bluuebunny/crossref_metadata_2025_split huggingface dataset:
Fetal disruptions: Assessment of frequency, heterogeneity, and embryologic mechanisms in a population referred to a community‐based stillbirth assessment program
Authors: Luebke Heidi J. , Reiser Catherine A. , Pauli Richard M. 
Published: June 2005

AbstractThe Wisconsin Stillbirth Service Project (WiSSP) is a community‐based program for the investigation of the cause of fetal death. From its inception in 1983 through July 1988, 629 referrals were made to WiSSP. All referrals were assessed for the presence of disruptional characteristics, and 23 were found to have major or primary disruptive effects. Most of these were either early amnion disruption/limb‐body wall disruption (treated as a single group, since analysis suggests a continuum of clinical characteristics) and twin–twin disruptions. Therefore, disruptions accounted for 3.6% of all referrals (including liveborn and miscarriage referrals) to WiSSP. When only stillborn fetuses are considered, approximately 2.4% appear to have died because of disruptions. This makes disruptions one of the most frequent, identifiable causes of late intrauterine death. We estimate that 0.6‐1.4% of all stillborn fetuses die because of early amnion disruption/limb–body wall disruption which, when taken with previous estimates of the frequency of such problems in early miscarriages and liveborn in fants, suggests that these disruptions result in a 95% prenatal mortality rate.We suggest a unified model of likely pathogenetic mechanisms which may help explain the continuum of multisystem involvement seen in those with early amnion disruption/limb body wall disruption. In addition, 3 patients with atypical disruptions are reviewed who exemplify the difficulty and importance of differentiating disruptional and malformational processes.
Angular homeostasis: VI. Threshold processes with bivariate liabilities
Authors: Murphy E. A. , Berger K. R. , Pyeritz R. E. , Sagawa Y. 
Published: June 2005

AbstractThe general structure of the threshold model of multifactorial determination is discussed. It is supposed that in place of a single liability (in Falconer's sense) there are two separate liabilities; and wheter or not the pathological trait is present depends on a non‐additive interaction between the liabilities, so that the region has curved boundaries. The genetics of ontogeny of a process involving spatial orientation (e.g., cardiac ontogeny) is used as a substantive illustration. Genetic analysis of the trait (as contrasted with the liabilities) yields results that on the one hand may seem quite counterintuitive, yet on the other hand they correspond to the kind of bizarre patterns encountered in quasi‐empirical genetic counseling for cleft palate or neural tube defect. The impact of refinement of phenotype made possible by non‐invasive methods is sketched. This model can be generalized to any number of liabilities, independent or not.
Atelosteogenesis type III: A distinct skeletal dysplasia with features overlapping atelosteogenesis and oto‐palato‐digital syndrome type II
Authors: Stern Harvey J. , Graham John M. , Lachman Ralph S. , Horton William , Bernini Philip M. , Spiegel Peter K. , Bodurtha Joann , Ives Elizabeth J. , Bocian Maureen , Rimoin David L. 
Published: June 2005

AbstractWe present 5 cases of a short‐limb dwarfism syndrome whose manifestations overlap those of atelosteogenesis and oto‐palato‐digital syndrome Type II. Clinical, radiographic, genetic, and histologic data are presented which demonstrate differences between our patients and previously reported cases of these other conditions. We conclude that the disorder seen in these children represents a distinct chondrodysplasia for which we propose the name atelosteogenesis Type III.
Craniosynostosis in an infant with an interstitial deletion of 15q [46, XY,del(15)(q15q22.1)]
Authors: Fukushima Yoshimitsu , Wakui Keiko , Nishida Toshiro , Nishimoto Hiroshi 
Published: June 2005

AbstractAn interstitial deletion of 15q [46, XY, del(15)(q15q22.1)] was found in a malformed infant with craniosynostosis. Although the parents had normal chromosomes, the study of heteromorphic markers of chromosome 15 showed that the deleted chromosome 15 was of paternal origin. The 2 previously reported cases with an interstitial deletion of the middle portion of 15q were not complicated with craniosynostosis, and their deleted region did not include 15q15 band. The deletion of chromosome band 15q15 might be responsible for craniosynostosis.
Deletions in chromosome 2 and fragile sites
Authors: Palmer C. G. , Heerema N. , Bull M. 
Published: June 2005

AbstractWe report on 2 patients with de novo deletions of 2q and chromosome constitutions of 46, XY,del(2)(q32.3q33.3) and 46,XX,del(2) (q21q23.2), respectively. Comparisons of breakpoints of interstitial deletions show frequent correspondence to common fragile sites.
X‐linked recessive torsion dystonia in the Philippines
Authors: Kupke Kenneth G. , Lee Lillian V. , Viterbo George H. , Arancillo Jose , Donlon Timothy , Müller Ulrich 
Published: June 2005

AbstractThe occurrence of an X‐linked form of torsion dystonia in the Philippines was demonstrated by the genetic and biochemical analysis of affected males and their relatives. Thirty‐six affected males were ascertained in 21 families by clinical neurologic evaluation. The mean age‐of‐onset of dystonia was 37.9 years with a range from 12 to 52 years. Neurologic symptoms began focally and progressed to either segmental or generalized involvement in all cases. Generalized dystonia developed in 78% of the patients after a mean duration of 6.8 years from the onset of symptoms. A family history of dystonia was elicited in 17 of the 21 kindreds, accounting for a total of 64 males and one possibly affected female, distributed among 224 individuals in 33 sibships. In 18 of the 33 sibships, 2 or more brothers reportedly had dystonia. There were 12 kindreds with a history of multigenerational dystonia. In those, only males of maternal ancestry were affected, and in 7 of these families, maternal grandfathers reportedly had dystonia. There were no instances of male‐to‐male transmission. Cytogenetic analysis did not show any X chromosome abnormalities in 4 affected propositi. Several secondary causes of torsion dystonia were excluded, including Wilson disease, aminoacidopathies, organic acidurias, oligosaccharidoses, and chronic hexosam‐inidase A and B deficiency. These findings substantiate the existence of an X‐linked recessive form of primary torsion dystonia.
Novel isodicentric chromosome 18 in an abnormal infant with a mosaic karyotype [46, XY/46,XY, –18,+ dic(18)(q12.2)]
Authors: Bryke Christine R. , Lindgren Valerie , Fryburg Julie S. , Yang‐Feng Teresa L. 
Published: June 2005

AbstractA previously unreported isodicentric chromosome 18 was discovered in an abnormal infant boy whose mosaic karyotype was 46, XY/46,XY,–18, + idic(18)(q12.2). His constellation of congenital anomalies was typical of the 18q‐syndrome. The clinical and cytogentic characteristics of this patient are reported, and the literature concerning isochromosomes of 18 is reviewed.
Hypogonadotropic hypogonadism in mentally retarded adults with microphthalmia and clinical anophthalmia
Authors: Keppen Laura Davis , Brodsky Michael C. , Michael Judith M. , Poindexter Ann R. 
Published: June 2005

AbstractFive of 13 patients with microphthalmia or clinical anophthalmia studied in an institution of 650 mentally retarded adults had hypogonadotropic hypogonadism. Four males had low testosterone levels and sexual infantilism, manifesting as micropenis with small testes or cryptorchidism. One female had primary amenorrhea. All 5 patients had low gonadotropin levels, confirming a hypothalamic or pituitary basis for their hypogonadism. Thyroxin, thyroid stimulating hormone, prolactin, and A.M. cortisol were also measured and were normal. All patients with hypogonadotropic hypogonadism were chromosomally normal and had variable central nervous system defects, suggesting that they comprise a heterogeneous group of disorders. Microphthalmia or anophthalmia in a mentally retarded patient is associated with hypogonadotropic hypogonadism.
Trisomy 20q caused by der (X)t(X;20)(q28;q11.2)
Authors: Waters Jonathan J. , Gourley David S. , Aitken David A. , Davison B. C. Clare 
Published: June 2005

AbstractA first case of “pure” trisomy 20q (q11.2‐qter) is described in a female child with minor anomalies and developmental delay. This resulted from the inheritance, from a carrier mother, of an abnormal X chromosome: der (X)t(X;20)(q28;q11.2). Involvement of other autosomes has complicated the interpretation of the phenotypic effect of trisomy 20q in previously published case reports.Red cell gene dosage studies using adenosine deaminase (ADA) have confirmed that the proposita is trisomic for 20q. Taken together with RBG staining studies, these results suggest that there is incomplete inactivation, if any, of the autosomal portion of the consistently late‐replicating abnormal X. Unexpectedly, ADA gene dosage results in the carrier mother showed a level of gene expression about half that of normal controls.
Frequency of congenital heart defects in patients with hemophilia
Authors: Jedele Kerry B. , Michels Virginia V. , Gordon Hymie , Gilchrist Gerald S. 
Published: June 2005

AbstractMost structural congenital heart defects (CHD) are thought to be multifactorially determined, but the precise causal factors usually are unknown. One may postulate that vascular events, such as hemorrhage in the developing embryo, could influence morphogenesis of the heart. One method of studying this hypothesis is to determine the frequency of CHD in persons with heritable bleeding diatheses and their families. We reviewed retrospectively medical and family histories of 120 hemophilia A and 14 hemophilia B patients seen in our Genetics Department. The family histories included 1, 126 maternal relatives of hemophiliac patients. We also reviewed the family histories of 138 patients with X‐linked disorders who did not have bleeding diatheses or syndromes associated with CHD; these histories included 960 maternal relatives. There was one confirmed case of a CHD in 134 hemophilia patients, giving a frequency of 0.75% compared to 0.8% in the general population at birth. There was no apparent difference in the frequency of CHD in hemophilia A and B patients compared to the general population or in the relatives of hemophilia patients as compared to control individuals.
Temperament in Williams syndrome
Authors: Tomc Susan A. , Williamson Nancy K. , Pauli Richard M. 
Published: June 2005

AbstractAnecdotal reports suggest that children with Williams syndrome are loquacious, affectionate, charming, open, and gentle. The temperament, or behavioral style, of individuals with Williams syndrome was assessed using standard temperament scales of parental response. Children with Williams syndrome appear, on average, to display higher activity, lower rhythmicity, greater approach, lower adaptability, greater intensity, more negative mood, less persistence, greater distractibility, and lower threshold to arousal than will average children. Older children with Williams syndrome will likely be viewed as “difficult”. Despite this overrepresentation in the “difficult” cluster, on average, this population differs from the usual population of “difficult” children in being approaching, rather than displaying a tendency to withdraw. Parents of a child with Williams syndrome should be apprised of potentially negative temperament characteristics, relieved of the burden of responsibility for having a difficult child who “should” be easy, and counselled, when appropriate, regarding the efficacy of modification of parent‐child interactions with children having the difficult temperament.
A sibship with Roberts/SC phocomelia syndrome
Authors: Holmes‐Siedle Monica , Seres‐Santamaria Agustin , Crocker Mark , Hall Judith G. , Crouchman Marion 
Published: June 2005

AbstractWe report on a family in which 3 sibs have Roberts/SC phocomelia syndrome. One child has survived to age 9 years. The clinical manifestations and the natural history of this syndrome are reviewed.
Familial tetralogy of fallot and glaucoma
Authors: Chen Su‐chiung , D'souza Noreen 
Published: June 2005

AbstractAll 3 daughters of a mother with glaucoma had a conotruncal abnormality of the heart and glaucoma. The presence of heart and eye anomaly may be coincidental; however, both may be related to abnormal development of neural crest. The pedigree suggests autosomal dominant inheritance in this family.
Unilateral VATER association
Authors: Syed Shamsuddin A. , Onizuka Keiko , Yamanobe Yuji , Fuji Tohru , Namba Katsuya 
Published: June 2005

AbstractWe describe a case of unilateral “VATER association.” In addition to the VATER manifestations, the patient had hemihypoplasia, unilateral congenital paralysis of a leg, and delayed ossification of the femoral head and carpal bones. All of the manifestations involved the left side of the body. The only drug exposure identified was a Chinese herbal medicine taken by the mother during early pregnancy.
Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs
Authors: Chitayat David , Hall Judith G. , Couch Robert M. , Phang Min S. , Baldwin Virginia J. 
Published: June 2005

AbstractA brother and a sister presented with a malformation syndrome consisting of facial anomalies, distal arthrogryposis with camp‐todactyly of fingers and “hammer toes,” severe mental retardation, and hypopituitar‐ism. The girl is now 6½ years old and exhibits severe mental retardation. She has abnormal secretion of growth hormone and responded to growth hormone therapy. Her brother was born with the same facial manifestations, distal contractures, and hypopituitarism. He died unexpectedly at age 3 months of no apparent cause. The occurrence of the syndrome in 2 sibs of different sex suggests auto‐somal recessive inheritance.
Adjacent‐2 disjunction of a maternal t(9;22) leading to duplication 9pter→q22 and deficiency of 22pter→q11.2
Authors: Pivnick Enikö K. , Wilroy R. Sid , Summitt John B. , Tucker Barbara , Herrod Henry G. , Tharapel Avirachan T. 
Published: June 2005

AbstractThe proposita presented at birth with multiple congenital anomalies including craniofacial anomalies, bilateral cleft lip and palate, abnormalities of the urogenital system, talipes equinovarus, and the DiGeorge sequence. Cytogenetic investigation showed a 46,XX,‐ 22,+der(9)t(9;22)(q22;q11.2) karyotype. The mother, maternal uncle, and maternal grandmother of the infant are carriers of a reciprocal balanced translocation involving chromosomes 9 and 22 at regions q22 and q11.2, respectively. The unbalanced karyotype seen in the proposita arose due to an adjacent‐2 disjunction of the quadrivalent in the mother. Prenatal diagnosis of the second pregnancy of this woman showed a similar karyotype. Review of the literature shows that adjacent‐2 disjunction may occur preferentially when certain chromosomes are involved in translocations.
Rokitansky sequence in association with the facio‐auriculo‐vertebral sequence: Part of a mesodermal malformation spectrum?
Authors: Wulfsberg Eric A. , Grigbsy Tamara M. 
Published: June 2005

AbstractWe report on a 4‐year‐old first‐born mono‐zygotic twin girl with a hypoplastic left face, mandible and zygoma, left microtia without an external auditory canal, a U‐shaped cleft palate, right ectopic‐fused kidneys, a blindly ending vaginal pouch, and absent uterus. We review 3 other cases with the manifestations of the Rokitansky and the facio‐auriculo‐vertebral sequence. The anomalies in these disorders can be thought of as deriving from an early defect or disruption in fetal mesoderm or its progenitor tissue at the time of primitive streak formation. They are frequently associated with other mesodermally derived defects or sequences and may together represent an extended polytopic field defect. While such speculation on how these spatially separated anomalies develop is probably simplistic, the concept of a mesodermal “malformation” spectrum is helpful in reminding the clinician to look for other mesodermal defects when one mesodermally derived defect or sequence is detected.
The syndrome of hirschsprung disease, microcephaly, unusual face, and mental retardation
Authors: Halal Fahed , Morel Johanne 
Published: June 2005

AbstractHere we report on a boy with Hirschsprung megacolon associated with microcephaly, narrow palpebral fissures, broad nasal bridge, congenital heart defect, cryptorchidism, wide‐base gait, short stature, developmental delay and abnormal computed tomography (CT) brain scan. The findings are compared with those of previously described patients with the same syndrome.
The Cohen syndrome: Does mottled retina separate a finnish and a jewish type?
Authors: Kondo Ikuko , Nagataki Shigetoshi , Miyagi Nobuo 
Published: June 2005

AbstractA new familial cases of the Cohen syndrome in two brothers of one‐half second‐cousin parents is reported. Typical clinical manifestations of the syndrome; i.e., mental deficiency, hypotonia, characteristic facial appearance, long, narrow hands and feet with elongated fingers, and mottled retinae were present in both patients. Both patients also had leukopenia. Clinical manifestations of the Cohen syndrome in patients are highly variable, and mottled retina has been observed in 22 of 87 patients (25%). However, an association of mottled retina in patients with the Cohen syndrome is likely to be related to the families and ethnic groups. Among 19 familial cases, mottled retina was observed in all affected sibs from five families, but in 13 families none of the affected sibs had the mottled retina. All Finnish patients had the mottled retina, but this was noted in only one of 39 Jewish patients. Based on these data, we hypothesize that two alleles at the gene locus for the Cohen syndrome exhibit different clinical manifestations: one is a Finnish type with mottled retina, and the other is a Jewish type without retinal anomalies.
Second trimester maternal serum pregnancy specific beta‐1 glycoprotein (SP‐1) levels in normal and down syndrome pregnancies
Authors: Petrocik Elizabeth , Wassman E. Robert , Lee J. Jack , Kelly JoAnn C. 
Published: June 2005

AbstractMaternal serum pregnancy specific beta‐1 glycoprotein (SP‐1) levels in the second trimester may be predictive of Down syndrome (DS). An enzyme immunoassay was used to measure SP‐1 sera from 46 DS pregnancies and 117 normal control women matched for maternal age, gestational age, and length of storage. In the normal control samples, there were slight correlations between the SP‐1 concentration and maternal age. The maternal serum SP‐1 levels increased with each week of gestation from 15 to 20 weeks. All but one of the DS sera had SP‐1 levels greater than the normal median. Using a cutoff of 2.8 multiples of the median (MoM), 15.2% of the DS pregnancies were detected with a false‐positive rate of 4.3%. A combinational logistic regression analysis of maternal age and pregnancy related serum proteins will detect additional DS pregnancies and decrease the false‐positive rate. The combination of maternal age and SP‐1 detected 33 (71.7%) of Down syndrome pregnancies. The addition of maternal serumα‐fetoprotein (AFP) and human chorionic gonadotropin (hCG) levels allowed for the detection of 36 (78.3%) of the DS pregnancies with a decrease in the false‐positive rate to 3.4%. The measurement of other serum constituents in conjunction with AFP appears to be a valuable addition to current screening programs, as this can increase the proportion of DS cases detected prenatally.
Severe combined immunodeficiency syndrome associated with autosomal recessive familial multiple gastrointestinal atresias: Study of a family
Authors: Moreno Luis A. , Gottrand Frédéric , Turck Dominique , Manouvrier‐Hanu Sylvie , Mazingue Françoise , Morisot Cyril , Le Deist Françoise , Ricour Claude , Nihoul‐Feketé Claire , Debeugny Pierre , Griscelli Claude , Farriaux Jean‐Pierre 
Published: June 2005

AbstractHereditary multiple atresias involving the gastrointestinal tract from pylorus to rectum are the most unusual form of intestinal atresia; the type of inheritance was suggested to be autosomal recessive. The inheritance of the severe combined immunodeficiency syndrome can be autosomal recessive or X‐linked.We report on 3 sibs with multiple‐level intestinal atresias. One sib had severe combined immunodeficiency syndrome and clinical histories of the other 2 sibs strongly suggested a congenital immunodeficiency syndrome. The parents of those children were healthy and nonconsanguineous.To our knowledge, this is the first report of the association of multiple gastrointestinal atresias and immunodeficiency which appears to have an autosomal recessive pattern of transmission. Our family report suggests that, in the presence of multiple gastrointestinal atresias, attention should be given to possible associated immunological disorders.
Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents
Authors: Aughton David J. 
Published: June 2005

AbstractClinical anophthalmia; unusual facies (sloping forehead, prominent nasal root and bridge, large pinnae, mild micrognathia); dextrocardia; vertebral fusion defects; supernumerary ribs; and normal growth and development in infancy.
On the measurement and interpretation of birth defect associations in epidemiologic studies
Authors: Khoury Muin J. , James Levy M. , Erickson J. David 
Published: June 2005

AbstractThe extent of clustering of 2 or more defects in the same infant can be expressed as the ratio of the observed number of infants with the defects (O) over the expected number of such infants (E). The expected is usually derived from the product of population rates of individual defects. Because large O/E ratios are obtained for many defect combinations, it has been suggested that clustering of defects is generalized and nonspecific. To control for the tendency of nonspecific clustering of defects, an alternative method is to perform the same calculations among multimalformed infants only. A main limitation of this method is that it adjusts for the clustering tendency of all defects rather than the ones of interest, often resulting in spuriously low O/E ratios. We present a new method to adjust for the tendency for nonspecific clustering between defects that overcomes this limitation. With this method, adjusted O/E ratios are inversely related to the proportion of infants who are multimalformed and have one or more of the defects being examined. Using data from the Metropolitan Atlanta Congenital Defects Program, we apply this method to the previously described associations among VACTERL defects and midline or “schisis” defects. We show that adjusted O/E ratios obtained are greater than those obtained by using multimalformed infants. For midline defects, many of the adjusted ratios were close to one, indicating nonspecific clustering of these defects. Finally, using the example of isotretinoin embryopathy, we show that O/E ratios depend highly on the frequency of exposure in the population, and thus, they should be interpreted with caution.
New findings in a patient with dubowitz syndrome: Velopharyngeal insufficiency and hypoparathyroidism
Authors: Lerman‐Sagie Tally , Merlob Paul , Shuper Avinoam , Kauli Rivka , Kozokaro Zilli , Grunebaum Michael , Mimouni Marc 
Published: June 2005

AbstractWe report on a boy with Dubowitz syndrome and hypoparathyroidism from which he recovered, only to redevelop it at 6 years. He also had a submucous cleft palate and cineradiographic studies showed velopharyngeal insufficiency. Although a submucous cleft palate is a well‐known manifestation of Dubowitz syndrome, velopharyngeal insufficiency has not been previously described.
Ulnar agenesis and endocardial fibroelastosis
Authors: Marles Sandra L. , Chudley Albert E. 
Published: June 2005

AbstractWe report on an infant with bilateral ulnar agenesis, radial hypoplasia, oligodactyly, hydrops fetalis, and endocardial fibroelastosis (EFE). The presence of the 2 major malformations and parental consanguinity suggests the possibility of a new autosomal recessive MCA syndrome.