bluuebunny/crossref_metadata_2025_split huggingface dataset:
Case of ring chromosome 7: The first report of neuropathological findings
Authors: Tsukamoto Hiroko , Sakai Norio , Taniike Masako , Nakatsukasa Mitsuto , Yoshiwara Wataru , Sakamoto Hiromi , Fujimura Harutoshi , Inui Koji , Okada Shintaro 
Published: June 2005

AbstractWe report on a boy with ring chromosome 7 who had severe mental retardation, growth failure, microcephaly, cleft lip and palate, café‐au‐lait sports, nevus flammeus, and genital abnormalities, and died of pneumonia at age 20 months. On autopsy he had fusion of the anterior cerebral hemispheres, accompanied by agenesis of olfactory bulbs and tracts, closely resembling those found in semi‐lobar holoprosencephaly. In addition, heterotopic Purkinje cell cluster in the cerebellar white matter, absence of pigmentation within the brainstem pigmented neurons, and severe hypomyelination in the whole brain were noted.The patient may represent the most severe manifestation of ring chromosome 7, and this is the first detailed neuropathological report on this subject. © 1993 Wiley‐Liss, Inc.
Prenatal in situ hybridization test for deleted steroid sulfatase gene
Authors: Lebo Roger V. , Lynch Eric D. , Golbus Mitchell S. , Flandermeyer Robert R. , Yen Pauline H. , Shapiro Larry J. 
Published: June 2005

AbstractX‐linked ichthyosis results from steroid sulfatase (STS) deficiency; 90% of affected patients have a complete deletion of the entire 146 kb STS gene on the distal X chromosome short arm (Xp22.3). In these families prenatal diagnosis and carrier testing can be completed in 2 days by hybridizing simultaneously 2 different cosmid probes labeled with fluorescein or Texas red and counterstaining interphase nuclear DNA with DAPI. An STS gene probe labeled with Texas red hybridizes specially to the steroid sulfatase gene on the X chromosome. A second flanking probe labeled with fluorescein hybridizes to both the normal Y chromosome and normal and STS deleted X chromosomes. In this fashion the interphase nuclei of normal males, affected males, normal females, and carrier females can be distinguished unambiguously. Because normal males and carrier females each show two yellow‐green fluorescein spots and one Texas red STS spot, use of this test prenatally requires determining fetal sex independently with repetitive X and Y chromosome specific probes. This procedure can be used with lymphocytes, direct and cultured chorionic villus cells, direct and cultured amniocytes, and fibroblasts. Similar methods are anticipated to be useful for rapid diagnostic assessment of other aneuploid gene disorders. © 1993 Wiley‐Liss, Inc.
Mandibulofacial dysostosis: Report on two Brazilian families suggesting autosomal recessive inheritance
Authors: Richieri‐Costa A. , Bortolozo M. A. , Lauris J. R. P. , Lauris R. C. M. C. , Guion‐Almeida M. L. , Marques D. , Moreti D. 
Published: June 2005

AbstractWe report on mandibulofacial dysostosis in 2 brothers born to normal nonconsanguineous parents, and a girl (F = 1/16) born to normal consanguineous parents. Normal clinical, skeletal, audiologic, and cephalometric studies in the parents, as well as the absense of limp anomalies in these children, exclude the autosomal recessive (Nager and Genée‐Widemann) mandibulofacial dysostoses. The data of the present patients associated with the few additional reports on mandibulofacial dysostosis recurring in sibs, suggest the possibility of an autosomal recessive Treacher Collins‐like mandibulofacial dysotosis. © 1993 Wiley‐Liss, Inc.
Uniparental disomy revisited: The first twelve years
Authors: Engel Eric 
Published: June 2005

AbstractUniparental disomy (UPD), the exceptional derivation of a pair of the offspring chromosomes from one parent only, may be compatible with normal or abnormal development and can result from gamete complementation, chromosome loss in trisomy, or duplication in monosomy, (with or without residual mosaicism) and somatic recombination. In isodisomy, the uniparental pair is a duplicate of a same chromosome DNA template and causes and increased risk or recessive disorder by reduction to homozygosity. In heterodisomy, the pair remains heterozygous, made up of 2 non‐recombinant homologous segments. But both iso‐ and heterodisomy may also cause disruption of the genomic imprints needed for differential expression of some maternal and paternal genes crucial to growth and development. Pure UPD preserves euploidy and, when harmful, is best regarded as a genomic qualitative imbalance by symmetrical excess and loss of parental homologous contribution affecting zygosity and imprint content. Instances of UPD reported till the spring 1992 are reviewed and their deleterious effects are described as they carried out lethality or morbidity by altering imprinting processes, mimicking deletions, generating recessive disorders, or prompting malignant cellular growth. © 1993 Wiley‐Liss, Inc.
Acalvaria: A unique congenital anomaly
Authors: Harris Cheryl P. , Townsend Jeannette J. , Carey John C. 
Published: June 2005

AbstractAcalvaria is a rare malformation usually regarded as a postneurulation defect. It consists of absense of the calvarial bones, dura mater and associated muscles in the presence of a normal skull base and normal facial bones. The condition is frequenctly confused by prenatal ultrasonography with anencephaly or an encephalocele. Whereas the cerebral hemispheres are absent in anencephaly, the cranial contents in acalvaria are generally complete, though some neuropathological abnormality is often present. The presumed pathogenesis of acalvaria is faulty migration of the membranous neurocranium with normal placement of the embryonic ectoderm, resulting in absence of the calvaria but an intact layer of skin over the brain parenchyma. We describe 2 cases of acalvaria, one misdiagnosed ultrasonographically as an occipital encephalocele prenatally. The brain in one fetus demonstrated semilobar holoprosencephaly and micropolygyria, but in the other, was structurally and histologically normal with the exception of hydrocephalus. © 1993 Wiley‐Liss, Inc.
No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families
Authors: Flintoff Wayne F. , Bahuau Michel , Lyonnet Stanislas , Gilgenkrantz Simone , Lacombe Didier , Marçon François , Levilliers Jacqueline , Kachaner Jean , Munnich Arnold , Merrer Martine Le 
Published: June 2005

AbstractA linkage analysis has been performed on 6 two‐generation families with classical Noonan syndrome to determine whether the shydrome is linked to neurofibromatosis type 1 on chromosome 17q or to neurofibromatosis type 2 on chromosome 22q. A significantly negative location score was obtained between 10cM centromeric to and 15 cM telomeric from the neurofibromatosis type 1 locus. A significantly negative lod score was obtained with a marker mapping within the region where neurofibromatosis type 2 is thought to be located. These data indicate that Noonan syndrome is not tightly linked to either neurofibromatosis type 1 or type 2. © 1993 Wiley‐Liss, Inc.
Historical essay: Of monsters and prodigies: The interpretation of birth defects in the sixteenth century
Authors: Walton Michael T. , Fineman Robert M. , Walton Phyllis J. 
Published: June 2005

AbstractIn the sixteenth century, a time of religious and social upheaval, naturalistic theories of generation were joined to ideas that monstrous births were divine signs. In this paper, we explore how medicine and theology were combined to explain the almost cataclysmic religious, social and political events of the century. © 1993 Wiley‐Liss, Inc.
Congenital muscular dystrophy with neurological abnormalities: Association with Hirschsprung disease
Authors: Mandel Hanna , Brik Riva , Ludatscher Ruth , Braun Jacob , Berant Moshe 
Published: June 2005

AbstractWe report on a baby girl with congenital muscular dystrophy (CMD) with neurological abnormalities (“CMD Plus” condition), who also had Hirschsprung disease. This association may indicate a category of congenital muscular dystrophy with involvement of the visceral nervous system. We propose that Hirschsprung disease be added to the list of anomalies pertaining to the “CMD Plus” array, and that CMD should be considered when Hirschsprung disease occurs with central nervous system anomalies. © 1993 Wiley‐Liss, Inc.
Congenital pulmonary lymphangiectasis with chylothorax: A heterogeneous lymphatic vessel abnormality
Authors: Moerman Philippe , Vandenberghe Kamiel , Devlieger Hugo , Van Hole Chris , Fryns Jean‐Pierre , Lauweryns Joseph M. 
Published: June 2005

AbstractWe report on 7 perinatal autopsy cases of primary congenital pulmonary lymphangiectasis (CPL) with bilateral chylothorax. This study demonstrates that primary CPL is often complicated by chylous pleural effusions with ensuing pulmonary hypoplasia. Conversely, CPL appears to be a constant pathological finding in spontaneous congenital chylothorax. These observations indicate a common pathogenesis for both disorders. The basic defects is not an intrinsic lung abnormality, but a developmental error of the lymphatic system resulting in a pulmonary lymphatic obstruction sequence.The cause of CPL is heterogeneous. Apparently, most cases are sporadic occurrences. We report the second instance of CPL in sibs. This indicates that some cases are genetically determined with autosomal recessive inheritance. CPL may also be part of a multiple congenital anomalies (MCA) syndrome such as Noonan, Ullrich‐Turner, and Down syndrome. © 1993 Wiley‐Liss, Inc.
Severe axial anomalies in the oculo‐auriculo‐vertebral (Goldenhar) complex
Authors: Rodríguez José Ignacio , Palacios José , Lapunzina Pablo 
Published: June 2005

AbstractWe have studied 4 infants with oculo‐auriculovertebral (OAV) complex or Goldenhar “syndrome” who also had severe axial anomalies, including multiple vertebral segmentation errors affecting the thoracic and the lumbar spine. One of them presented a previously unreported pattern of vertebral and rib anomalies similar to spondylocostal dysostosis. Three patients had twins, and all 4 patients had other associated non‐skeletal malformations which affected the midline, i.e., cleft lip and palate, esophageal atresia with tracheoesophageal fistula, and ventricular septal defect.The broad extent of the axial anomalies, the association with midline defects and twinning, and the combination in the same patient of two distinct conditions support the concept that OAV complex is a polytopic developmental field defect arising during blastogenesis. © 1993 Wiley‐Liss, Inc.
Jancar syndrome: Mental retardation, spasticity, and distal transverse limbs defects
Authors: Zlotogora Joël , Glick Benjamin 
Published: June 2005

AbstractWe report on a child with mental retardation, spasticity, and distal transverse defects of the limbs born to healthy parents related as first cousin. This is the third child reported to be affected with the syndrome described by Jancar. We confirm the existence of the syndrome as a separate entity and raise possibility that it may be inherited as an autosomal recessive trait. © 1993 Wiley‐Liss, Inc.
Norman‐Roberts syndrome: Clinical and molecular studies
Authors: Iannetti Paola , Schwartz Charles E. , Dietz‐Band Jeanne , Light Elizabeth , Timmerman Julie , Chessa Luciana 
Published: June 2005

AbstractWe report on a 7‐year‐old boy with microcephaly, bitemporal hollowig, low sloping forehead, slightly prominent occiput, widely set eyes, broad and prominent nasal bridge, and severe postnatal growth deficiency. Hypertonia, hyperreflexia, seizures, and profound mental retardation were also present. Brain MRI documented partial agyric cortex with patchy pachygyria, colpocephaly, and hypoplasia of corpus callosum and brain stem, which is consistent with the diagnosis of lissencephaly type I grade 2. On the basis of his phenotypic appearance the patient is considered to have the Norman‐Roberts syndrome. Molecular studies, performed by means of in situ hybridization and DNA probe analysis, did not demonstrate deletion in the Miller‐Dieker/isolated Lissencephaly critical region on the short arm of chromosome 17. © 1993 Wiley‐Liss, Inc.
Multiple pterygium syndrome with body asymmetry
Authors: Willems Patrick J. , Colpaert Cecile , Vaerenbergh Myriam , Van Thienen Marie‐Noëlle , Parizel Paul M. , Van Marck Eric , Schuerwegh Walter H. , Martin Jean‐Jecques 
Published: June 2005

AbstractWe report on a fetus with multiple pterygia in the popliteal, antecubital, intercrural, axillary, and nuchal region, arthrogryposis, camptodactyly, anal atresia, hypospadias, ambiguous genitalia, and neonatal death. Arthrogryposis was much more pronounced at the left than at the right side. Moreover, there was gross body asymmetry with hypoplasia of the left arm, leg, pelvis, and kidney.As this spectrum of anomalies does not fit any of the known multiple pterygium syndromes, this patient adds another clinical entity to the already wide spectrum of multiple pterygium syndromes. © 1993 Wiley‐Liss, Inc.
VACTERL with hydrocephalus: Spontaneous chromosome breakage and rearrangement in a family showing apparent sex‐linked recessive inheritance
Authors: Wang Hungshu , Hunter Alasdair G. W. , Clifford Brian , McLaughlin Margaret , Thompson Diane 
Published: June 2005

AbstractThe rate of spontaneous and mitomycin C induced chromosome breakage and sister chromatid exchange (SCE) was studied in three related cases diagnosed with VACTERL‐H syndrome. There have been recent reports of sporadic patients with VACTERL‐H in whom high rates of chromosome breakage were observed. This has led to the suggestion that some of these patients may represent the severe expression of Fanconi anemia. The pattern of inheritance in our family is highly suggestive of X‐linked recessive inheritance supporting the hypothesis that VACTERL‐H is, at least in some cases, a syndrome and not an association. © 1993 Wiley‐Liss, Inc.
Julia Pastrana, the nondescript: An example of congenital, generalized hypertrichosis terminalis with gingival hyperplasia
Authors: Licsc Jan Bondeson , Miles A. E. W. 
Published: June 2005

AbstractJulia Pastrana (1834–1860) has gained immortality as one of the most extreme cases of generalized hypertrichosis upon record. When she was exhibited for money in the United States and Europe during the years 1855–1860, people thronged to see her, and she was several times described in the medical press of the day. After Julia Pastrana's death in childbirth, her corpse was embalmed in a very life‐like manner, and exhibited all over Europe for several decades. Later, the mummy was believed to be lost, but in 1990 it was discovered at the Oslo Forensic Institute. Some writers have included Julia Pastrana among the cases of congenital hypertrichosis languinosa. However, a microscopic examination of hair samples from the mummy shows that her hairy growth is unmistakably terminal in character, and we propose that she instead was an example of congenital, generalized hypertrichosis terminalis with associated gingival hyperplasia. While many earlier writers have asserted that Julia Pastrana's dentition was abnormal, a radiographic examination of the mummy has shown that she had a complete permanent dentition. © 1993 Wiley‐Liss, Inc.
Screening for carriers of Tay‐Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel
Authors: Broide Etty , Zeigler Marcia , Eckstein Joseph , Bach Gideon 
Published: June 2005

AbstractA screening program for the detection of Tay‐Sachs disease (TSD) carriers in the ultra Orthodox community of Ashkenazi Jews has operated in Israel since 1986. The purpose of this program is the prevention of marriages of 2 heterozygotes. The screened individuals are mostly couples in the engagement process or students in religious high schools. Two mandatory requirements guide this program. First, anonymity of the tested individuals who are identified only by code numbers; second completion of the test results of couples in the engagement process within a few days. The screening program is performed by the determination of hexosaminidase A (Hex A) activity in serum which is repeated in serum and leukocyte extracts in couples where both partners were found in the heterozygote range in the initial tests.The minimal carrier frequency was estimated to be 1:26 or higher, which is higher then in the general Jewish Ashkenazi population. This higher carrier frequency apparently stems from the fact that most members of this community originate from central Europe where the TSD carrier frequency was previously reported to be the highest in the Ashkenazi population. Since the beginning of the screening program no TSD child has been born to newlywed couples of this community in Israel. © 1993 Wiley‐Liss, Inc.
Terminal deletion of 7q presenting in utero with a truncus arteriosus and nonimmune hydrops
Authors: Finley Brent E. , Seguin John H. , Bennett Timothy L. , Ardinger Robert , Burlbaw Jeannette , Levitch Lenna , Keifer Cathy , Pasztor Linda 
Published: June 2005

AbstractTerminal deletion of 7q presents with variable anatomical and developmental findings. This case is the first reported in utero diagnosis based on cytogenetic findings and in utero demonstration of resolving congestive heart failure due to a truncus arteriosus. © 1993 Wiley‐Liss, Inc.
Clarification of subtle reciprocal rearrangements using fluorescence in situ hybridization
Authors: Sullivan Beth A. , Leana‐Cox Julie , Schwartz Stuart 
Published: June 2005

AbstractFluorescence in situ hybridization (FISH) using chromosome‐specific DNA libraries as painting probes was applied in the analysis of six subtle, balanced chromosome rearrangements. Both fresh and older slides, some of which had been previously G‐banded, were used to determine if FISH could identify unambiguously very small amounts of translocated material. Our results indicate that this procedure can clearly and precisely distinguish the specific components of extremely subtle translocations, in different cell types, such as leukocytes, aminocytes, and chorionic villus, and irregardless of preparation age. This ability makes FISH a valuable tool in clinical cytogenetics for the confirmation of preliminary G‐banded karyotypes. © 1993 Wiley‐Liss, Inc.
Carpenter syndrome with normal intelligence: Brazilian girl born to consanguineous parents
Authors: Richieri‐Costa A. , Pirolo L. , Cohen M. M. 
Published: June 2005

AbstractWe report on a Brazilian girl with Carpenter syndrome born to consanguineous parents. She had normal neuropsychological development, postnatal overgrowth, and oligodontia of the permanent teeth. Clinical and genetic aspects are discussed. © 1993 Wiley‐Liss, Inc.
Two siblings with midline field defects and Hirschsprung disease: Variable expression of Toriello‐Carey or new syndrome?
Authors: Jespers A. , Buntinx I. , Melis K. , Vaerenberg M. , Janssens G. 
Published: June 2005

AbstractWe describe 2 sibs with multiple congenital anomalies. The main manifestations include hypoplasia of the corpus callosum and/or cerebellar hypoplasia, Robin sequence, pharyngeal and laryngeal hypoplasia, abnormal ears, excessive neck skin, cardiac defect, and Hirschsprung disease. The presence in 2 sibs born to healthy, consanguineous parents suggests autosomal recessive inheritance. These anomalies must have arisen during blastogenesis; the syndrome resembles most the condition described in 1988 by Toriello and Carey (Am J Med Genet 31:17–23). © 1993 Wiley‐Liss, Inc.
Familial pallister‐hall syndrome: Case report and hormonal evaluation
Authors: Sills Irene N. , Rapaport Robert , Robinson L. Pat , Leiber Caroline , Shih Ling Yu , Horlick Mary N. B. , Schwartz Malcolm , Desposito Franklin 
Published: June 2005

AbstractPallister‐Hall syndrome is a usually lethal dysplasia/malformation syndrome characterized by hypothalamic hamartoblastoma, hypopituitarism, postaxial polydactyly, craniofacial malformations, imperforate anus, and other malformations. We report a familial case in a male infant and his female sib fetus, suggesting autosomal recessive inheritance, or germinal mosaicism for an autosomal dominant mutation, or a segregating submicroscopic chromosome abnormality. Detailed endocrine evaluation on the surviving infant revealed documented pituitary function, pituitary deficit, and hypothalamic deficiency. We suggest that hypothalamic dysfunction contributes to the hypopituitarism seen in pallister‐Hall syndrome. © 1993 Wiley‐Liss, Inc.
Reproductive failure in a patient with neurofibromatosis‐noonan syndrome
Authors: Meschede Dieter , Froster Ursula G. , Gullotta Filippo , Nieschlag Eberhard 
Published: June 2005

AbstractWe report on a 39‐year‐old man with neurofibromatosis‐Noonan syndrome and longstanding infertility. Comprehensive testing did not uncover any significant endocrine abnormalities, but the testicular seminiferous epithelium was found to be severely compromised. While the occasional association of neurofibromatosis with signs of Noonan syndrome has been reported, reproductive failure has not been previously described in this condition. © 1993 Wiley‐Liss, Inc.
Interstitial Duplication of 7(q22→q34)
Authors: Stratton Robert F. , Dupont Barbara R. , Mattern Vicki L. , Schelonka Robert L. , Moore Charleen M. 
Published: June 2005

AbstractWe report on a 3‐year‐old boy with an interstitial duplication of 7(q22→q34), confirmed with fluorescent in‐situ hybridization. He had post‐natal growth retardation, developmental delay, frontal and parietal bossing, deep‐set eyes, strabismus, bilateral optic nerve hypoplasia, and mild dilatation of the cerebral ventricles. His Phenotype was not significantly different from that of the three previously reported patients with interstitial duplication of the smaller segment 7(q22→q31). © 1993 Wiley‐Liss, Inc.
Autosomal imbalance syndromes: Genetic interactions and the origin of congenital malformations in aneuploidy syndromes
Authors: Lurie Iosif W. 
Published: June 2005

AbstractIn some autosomal imbalance syndromes an additional imbalance interferes with the occurrence of the anomalies typical of the syndrome itself. For example, polydactyly was found in patients with “pure” del(3p) more frequently (11/23) than in patients where these deletions were associated with different partial trisomies (2/28). The opposite situation was shown in del(7q) syndrome where various defects of the holoprosencephalic group were found to be rarer in patients with “pure” deletions, than in cases with simultaneous occurrence of various partial trisomies. It suggests the importance of gene interaction in determining the phenotypic picture of autosomal imbalance syndromes. © 1993 Wiley‐Liss, Inc.