bluuebunny/crossref_metadata_2025_split huggingface dataset:
The GAPO syndrome
Authors: Manouvrier‐Hanu S. , Largilliere C. , Benalioua M. , Farriaux J.‐P. , Fontaine G. , Reynolds James F. 
Published: June 2005

AbstractA new case of GAPO syndrome is described in a 4‐year‐old Algerian girl born of first‐cousin parents. This patient also‐had a right pyelic‐kidney stone and cerebral venous circulation anomalies inducing scalp vein expansion.
Cholesteryl ester storage disease: Pathologic changes in an affected fetus
Authors: Desai Panna K. , Astrin Kenneth H. , Thung Swan N. , Gordon Ronald E. , Short M. Priscilla , Coates Paul M. , Desnick Robert J. , Reynolds James F. 
Published: June 2005

AbstractThe prenatal diagnosis of cholesteryl ester storage disease, a rare autosomal recessive disorder, was made by demonstration of deficient lysosomal acid lipase activity in cultured amniocytes from an at‐risk fetus. The histochemical and ultrastructural changes in the affected fetus (at 17 gestational weeks) are described and compared to findings in liver and duodenal biopsy specimens from a 9‐year‐old homozygous female. Massive lysosomal cholesterol and lipid accumulation was demonstrated in fetal hepatocytes, adrenal cells and syncytiotrophoblasts. Of particular note was the observation of extensive necrosis in the fetal adrenal glands. Necrosis of the adrenals may precede the calcification observed in some patients with cholesteryl ester storage disease and in most patients with Wolman disease, an allelic variant due to lysosomal acid lipase deficiency. Fibrosis of the liver and lipid accumulation in macrophages in liver and duodenum, which were present in the 9‐year‐old homozygote, were not observed in the affected fetus, and therefore, may represent later manifestations of the disease.
Further linkage data on Norrie disease
Authors: Kivlin Jane D. , Sanborn George E. , Wright Eileen , Cannon Lisa , Carey John , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe obtained a LOD score of +1.61 using DNA marker L1.28 in 5 generations of a family with Norrie disease, raising the total LOD score to +5.42. There have been no recombinations between the 2 loci in any family to date, making the marker useful for genetic counseling.
Animal model: Genetic control of the survival of trisomic fetuses in mice: A preliminary report
Authors: Vekemans M. , Trasler T. , Prieur David J. 
Published: June 2005

AbstractUsing trisomy 19 produced experimentally in mice, we examined the genetic control of the survival of trisomic fetuses. Data are presented that show clearly that the prevalence of experimentally produced trisomy 19 in mice, observed on day 15 of gestation, is genetically influenced. There appeared to be an inverse relationship between strain differences in frequency of trisomy 19 fetuses and frequency of fetal loss, suggesting that the observed differences in prevalence of trisomy 19 fetuses resulted from differential survival of trisomic fetuses.
Familial risks of congenital heart defect assessed in a population‐based epidemiologic study
Authors: Boughman Joann A. , Berg Kate A. , Astemborski Jacqueline A. , Clark Edward B. , McCarter Robert J. , Rubin Judith D. , Ferencz Charlotte , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractCongenital heart defects (CHD) represent a heterogeneous group of disorders caused by chromosome abnormalities, mendelian disorders, teratogenic expo‐sures, and unknown etiologic mechanisms. A large group of various isolated defects is presumably multifactorial in origin. Previous studies of familial risks for specific anatomic defects obtained from clinical series may include significant biases and obscured pathogenic relationships. In this population‐based study we analyzed all cases of CHD in infants and a control birth cohort in the Baltimore‐Washington area. The rates of CHD were defined for first‐degree relatives of cases with isolated defects, grouped by a pathogenic classification scheme. Pre‐currence risks were found to vary among the groups, and risks for flow lesions were higher than previously reported. The sibling precurrence risk for hypoplastic left heart syndrome (13.5%) was not significantly different from that expected for an autosomal recessive mechanism; the risks for different types of ventricular septal defects (VSD) varied among mechanistic groups. The results indicate that the additive multifactorial model does not adequately account for the risks in all forms of isolated CHD of unknown etiology.
Animal model: Ceroidosis (ceroid‐lipofuscinosis) in Australian Cattle dogs
Authors: Wood Philip A. , Sisk Dudley B. , Styer Eloise , Baker Henry J. , Prieur David J. 
Published: June 2005

AbstractCeroid‐lipofuscinosis is described in Austrialian Cattle dogs. Lesions included storage of ceroid‐lipofuscin in most tissues with characteristic ultrastructural inclusion body patterns in neurons and other cells. Dolichol concentration of the affected dog's brain was similar to those in age‐matched control dog brains. However, concentrations in brain, liver and kidneys were markedly higher than in a slightly younger dog. Biochemical data including lysosomal enzyme activities exclude other lysosomal storage diseases. The clinical and pathological features of this disorder resemble those of the juvenile Spielmeyer‐Vogt type of Batten disease in humans.
Alopecia‐anosmia‐deafness‐hypogonadism syndrome revisited: Report of a new case
Authors: Johnston Kathreen , Golabi Mahin , Hall Bryan , Ito Melanie , Grix Art , Reynolds James F. 
Published: June 2005

AbstractJohnson et al [1983] reported on a large family with alopecia‐anosmia‐deafness‐hypogonadism syndrome. We report the detailed findings of an unrelated, affected individual and emphasize the presence of hypohidrosis in our case. Our case indicates that this syndrome is not a private syndrome.
BrDU‐Giemsa labeling studies of satellite associations in parents of children with trisomy 21 or 13
Authors: Gould Sandra Lee , Martin‐DeLeon Patricia A. , Reynolds James F. 
Published: June 2005

AbstractStudies on satellite association (SA) in parents of trisomy 21 offspring have not provided meaningful comparisons of SA frequencies since the latter was not expressed as a function of cell division number. We have used BrDU‐labeling to compare SA frequencies in first and second division metaphases from lymphocytes of parents with either a trisomy 21 or trisomy 13 child and a control group. Parental origin of nondisjunction was determined in three of six families using quinacrine heteromorphisms. In the two cases of trisomy 13 determined, the errors occurred in maternal meiosis.BrDU‐labeled metaphases were analyzed for SA frequency in four groups: (A) parents contributing the extra chromosome; (B) spouses of the parents in A; (C) parents (nine) in whom the origin of a trisomy 13 or 21 was unknown; and (D) healthy controls (five). The mean numbers of SAs/cell and of chromosomes/SA were not significantly different among the four groups for both first and second division cells. Sex and age showed no effect on SA frequency. There were significant decreases in mean numbers of SA/cell and chromosomes/SA in second‐division cells (chromatids differentially stained) compared with first‐division cells (chromatids undifferentiated). In second‐division cells, two‐chromosome SAs of all types showed random concordant and discordant alignment in each subject. The results from this BrDU‐labeling approach provide no evidence that either quantitative or qualitative parameters of SA are directly related to a tendency of nondisjunction. They also show that acrocentric nondisjunction occurs in the presence of random chromatid alignment in SAs.
Duplication 3p21→3pter and cyclopia
Authors: Kurtzman Daniel N. , Van Dyke Daniel L. , Rich Candace A. , Weiss Lester , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a patient with an interchromosomal duplication of 3p, from 3p21 to 3pter, which apparently arose de novo. The infant had multiple malformations including holoprosencephaly and cydopia. It is possible that duplication 3p has a generalized effect on the holoprosencephalon or the cleavage of the embryonic forebrain. Fibroblasts from the patient are available from the NIGMS Human Genetic Mutant Cell Repository (GM 7216).
Proteus syndrome: An expanded phenotype
Authors: Clark Robin Dawn , Donnai Dian , Rogers John , Cooper Jane , Baraitser Michael , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on 11 new cases of Proteus syndrome to illustrate the broad range of the phenotype in this hamartomatous dysplasia. The cardinal manifestations of this sporadic disorder are hemihypertrophy, macrodactyly, exostoses, scoliosis, cavernous hemangiomas, lipomas, linear sebaceous nevi, and deeply rugated soles of the feet. Intelligence is usually normal. The differential diagnosis includes Klippel‐Trenaunay‐Weber and partial lipodystrophy syndromes.
Applications of the pattern variability index (σz) to the quantification of dysmorphogenesis in the hand
Authors: Garn Stanley M. , Leonard William R. , Poznanski Andrew K. , Reynolds James F. 
Published: June 2005

AbstractWe have generated percentiles for the pattern variability index (σz) of the hand in 1,088 normal infants, children, and adults and have analyzed pattern variability indices for 820 individuals representing 50 congenital malformation syndromes with respect to the normal percentiles. The majority of the affected individuals exhibited elevated (σz) values for the hand, some vastly in excess of normal, while such syndromes as Down, Turner, and the Prader‐Willi syndrome were low rather than high in pattern variability of the hand.
Melnick‐needles syndrome in males
Authors: Krajewska‐Walasek M. , Winkielman J. , Gorlin R. J. , Reynolds James F. 
Published: June 2005

AbstractMelnick‐Needles syndrome is an X‐linked dominant trait, lethal in males. There are three well‐documented lethal examples of the disorder in the offspring of affected females and three examples in males born to normal parents who represent new mutations.
Melnick‐needles syndrome in males: A lethal multiple congenital anomalies syndrome
Authors: Donnenfeld Alan E. , Conard Katrina A. , Roberts Nancy S. , Borns Patricia Flint , Zackai Elaine H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA male fetus with decreased calvarial mineralization and suspected omphalocele was identified prenatally in a woman with oligohydramnios and Melnick‐Needles syndrome (MNS). At autopsy, exophthaimos, prune belly sequence with urethal atresia and megacystis, tetralogy of Fallot, atrioventricular canal defect, and complete malrotation of the gut were identified. Mandibular hypoplasia and delicate, bowed, irregular, long bones and ribs with widening and deep cupping of the metaphyses were found radiographically. In addition, we review 3 previously reported cases of males with similar, lethal malformations, all born to mothers with MNS. It is our conclusion that these anomalies characterize the male MNS phenotype. A review of all reported viable individuals with MNS identified 2 distinct entities: a mild form found only in females, compatible with normal life expectancy in most cases and inherited in an X‐linked dominant male lethal or sex limited autosomal dominant pattern, and a different, more severe disorder, termed precocious osteodysplasty, found in both males and females and inherited as an autosomal recessive trait.
Microcephaly, micrognathia, and bird‐headed dwarfism: Prenatal diagnosis of a seckel‐like syndrome
Authors: Majoor‐Krakauer D. F. , Wladimiroff J. W. , Stewart P. A. , van de Harten J. J. , Niermeijer M. F. , Neri Giovanni , Reynolds James F. 
Published: June 2005

AbstractMicrocephaly, intrauterine growth retardation, a hellenic nose, and severe micrognathia were diagnosed as a form of bird‐headed dwarfism (Seckel‐like) syndrome in a female infant. In the subsequent pregnancy, monitored by serial ultrasound examinations, severe growth retardation was established at 17 and 20 weeks of pregnancy. The head circumference was disproportionately small in relation to the abdominal circumference and enabled the diagnosis of microcephaly. There was also extreme micrognathia. The pregnancy was terminated, and the diagnosis of a Seckel‐like syndrome of bird‐headed dwarfism was confirmed at autopsy of the male fetus. This variant of bird‐headed dwarfism has probably autosomal recessive inheritance.Ultrasonic assessment of the facial area together with the measurements of fetal head and abdominal circumference are essential in the early prenatal diagnosis of this syndrome in pregnancies of reliably established duration.
Mandibulofacial dysostosis (Treacher Collins syndrome): A new proposal for its pathogenesis
Authors: Sulik Kathleen K. , Johnston Malcolm C. , Smiley Steven J. , Speight Harold S. , Jarvis Bennie E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractAcute exposure to 400 mg/kg 13‐cis retinoic acid (13‐cis F U, isotretinoin, Accutane®) on the ninth day postfertilization in mice (a time that corresponds to the fourth week postfertilization in humans) results in malformations that characterize mandibulofacial dysostosis (MFD, Treacher Collins syndrome). Deficiencies in the infraorbital region and in the mandibular ramus and condyle, abnormalities of the secondary palate, and external ear malformations were observed. Light and scanning electron microscopic analyses of affected embryos illustrate that within 12 hours of maternal 13‐cis RA treatment, markedly excessive (possibly premature) cell death occurs in regions where some of the cells are normally destined to undergo programmed cell death. Previous studies with retinoids have shown that they labilize lysosomal membranes and expand and strengthen regions of programmed cell death. Of particular interest for this study was cell death occurring in the dorsal (proximal) aspects of the maxillary and mandibular prominences of the first visceral arch, the second visceral arch, and the first visceral cleft, areas that correspond to the locations of the first and second arch ectodermal (“ganglionic”) placodes and first closing membrane, respectively. The derivatives of this region are those that are severely affected in MFD. As described in previous reports from this laboratory, 13‐cis RA is known to interfere with neural crest cells, resulting in major craniofacial malformations. However, the exposure times involved were earlier than those described herein. It is hypothesized that effects on the first and second arch ectodermal placodal cells at a time following the release from the neural folds of neural crest cells into the developing cranial region are of great significance in the pathogenesis of MFD. This is in contrast to the prevailing hypothesis that these malformations are the direct result of a primary interference with neural crest cells.
Cytogenetic study in children chronically habituated to inhalation of volatile substances
Authors: Salamanca‐Gómez Fabio , Moreta Germania , Palma Virginia , Garcia Teresa , Navarrete Carmen , Caraza Carlos , Varela Raúl , Hiroishi Mikio , López Moisés , Hernández Silvia , Buentello Leonora , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractDeliberate inhalation of volatile substances is a common and harmful phenomenon among young persons around the world. Clinical and cytogenetic studies were performed in 35 children (33 boys and 2 girls) chronically habituated to inhalation of volatile agents, with the aim to define whether this practice is associated with chromosome abnormalities and if so to what extent. A significant increase in the rate of chromosome abnormalities and in the frequency of sister chromatid exchanges (SCE) was found in sniffers over the values in controls (p < 0.001). Clinical, socioeconomic, and cytogenetic findings are discussed.
Chromosome 18 aneuploidy: Anatomical variations observed in cases of full and mosaic trisomy 18 and a case of deletion of the short arm of chromosome 18
Authors: Urban Bruce , Bersu Edward T. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractCases of full and mosaic trisomy 18 and a body of an infant with the 18p‐syndrome were dissected in detail to compare the anatomical variations associated with these 3 chromosome imbalances involving autosome 18. The types and numbers of morphologic variations present in both the full and mosaic trisomy 18 bodies were similar to the types and numbers of variations seen in all other cases of full trisomy 18 that have been sudied by gross dissection. Apart from an atrial septal defect, the body of the infant with the 18p– imbalance showed only 2 striking defects: (1) deficiencies of the levator palpebrae superioris muscle of the upper eyelid, and (2) absence of the ligament of the head of the femur. The first variation provedes a morphologic basis to explain the ptosis which is observed frequently in effected individual. Absence of the ligament of the head of the femur may be a factor contributing to congenital dislocation of the hip, which is reported occasionally in affecte individual. In addition to providing more detailed information about the phenotype of individual aneuploidy syndromes, studies of cases of single autosomes may provide additional insights about the genotype/phenotype relationships of specific chromosome segmeents.
Partial androgen resistance due to a distinctive qualitative defect of the androgen receptor
Authors: Pinsky Leonard , Kaufman Morris , Levitsky Lynne L. , Reynolds James F. 
Published: June 2005

AbstractUsing whole genital skin fibroblasts, we have characterized a novel androgen receptor mutation in a family with partial androgen resistance. The proposita was born with bilateral labioscrotal folds and a single perineal urogenital orifice. Her similarly affected maternal aunt was raised as a female with the support of gonadectomy and vaginoplasty. The mutant androgen receptor has a normal maximum binding capacity (Bmax), but an increased apparent equilibrium dissociation constant (Kd) with 5α‐dihydrotestosterone (DHT) and 2 synthetic androgens, methyltrienolone (MT) and mibolerone (MB). Preformed mutant DHT‐receptor complexes dissociate (K) at a near‐normal rate, but their MT and MB counterparts dissociate twice as quickly as normal. The native free mutant receptor is not more thermolabile than normal, but its recently dissociated counterpart is. Prolonged incubation of the cells with each of the 3 androgens causes the mutant receptor to acquire a normal increment of increased androgen‐receptor activity. This androgen‐sensitive pattern of misbehavior of the present mutant receptor distinguishes it from those responsible for 3 other families with partial androgen resistance studied previously. These differences will help to identify structure‐function domains on the androgen receptor protein, particularly in conjunction with the use of DNA probes to analyze mutations at the X‐linked androgen receptor locus.
Phenotypic spectrum of 45,X/46,XY individuals
Authors: Rosenberg Carla , Frota‐Pessoa O. , Vianna‐Morgante Angela M. , Chu T. H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on five patients with 45,X/46,XY mosaicism. In these subjects, as well as in 58 individuals from the literature with a similar chromosome constitution, we did not find a preponderance of 46,XY cells among patients showing ambiguous to abnormal male external genitalia when compared to those patients with slight or no virilization. However, the average frequency of 46,XY cells in blood in these mosaic individuals suggests that this sample includes mainly individuals whose mosaicism originated early in embryonic cell division. Those individuals whose mosaicism originated later are not significantly represented in this sample and would have higher frequencies of 46,XY cells. These individuals would be excluded from an intersex sample if they had well‐virilized genitalia. This ascertainment bias suggests that the degree of virilization depends on the frequency of 46,XY cells.
Urofacial (Ochoa) syndrome
Authors: Ochoa Bernardo , Gorlin Robert J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractBetween 1965 and 1986 we saw 36 children with enuresis and urinary tract infection in association with “inversion” of facial expression when laughing. Urologic work‐up of these patients disclosed characteristic findings of mild neuropathic bladder in all cases, with severe urinary tract damage in most of them. The clear association of distortion in facial expression and neuropathic bladder with resultant damage to the genitourinary tract should prompt urological evaluation of individuals with “inversion” of facial expression. About two thirds of the patients also had moderate to severe constipation. We suggest the term urofacial syndrome for this disorder. The occurrence of the disorder in multiple sibs, normal parents, increased parental consanguinity, and equal sex ratio indicate autosomal recessive inheritance.
Interstitial deletion of chromosome 2 (p23p25)
Authors: Penchaszadeh Victor B. , Dowling Patricia K. , Davis Jessica G. , Schmidt Rina , Wapnir Raul A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report a patient with a de novo interstitial deletion of the short arm of chromosome 2 (p23p25). The patient had microcephaly with prominent forehead and occiput, narrow rectangular face, clinodactyly, failure to thrive, delayed psychomotor development, and seizures. Maternal serum α‐fetoprotein was undetectable at 18 weeks of gestation. Heterozygosity at the red cell acid phosphatase locus (SRO‐2p25) and normal levels of red cell malate dehydrogenase (SRO2p23) are findings consistent with the presence of genetic material from bands 2p25 and 2p23.
Clinical variability of partial duplication 1q: A clinical report and literature review
Authors: Rosenthal J. , Abeliovich D. , Carmi R. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA female baby with multiple congenital malformations was born to a father previously known as a carrier of reciprocal translocation, t (l;18) (q25;pll). Her chromosome constitution was 46,XX,−18,derl8,t(l;l8)(q25;pll)pat, namely, partial duplication Iq25→qter. The main manifestations were: macrocephaly, hirsutism, camptodactyly, eye defects, lymphedema, and duodenal atresia. This patient illustrates the phenotype variability expected from such a large duplication of chromosome 1.