagen type III (less than 5%), which was not found in three control infants. Thus, a basic pathogenetic mechanism in the skeletal abnormalities of TD appears to be the focal replacement of the growth plate and periosteum by persisting abnormal mesenchymal‐like tissue from which the abnormal bone originates.
Anencephaly in one monoamniotic‐monochorionic twin and encephalocele in the other
Authors: Putz Barbara , Rehder Helga , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThis is a report of monoamniotic‐monochorionic (ie, probably MZ) twins, one of which had anencephaly, whereas the co‐twin died of complications of prematurity. Autopsy in this seemingly nonmalformed twin showed a small encephalocele. The literature on MZ twins with discordant anencephaly is often contradictory. It is suggested that this might be due to the difficulty of determining zygosity on the one hand and identifying discordance or concordance on the other. This case is presented as an example of this difficulty; it is discordant with respect to anencephaly, but concordant in the sense of “dysraphic” disturbances.
Familial glioblastoma multiforme without neurofibromatosis
Authors: Chemke J. , Katznelson D. , Zucker G. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractGlioblastoma multiforme is a rapidly growing anaplastic primary tumor of the central nervous system. It is frequently associated with neurofibromatosis or other hamartomatous syndromes, and in such kindreds may be found in several generations. We describe a highly inbred family in which glioblastoma multiforme presents in males only as an isolated central nervous system neoplasm on the right side, without evidence of other underlying genetic disease. It is speculated that in this family the tumor develops as the consequence of an autosomal recessive or an X‐linked recessive mutation. In addition, the gene for cystic fibrosis segregates in this family and an undefined autosomal recessive malformation syndrome was detected.
Anomalies in an infant with Nager acrofacial dysostosis
Authors: Krauss Celeste M. , Hassell Lewis A. , Gang David L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on an infant with Nager acrofacial dysostosis, laryngeal and epiglottic hypoplasia, abnormal septation of the right middle lobe of the lung, hypoplastic right first rib, and dislocation of the right hip. These findings suggest the possibility that patients with the Nager syndrome may have other developmental defects in addition to the facial and acral anomalies associated with this syndrome.
Krabbe disease: Increased incidence in a highly inbred community
Authors: Zlotogora J. , Regev R. , Zeigler M. , Iancu T. C. , Bach G. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractKrabbe disease (globoid cell leukodystrophy) was found with very high incidence (6/1,000 live births) in a large Druze kindred in Israel. The clinical data on 12 of the affected children demonstrated clinical variability even though these children are homozygous for the same mutation by descent from a common ancestor.
The Greig cephalopolysyndactyly syndrome: Report of a family and review of the literature
Authors: Gollop Thomaz Rafael , Fontes Luiz Roberto , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe Greig cephalopolysyndactyly syndrome in characterized by a set of craniofacial defects (macrocephaly, broad nasal root) leading to peculiar facial appearance, postaxial (occasionally preaxial) polydactyly of hands, preaxial (rarely postaxial) polydactyly of feet, and syndactyly of fingers and toes. Occasionally other skeletal or nonskeletal defects are present. This is an autosomal dominant trait with complete penetrance and variable expressivity. Prognosis for mental and physical development of the affected patients is good, surgery being indicated primarily for aesthetic and functional correction of polydactyly and syndactyly. We report on a Brazilian family in whom the mother and two of three sons were affected.
Johanson‐Blizzard syndrome with normal intelligence
Authors: Moeschler John B. , Lubinsky Mark S. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report a brother and sister with apparent Johanson‐Blizzard syndrome and normal intelligence. There is a wide range of intellectual abilities of persons with Johanson‐Blizzard syndrome. No phenotypic predictors of ultimate intellectual function were found in the literature.
Pregnancy in a woman with the Brachmann‐de Lange syndrome
Authors: Mosher Gayle A. , Schulte Raymond L. , Kaplan Phoebe A. , Buehler Bruce A. , Sanger Warren G. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present the first reported pregnancy in a woman with the Brachmann‐de Lange syndrome. This 24‐year‐old primagravid woman was originally seen at 13 weeks of pregnancy with manifestations consistent with this diagnosis. High‐resolution chromosome studies, performed on lymphocytes, showed a normal 46,XX chromosome constitution. Because of the stage of pregnancy at which she presented, a genetic amniocentesis was simultaneously performed for chromosome analysis on the fetal cells, which were also normal (46,XX). The uncomplicated pregnancy was monitored carefully and at 37 1/2 weeks of gestation she delivered a clinically normal‐appearing female infant.
Brachmann‐de Lange syndrome: Evidence for autosomal dominant inheritance
Authors: Robinson Luther K. , Jones Kenneth Lyons , Wolfsberg Eric , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have evaluated a family in whom a mildly affected mother and her two severely affected sons have manifestations of the Brachmann—de Lange syndrome suggesting that some cases of this disorder are inherited in an autosomal dominant fashion. Documentation of the clinical phenotype in two generations of this family permits further delineation of the phenotypic spectrum of the disorder. The fact that most affected patients represent sporadic cases in otherwise normal families might represent the inability of severely affected individuals to reproduce.
The natural history of familial hypopituitarism
Authors: McArthur Robert G. , Klassen John , Morgan Kenneth , Phillips John A. , Bala Marvin , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractFamilial hypopituitarism in the Hutterite Brethren is an autosomal recessive disorder involving sequential loss of anterior pituitary tropic hormones. Five individuals from two closely related families have been followed for 19 years. Both families are well integrated into the Hutterite community. Three sibs elected not to be treated with growth hormone and sex steroids. These sibs developed growth hormone and gonadotropin deficiency in the first decade of life, with subsequent loss of TSH function and finally ACTH deficiency in the third decade. The pattern of hormone loss differed in the second family, in that deficiency of growth hormone, gonadotropins, and TSH was evident in the first decade. A third family has been reported to have the same disorder and is from a different endogamous subdivision from that of the two families described here. Genealogical analysis of the three families shows that there are four ancestral couples common to the six parents. Thus all affected individuals are likely to be identical by descent for the same ancestral allele. The gene for hypopituitarism is not closely linked to the gene for growth hormone nor to the HLA region.
I. Familial hypercholesterolemia with “normal” cholesterol in obligate heterozygotes
Authors: Nora James J. , Lortscher Randall M. , Spangler Richard D. , Bilheimer David W. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have investigated the family of a 15‐year‐old proposita with a homozygous, receptor‐defective, familial hypercholesterolemia and found that her consanguineous, obligate heterozygous parents have “normal” cholesterol levels and a family history of unusual longevity. Documentation of paternity and the presence of the heterozygous biochemical disorder in the parents is firm. The implications are that, at least in this family, relatively low serum cholesterol and high levels of HDL cholesterol are protective against the risks associated with having a mutant allele for heterozygous familial hypercholesterolemia.
Animal model: Light and electron microscopy of hepatocytes of cats with Chediak‐Higashi syndrome
Authors: Hargis Ann M. , Prieur David J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractCats with a condition resembling human Chediak‐Higashi syndrome (CHS) are the most recently described of five species of animals with similar syndromes. In this study, hepatocytes of cats with CHS were examined by light microscopy, histochemistry, and transmission electron microscopy. Enlarged cytoplasmic granules, morphologically consistent with lysosomes, were present in many of the CHS cat hepatocytes. The enlarged lysosomes were generally larger and more numerous in centrilobular hepatocytes and were generally larger in older cats. The lesions were similar to those reported in other species with CHS suggesting that CHS cats are a valid animal model of human CHS.
Thanatophoric dysplasia: Fetal manifestations and prenatal diagnosis
Authors: Elejalde B. Rafael , De Elejalde Maria Mercedes , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThis paper describes two fetuses with thanatophoric dysplasia (TD) diagnosed in utero by ultrasonography. The fetuses were found to have severely short (< 3rd centile), mildly bowed bones in one of them at 20 weeks and straight bones in the other at 34 weeks; bell‐shaped chest; abnormal ribs (broadened and flattened at their ends); severe lung hypoplasia; hypoplastic, round‐shaped vertebral bodies with hypoplastic arches; abnormally small pelvic bones, phalanges, metacarpals, and metatarsals. There was also an incipient “cloverleaf” skull deformity produced by fused posterior sagittal and lambdoidal sutures in the 20‐week fetus and a definitive cloverleaf skull with communicating hydrocephaly in the 34‐week fetus. The autopsies did not show any other abnormality. By xeroradiography after delivery, marked abnormalities of the endochondral and perichondral bone structures could be demonstrated in the 20‐week fetus but not in the 34‐week fetus. They appear to constitute two different conditions. These cases are good examples of the possibilities brought by ultrasound to the analysis of the fetal phenotype in utero.
On monitoring the multiply malformed infant. I: Case‐finding, case‐recording, and data handling in a Latin American program
Authors: Castilla Eduardo E. , Lopez‐Camelo Jorge S. , Orioli Lěda M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe methods used by the Latin American Collaborative Study of Congenital Malformations (ECLAMC) for monitoring the birth prevalence of multiply malformed infants are based on a clinical‐epidemiological approach oriented to the early detection of teratogenic agents. They consist of three steps: 1) the analysis of observed vs expected rates of all congenital anomalies (CA), including their isolated and associated forms; 2) the same type of analysis applied to each multiple congenital anomaly (MCA) pattern; and 3) a clinical case presentation reserved only for those considered as true MCA because of presence of three or more independent CA.During the period 1982–1983 299,231 infants were examined. Multiply malformed infants, excluding Down syndrome cases, were born at a rate of 4/10,000, 40% having syndromes (two or more interrelated CA), 30% anomaly pairs, ie, two independent CA, and 30% true MCA cases. In a program with 150,000 births per year, as in ECLAMC, this means about five true MCA cases per week, a number easily handled individually on a clinical basis.
Partial fra(X) phenotype with megalotestes in fra(X)‐negative patients with acquired lesions of the central nervous system
Authors: Fryns Jean‐Pierre , Dereymaeker Annemie , Hoefnagels Margot , Volcke Philip , Van den Berghe Herman , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe 3 men with acquired lesions of the central nervous system (one male with tumor of the third ventricle, two males with peri‐ or postnatal accidents). In all three patients macroorchidism was associated with facial characteristics similar to those found in fra(X) males, but they were fra(X)‐negative.The finding of megalotestes associated with a partial fra(X) phenotype in the present patients and, more particularly, the documentation of a hypothalamic tumor in the first patient, suggests that a specific hypothalamic lesion in fra(X) malesis responsible for some of their manifestations.
Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes
Authors: Beemer Frits A. , Veenema Henk , de Peter Johanna M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo boys were studied who had a large size at birth and/or overgrowth, unusual length, large head circumference and minor anomalies, mainly facial. Their mental development appeared mildly retarded. A clinical diagnosis of cerebral gigantism (Sotos syndrome) was made. However, subsequent chromosome studies (medium 199, with 5% fetal calf serum) showed fra(X) (q27) in 4 and 6% of cells, respectively. These observations give evidence for genetic heterogeneity in cerebral gigantism. Fra(X) studies are recommended in all cases of cerebral gigantism (Sotos syndrome).