bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of nonrhizomelic chondrodysplasiapunctata (Conradi‐Hünermann syndrome)
Authors: Pryde Peter G. , Bawle Erawati , Brandt Francisco , Romero Roberto , Treadwell Marjorie C. , Evans Mark I. 
Published: June 2005

AbstractChondrodysplasia punctata has been classified into two major types including the rare autosomal recessive “rhizomelic type” and a more common but genetically heterogenous nonrhizomelic type (referrred to by some authors as “Sonradi‐Hünermann (CH) type”). The former is typically lethal, manifesting serious anomalies, and allowing several instances of confident prenatal diagnosis. The latter being milder has more subtle anomalies and prenatal diagnosis has been uncommonly reported (confined to cases diagnosed incidentally by flat‐plate X‐ray examination of the mother in late third trimester, and a case found by directed ultrasound performed in a mandelian affected mother). Cases included (1) a young primigravida thought to be affected with Conradi‐Hünermann syndrome presented at 16 weeks gestation for prenatal diagnosis and counseling. Ultrasound examination of the fetus detected assymetric limb shortness allowing the presumptive diagnosis of an affected fetus which was confirmed after delivery near term. (2) A normal 38‐year‐old multipara with unremarkable family history underwent routine fetal ultrasound evaluation at 18 weeks gestation. Disorganization of the spine, premature echogenicity of femorl epipheses, and frontal bossing with depressed nasal bridge were described. Neonatal examination confirmed suspicion of CH. Case 1 demonstrates the importance of solid clinical diagnosis in Mendelian malformation‐affected parents for directing prenatal diagnostic efforts. Case 2 represents the first index case of CH diagnosed antenatally by ultrasound. Diagnostic clues which must be considered in establishing these diagnoses are discussed, as are some of the difficulties and limitations in antenatal counseling such cases. © 1993 Wiley‐Liss, Inc.
Prenatal diagnosis of Charcot‐Marie‐Tooth disease type 1a by multicolor in situ hybridization
Authors: Lebo Roger V. , Martelli Lucia , Su Ying , Li Lanying , Lynch Eric , Mansfield Elaine , Pua Kong‐Hu , Watson Daniel F. , Chueh Jane , Hurko Orest 
Published: June 2005

AbstractGenetic heterogeneity within the most common genetic neuropathy, Charcot‐Marie‐Tooth disease (CMT) result in about 70% slow nerve conduction CMT1 and 30% normal nerve conduction CMT2. Autosomal dominant CMT1A on chromosome 17p11.2 represents about 70% of CMT1 cases and about 50% of all CMT cases. Three different size CMT1A duplications with variable flanking breakpoints were characterized by multicolor in situ hybridization and confirmed by pulsed field gel electrophoresis and quantitative polymerase chain reaction (PCR) amplification. These different size duplications result in the same CMT1A phenotype confirming that trisomy of a normal gene region results in CMT1A. the smallest duplication does not include the 409 locus used previously to screen for CMT1A duplications. Direct analysis of interphase nuclei from fetuses and at‐risk patients by multicolor in situ hybridization to a commonly duplicated CMT1A probe is informative more often than polymorphic PCR analysis, faster than pulsed field gel electrophoresis (PFGE), and faster, more informative, and more reliable than restriction enzyme analysis. CMT1B restriction enzyme analysis of CMT pedigrees without CMT1A is expected to diagnose another 8% of at‐risk CMT1 patients (total: 78%). © 1993 Wiley‐Liss, Inc.
Is there a relationship between inborn errors of metabolism and extensive mongolian spots?
Authors: Mendez Heirie Miriam Marques , Pinto Laís Izabel Borges , Paskulin Giorgio Adriano , Ricachnevsky NÉLson 
Published: June 2005

AbstractWe report on a case of inborn errors of metabolism in association with extensive Mongolian spots. We suggest that this association may be due to a disequilibrium of metabolism during embryonic development. © 1993 Wiley‐Liss, Inc.
Evaluation of families wherein a single male manifests a phenotype of X‐linked lymphoproliferative disease (XLP)
Authors: Grierson Helen L. , Skare James , Church Joseph , Silberman Teresa , Davis Jack R , Kobrinsky Nathan , McGregor Rebert , Israels Sara , McCarty James , Andrews Lucy G. , Blecha Timothy , Erdman Steve , Obringer Angela , Scharnhorst David , Purtilo David T. 
Published: June 2005

AbstractThe Epstein‐Barr virus (EBV)‐induced diseases of males with X‐linked lymphoproliferative disease (XLP) include fatal infectious mononucleosis (IM), non‐Hodgkin lymphoma (ML), agammaglobulinemia, and aplastic anemia. These phenotypes also occur as sporadic cases in families, and EBV seronegative males in these families must be considered at risk for XLP until they seroconvert normally to EBV. Given that 50% of males inheriting the defective XLP gene die following primary EBV infection, it is vital that they be identified pre‐EBV infection. Here we report result using molecular genetic techniques to provide information as to the relative risks of EBV negative males and potential carrier females in ten families wherein a single male had died of IM. © 1993 Wiley‐Liss, Inc.
Congenital hypothyroidism presenting as apparent spondyloepiphyseal dysplasia
Authors: Eberle Andrea J. 
Published: June 2005

AbstractAn 11‐year‐old boy with short stature, dysplastic epiphyses, and vertebral abnormalities was thought to have spondyloepiphyseal dysplasia. He was subsequently found to have epiphyseal dysplasia secondary to congenital hypothyroidism. The radiographic findings in longstanding congenital hypothyroidism and spondyloepiphyseal dysplasia are compared and a possible mechanism for the dysplasia of hypothyroidism is discussed. © 1993 Wiley‐Liss, Inc.
X‐inactivation pattern in an Ullrich–Turner syndrome patient with a small ring X and normal intelligence
Authors: Zenger‐Hain Julie L. , Wiktor Anne , Goldman Jose , Van Dyke Daniel L. , Weiss Lester 
Published: June 2005

AbstractIn a description of 8 girls who had Ullrich–Turner syndrome (UTS) with a small r(X), mental retardation, and other unusual findings, it was hypothesized that the distinctive phenotype was associated with the loss of the X inactivation center from the r(X) and lack of genetic inactivation of the ring [Van Dyke et al., 1992]. Here, we present a 17‐year‐old young woman with 45,X/46,X,r(X)(?p11q13) mosaicism, Ullrich–Turner syndrome, and normal intelligence. In situ hybridization with the X‐centromere DNA probe DXZ1 (Oncor, Inc., Gaithersburg, MD) was performaed on previously G‐banded slides, and the probe hybridized to the centromere regions of the normal X and the ring. The r(X) appears to be inactivated since a buccal smear demonstrated 5% Barr bodies. Furthermore, DAPI stain and FISH analysis with the X‐centromere DNA probe DXZ1 was employed to distinguish the inactive X from the active X, and verified the presence of a sex chromatin mass in fibroblasts. These observations are consistent with the active‐ring‐X‐and‐mental‐retardation hypothesis since the ring in this patient, although very small, appears to be normally inactivated and she has normal intelligence. © 1993 Wiley‐Liss, Inc.
Clinical, cytogenetic, and molecular evidence for an infant with Smith–Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion
Authors: Zori Roberto T. , Lupski James R. , Heju Zhang , Greenberg Frank , Killian James M. , Gray Brian A. , Driscoll Daniel J. , Patel Pragna I. , Zackowski Joleen L. 
Published: June 2005

AbstractWe describe an infant with del(17) (p11.2p12) whose deleted chromosome was inherited from a mosaic mother. The child had manifestations consistent with Smith–Magenis syndrome. The mother appeared to be of normal intelligence and she had minimal findings of Smith–Magenis syndrome. Separation of chromosome 17 homologues in somatic cell hybrids and molecular studies confirmed the cytogenetic diagnoses and the fact that the mother was mosaic. Furthermore, molecular analysis demonstrated novel breakpoints in this family, with the deletion extending into and completely encompassing the markers duplicated in Charcot‐Marie‐Tooth (CMT) disease. Although this Smith–Magenis syndrome patient is completely deleted for the CMT region, her electrophysiological findings are different from those found in CMT. This is the only reported case of Smith–Magenis syndrome with transmission from a partially affected mosaic mother. Transmission of interstitial deletions from mosaic parents may be more common than thought; therefore, parental chromosomes should be examined when interstitial deletions are identified. © 1993 Wiley‐Liss, Inc.
Natural history of the recombinant (8) syndrome
Authors: Sujansky Eva , Smith Ann C. M. , Prescott Karen E. , Freehauf Cindy L. , Clericuzio Carol , Robinson Arthur 
Published: June 2005

AbstractThe recombinant 8 [Rec(8)] syndrome [rec(8), (8qter→8q22.1::8p23.1→8qter] is due to a parental inv(8)(8pter→8p23.1::8q22.1→8p23.1::8q22.1→8qter). All inv(8) parents we have studied were of Hispanic origin. The Rec(8) phenotype consists of a characteristic set of minor facial anomalies, cardiovascular and other major malformations, and moderate to severe mental retardation. The clinical phenotype is relatively consistent in all published cases; however the natural history of the condition has remained unknown. Retrospective and prospective information on 42 propositi, spanning a period from 5 days to 23 years, allowed us to define the natural history of this syndrome, tabulate the frequency and the evolution of phenotypic abnormalities, and share our experience with different therapeutic approaches. © 1993 Wiley‐Liss, Inc.
DOOR syndrome (deafness, onycho‐osteodystrophy, and mental retardation): A new patient and delineation of neurologic variability among recessive cases
Authors: Lin Henry J. , Kakkis Emil D. , Eteson Donna J. , Lachman Ralph S. 
Published: June 2005

AbstractWe report the seventeenth case of the recessive form of the DOOR syndrome. The parents were Guatemalan and not known to be consanguineous. The patient had developmental delay, severe sensorineural deafness, and abnormal nails and phalanges in the hands and feet. Urinary 2‐oxoglutarate excretion was normal. The patient was among a subset of DOOR syndrome patients may be useful in discussing the prognosis for newly identified cases. © 1993 Wiley‐Liss, Inc.
Malformations and minor anomalies in non‐trisomic, autosomal aneuploidy
Authors: Cunniff Christopher , Pope Sandra K. 
Published: June 2005

AbstractWe examined the medical records of 43 individuals with non‐trisomic, autosomal aneuploidy evaluated by the Arkansas Genetics Program. Birthweight and the presence of malformations and minor anomalies by organ system were analyzed on each patient. Low birthweight was present in 28% (N = 12) of the patients, 72% (N = 31) of the subjects had a malformation, and 93% (N = 40) had a minor anomaly. Of the entire sample, the most common site of a malformation or minor anomaly was limbs (79%). The most common site of a malformation was the head (21%), eyes (21%), or heart (26%). If a malformation was present, the head was significantly more likely (P<.04) than another body system to be the site of an additional malformation or minor anomaly. A malformation or minor anomaly of the ears was significantly more likely (P<.03) to be present when there was an associated eye anomaly than when no anomaly of the eye was identified. These data have implications for chromosome screening of individuals with malformations or minor anomalies and for the clinical evaluation of those found to have non‐trisomic autosomal aneuploidy. © 1993 Wiley‐Liss, Inc.
Skeletal abnormalities in the Apert syndrome
Authors: Cohen M. Michael , Kreiborg Sven 
Published: June 2005

AbstractThis paper reports on skeletal abnormalities in 38 patients with Apert syndrome. Analysis includes alterations in the shoulders, humeri, elbows, hips, knees, rib cage, and spine (except the cervical spine).Some patients had subacromial dimples and elbow dimples during infancy. Mobility at the glenohumeral joint was limited. Progressive limitation in abduction, forward flexion, and external rotation with growth was virtually a constant finding. The acromioclavicular joint was prominent and sometimes had an angular, pointed appearance clinically. This was often associated with atrophic musculature and winging of the scapulae. Limited elbow mobility was common and usually mild in degree. Decreased elbow extension was most often found with decreased flexion, pronation, and supination occurring less frequently. Limited elbow mobility did not change significantly with growth in contrast to the increasing severity observed in the shoulder joint. Short humeri were a constant finding beyond infancy and genua valga of mild degree were present in many cases.Radiographic examination strongly suggests that the Apert syndrome is characterized by a multiple epiphyseal dysplasia. We found delay in appearance of postnatal ossification centers, particularly in the humeral head, greater tuberosity, capitulum, and radial head. Subsequently, these bones became abnormal in shape. Glenoid dysplasia was observed consistently. The neck of the scapula was very short or absent and the inferior margin of the glenoid cavity was poorly demarcated from the infraglenoid tubercle. The humeral head became oblong in shape with relative prominence of the greater tuberosity which compromised abduction. In the elbow, the capitulum was often small and the radial head was flat in many instances. Subluxation or dislocation of the radial head or angulation of the radial neck was observed in some cases. In the hip joint of some adults, the femoral necks were short and broad with prominence of the greater trochanters. Less common radiographic findings are also discussed. © 1993 Wiley‐Liss, Inc.
Evidence for multi‐site closure of the neural tube in humans
Authors: Van Allen Margot I. , Kalousek Dagmar K. , Chernoff Gerold F. , Juriloff Diana , Harris Muriel , McGillivray Barbara C. , Yong Siu‐Li , Langlois Sylvie , Macleod Patrick M. , Chitayat David , Friedman Jan M. , Wilson R. Doug , McFadden Deborah , Pantzar J. , Ritchie Susan , Hall Judith G. 
Published: June 2005

AbstractFour separate initiation sites for neural tube (NT) fusion have been demonstrated recently in mice and other experimental animals. We evaluated the question of whether the mult‐site model vs. the traditional single‐site model of NT closure provided the best explanation for neural tube defects (NTDs) in humans. Evidence for segmental vs. continuous NT closure was obtained by review of our recent clinical cases of NTDs and previous medical literature.With the multi‐site NT closure model, we find that the majority of NTDs can be explained by failure of fusion of one of the closures or their contiguous neuropores. We hypothesize that: Anencephaly results from failure of closure 2 for meroacranium and closures 2 and 4 for holoacranium. Spina bifida cystica results from failure of rostral and/or caudal closure 1 fusion. Craniorachischisis results from failure of closures 2,4, and 1. Closure 3 non‐fusion is rare, presenting as a midfacial cleft extending from the upper lip through the frontal area (“facioschisis”). Frontal and parietal cephaloceles occur at the sites of the junctions of the cranial closures 3‐2 and 2–4 (the prosencephalic and mesencephalic neuropores). Occipital cephaloceles result from incomplete membrane fusion of closure 4. In humans, the most caudal NT may have a 5th closure site involving L2 to S2. Closure below S2 is by secondary neurulation.Evidence for multi‐site NT closure is apparent in clinical cases of NTDs, as well as in previous epidemiological studies, empiric recurrence risk studies, and pathological studies. Genetic variations of NT closures sites occur in mice and are evident in humans, e.g., familial NTDs with Sikh heritage (closure 4 and rostral 1), Meckel‐Gruber syndrome (closure 4), and Walker‐Warburg syndrome (2–4 neuropore, closure 4). Environmental and teratogenic exposures frequently affect specific closure sites, e.g., folate deficiency (closures 2, 4, and caudal 1) and valproic acid (closure 5 and canalization).Classification of NTDs by closure site is recommended for all studies of NTDs in humans. We conclude that (1) multi‐site NT closure provides the best explanation for NTDs in humans; (2) closure sites are most likely controlled by separate genes expressed during embryogenesis, and variations in rate and location of closures would make embryos more susceptible to environmental and other factors; (3) homologies between the mouse and human genomes may allow linkage studies to be done for families with recurrence of NTDs; and (4) recurrence risks and associated anomalies vary between closure sites, so that more accurate genetic counselling can be given based on the location of the NTD(s) in the proband(s). © 1993 Wiley‐Liss, Inc.
Short rib‐polydactyly syndrome (SRPS) with anencephaly and other central nervous system anomalies: A new type of SRPS or a more severe expression of a known SRPS entity?
Authors: Martínez‐Frías MaríA‐Luisa , Bermejo Eva , Urioste Miguel , Egüés Javier , Soler José A. LÓPez 
Published: June 2005

AbstractWe describe two patients with short rib‐poly‐dactyly syndrome (SRPS) from two unrelated Spanish families. These patients present clinical and radiological characteristics that overlap those of the different established types of SRPS. In addition, one patient had anencephaly and the other patient had severe brain abnormalities with a family history of an older sister with anencephaly, and a brother diagnosed with SRPS. This second family is interesting in that the two affected brothers present with different clinical and radiological findings; for example, one had ovoid tibiae and the other did not. This particular family shows that intrafamiliar variation is also observed within SRPS.It remains unsettled whether these cases might be considered a new type of SRPS or a variant of an established entity or whether the differences between the SRPS represent variability or heterogeneity. Molecular studies may answer this question in the near future. © 1993 Wiley‐Liss, Inc.
Split hand/split foot anomaly in a family segregating a balanced translocation with breakpoint on 7q22.1
Authors: Genuardi Maurizio , Pomponi Maria Grazia , Sammito Vincenza , Bellussi Angelo , Zollino Marcella , Neri Giovanni 
Published: June 2005

AbstractAn apparently balanced translocation, t(2;7)(q21.1;q22.1) was detected in a female patient with bilateral split hand and right split foot. Split hand/split foot (SHSF) segregated as an autosomal dominant character with low penetrance in her family. The translocation was present in 6 of 13 additional relatives investigated, one of whom also had split hand on right. This observation provides further confirmation of the presence of a locus for SHSF on 7q and narrows the critical region to band 7q22.1. Defects caused by alterations of this chromosome region are variable and include manifestations of both syndromal and non‐syndromal SHSF. Review of SHSF cases associated with chromosome 7 abnormalities showed a preferential involvement of the lower limbs and of the right side, suggesting the action of locally restricted developmental resistance mechanisms. © 1993 Wiley‐Liss, Inc.
Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna
Authors: Beighton P. , Sujansky E. , Patzak B. , Portele K. A. 
Published: June 2005

AbstractSkeletal material in the Museum of Pathological Anatomy, Vienna, has been appraised in order to modify existing descriptive designations and to establish diagnoses of specific genetic disorders. In this way osseous material relating to classical genetic syndromes has been identified and will be available for further study.Among the skeletons of adults in the museum, the following genetic conditions could be diagnosed: achondroplasia, Marfan syndrome, cleidocranial dysostosis, and diaphyseal, aclasia. In adult sisters with dwarfism and a rickety bone disorder, the final diagnosis was uncertain. Infantile bone dysplasias, genetic conditions involving the skull, and malformation syndromes which are all represented in the museum are currently being analyzed. © 1993 Wiley‐Liss, Inc.
New finding of Schinzel‐Giedion syndrome: A case with a malignant sacrococcygeal teratoma
Authors: Robin Nathaniel H. , Grace Kimberly , DeSouza Trevor G. , McDonald‐McGinn Donna , Zackai Elaine H. 
Published: June 2005

AbstractWe report on a boy with Schinzel‐Giedion syndrome (SGS) with a previously unreported manifestation, a malignant sacrococcygeal teratoma. This is the second case of SGS to have a malignancy, as one earlier case had a hepatoblastoma. We postulate that the occurrence of 2 uncommon embryonic tumors among these patients with a rare syndrome may mean that risk of malignancy may be a component of this syndrome. © 1993 Wiley‐Liss, Inc.
Pathogenesis of craniofacial and body wall malformations induced by ochratoxin A in mice
Authors: Wei Xin , Sulik Kathleen K. 
Published: June 2005

AbstractOchratoxin A (OA), a mycotoxin commonly found in soils and on moldy food such as cereal grains, is a potent teratogen. The present investigation was designed to examine the teratogenicity of OA administered acutely at early post‐implantation stages in mice, with particular emphasis on the pathogenetic basis of induced malformations. Maternal OA administration on gestational day (GD) 7 or 8 resulted in excessive cell death in selected cell populations. After a single dose of 2–4 mg/kg, excessive amounts of cell death was notable within 6 hours, and persisted to 36 hours post‐treatment. As observed in GD 14 or 18 fetuses, the spectrum of induced craniofacial malformations included exencephaly, midfacial clefting, cleft lip, as well as hypotelorism, and synophthalmia associated with holoprosencephaly. Body wall defects involved either the abdominal wall alone, or in combination with the thoracic wall, resulting in partial or complete exposure of the viscera. Potential mechanisms for OA‐induced selective cell killing are discussed. © 1993 Wiley‐Liss, Inc.
Limb body wall complex: A critical review and a nosological proposal
Authors: Russo Rosa , D'Armiento Maria , Angrisani Pasquale , Vecchione Raffaella 
Published: June 2005

AbstractThe analysis of the literature on limb body wall complex reveals a varied and rather confused spectrum of cases. However, we noticed the presence of at least 2 clearly distinguishable phenotypes. The first phenotype shows craniofacial defects and amniotic bands and/or adhesion; the second—without craniofacial defects—presents urogeniatal anomalies, anal atresia, and abdominal placental attachment, together with a persistence of the extra‐embryonic coelom.We think these 2 phenotypes are the consequence of different pathogenetic mechanisms. The pathogenesis of the first type can be related to an early vascular disruption, while the pathogenesis of the second one is attributable to an intrinsic embryonal maldevelopment.Eight cases of the second phenotype were identified and the pathological findings proving this maldevelopmental origin are described. © 1993 Wiley‐Liss, Inc.
SHORT syndrome and insulin resistance
Authors: Schwingshandl Josef , Mache Christoph J. , Rath Karl , Borkenstein Martin H. 
Published: June 2005

AbstractWe describe a further case of SHORT syndrome. This girl shows nearly all the typical manifestations reported in patients with SHORT syndrome. However, at 14 years she presented with non‐ketotic hyperglycemia. At 161/2 years, the diagnosis of diabetes mellitus secondary to severe insulin resistance was made by intravenous insulin challenge. Insulin resistant diabetes mellitus seems to be a new finding in SHORT syndrome, not previously described in this condition. © 1993 Wiley‐Liss, Inc.