bluuebunny/crossref_metadata_2025_split huggingface dataset:
Decrease in thyrocalcitonin‐containing cells and analysis of other congenital anomalies in 11 patients with DiGeorge anamaly
Authors: Palacios José , Gamallo Carlos , García Marcial , Rodríguez José Ignacio 
Published: June 2005

AbstractExperimental studies have demonstrated that the DiGeorge anomaly is due to cranial neural crest abnormalities. In the present study, the quantitation of thyrocalcitonin immunoreactive cells (C‐cells) has been used to evaluate whether cells derived from the cranial neural crest are or are not present in normal proportions in patients with this anomaly. Thyroid sections from 11 such patients and 11 control patients were studied imnmunohistochemically at autopsy in order to determine the number and distribution of thyrocalcitonin containing cells. Patients with DiGeorge anomaly showed thymic and parathyroid aplasia/hypoplasia and cardiovascular defects, such as type B interrupted aortic arch, truncus arteriosus and tetralogy of Fallot. Other associated defects were alobar holoprosencephaly and meningocels (previously unreported defects in this anomaly), arhinencephaly, renal cystic dysplasia, ureterohydronephrosis, esophageal atresia with tracheoesophageal fistula, and cleft lip and palate. The volume density of C‐cells (1.187%) and the mean number of C‐cells per follicle (1.42) was significantly lower in patients with DiGeorge anomaly than in control patients (3.475% and 2.367, respectively). These results indicate a decrease in cells derived from the neural crest in patients with DiGeorge anomaly, and support the hypothesis of a neural crest disturbance as the pathogenetic factor responsible for this anomaly. © 1993 Wiley‐Liss, Inc.
Genomic imprinting: Summary of an NICHD conference
Authors: Wilson Golder N. , Hall Judith G. , de la Cruz Felix 
Published: June 2005

AbstractCompelling evidence for genomic imprinting as a pathogenetic mechanism in humans mandates re‐evaluation of every genetic or multifactorial disease for parent‐of‐origin effects. In an expanding list of malformation syndromes, cancers, growth abnormalities, and chromosomal disorders, phenotypes may be determined by source rather than content of transmitted DNA. A multidisciplinary conference held on April 13–14, 1992, reviewed the substantial impact of genomic imprinting in mouse development and discussed in role in human pregnancy, childhood cancers, chromosomal translocations, X‐inactivations, and several disorders associated with mental retardation. Topics for future research include the mechanism, timing, reversibility, and homology of the imprinting process. © 1993 Wiley‐Liss, Inc.
Lack of X inactivation: Loss of one X inactivation center in a case with mos45,X, –21, +der(21)t(X;21) (p21.3;p11.2)/46,X,t(X;21) (p21.3;p11.2)
Authors: Ishikiriyama Satoshi , Iai Mizue , Tanabe Yuzo 
Published: June 2005

AbstractWe present a girl with a mos45,X, −21, +der(21)t(X;21) (p21.3;p11.2)/46,X,t(X;21) (p21.3;p11.2) chromosome constitution. The ratio of these cells was 59/26 in phytohemagglutinin (PHA)‐ stimulated lymphocytes. The 45,X,der(21) t(Xp–;21p+) cells lacked an X inactivation center located at Xq13 on the derivative X chromosome; in these cells, the whole normal X chromosome and the distal part of Xp translocated onto the derivative chromosome 21 were early replicating. She had moderate mental retardation and other findings different from those that occur in the Ullrich‐Turner syndrome. Her phenotype may be due to the functional excess of the distal part of Xp on the derivative 21 in 45,X,der(21)t(Xp–;21p+) cells; thus, this might be another type of the “lack of X‐inactivation” syndrome. © 1993 Wiley‐Liss, Inc.
Cancer in twins of Wilms tumor patients
Authors: Olson Jane M. , Breslow Norman E. , Barce Jean 
Published: June 2005

AbstractWe interviewed families of 71 patients registered in the National Wilms Tumor Study and identified as having a twin sibling. Questions concerning zygosity and the occurrence of congenital anomalies and other forms of cancer in the twins were asked. Of the 71 twin pairs, 35 were dizygotic, 31 were monozygotic, and 5 were of unknown zygosity. The only pair concordant for Wilms tumor was dizygotic, leading to a heritability estimate of zero. In a monozygotic pair, one twin was diagnosed with Wilms tumor and the other with medulloblastoma. The estimated relative risk of Wilms tumor and childhood cancer in the co‐twin was 250 times and 10 times the population rate, respectively. Four discordant pairs had a family history of Wilms tumor, suggesting that the penetrance of the condition is not complete. Because of the small sample size, caution should be exercised in the interpretation of these results. © 1993 Wiley‐Liss, Inc.
The Costello syndrome
Authors: Say Burhan , Güçsavaş Müge , Morgan Harley , York Cindy 
Published: June 2005

AbstractIn 1971 and again in 1977, Costello reported on two unrelated children with multiple congenital malformations associated with growth and developmental retardation and nasal papillomata (Costello, NZ Med J 74:397, 1971; Costello, Aust Paediatr J 13:114–118, 1977). Subsequently, two similar cases were described (Der Kaloustian et al., Am J Med Genet 41:69–73, 1991; Martin and Jones, Am J Med Genet 41:346–349,1991). Costello syndrome is now a distinct entity. We describe another patient who additionally had hitherto unreported malformations, such as hydrocephalus, seizures, atrial fibrillation, and flutter with atrial septal defect. Although no nasal lesions were found he had laryngeal papillomata associated with a congenital web. A skin biopsy showed no evidence of lipid or mucopolysaccharide storage disease and muscle biopsy was normal by gross and electron microscopic examination. © 1993 Wiley‐Liss, Inc.
Multiple meningiomas in a patient with constitutional ring chromosome 22
Authors: Petrella Rena , Levine Seymour , Wilmot Patrick L. , Ashar Kunjlata D. , Casamassima Anthony C. , Shapiro Lawrence R. 
Published: June 2005

AbstractWe report on a patient with multiple congenital anomalies and ring chromosome 22 who died at age 16 years of bronchopneumonia. Autopsy documented multiple psammomatous meningiomas of the spinal dura and tentorium. Tumor tissue for cytogenetic analysis was not available. Although abnormalities of chromosome 22 in tumor tissue have been reported, to our knowledge, this is only the third report of a constitutional chromosome 22 abnormality associated with the development of meningiomas. Thus, a constitutional chromosome 22 abnormality may predispose to the development of meningiomas. © 1993 Wiley‐Liss, Inc.
Adaptive behavior in the fragile X syndrome: Profile and development
Authors: Wiegers A. M. , Curfs L. M. G. , Vermeer E. L. M. H. , Fryns J. P. 
Published: June 2005

AbstractIn this study we present data on the adaptive behavior profile and on the development of adaptive functioning in 39 fragile X [fra(X)] males, age 4–26 years. Social adaptability is relatively well developed as compared to cognitive level and especially self‐help skills continue to grow with age despite a stagnation in intellectual growth. © 1993 Wiley‐Liss, Inc.
Hypomandibular faciocranial dysostosis: Another case and review
Authors: Ludman Mark D. , Vincer Michael J. , Cron Charles , Aguiar Maria , Cohen M. Michael 
Published: June 2005

AbstractWe report on a third case of hypomandibular faciocranial dysostosis and review the literature. Manifestations include craniosynostosis, prominent eyes, deficient midface and zygomatic arches, short nose with anteverted nares, protruding lower face, minute oral aperture, persistent buccopharyngeal membrane, and severe mandibular hypoplasia. In contrast to coronal synostosis found in the 2 earlier cases, our patient had multiple sutural synostosis. The 2 affected sibs reported earlier suggest the possibility of autosomal recessive inheritance. However, gonadal mosaicism for a dominant mutation or an undetected microdeletion must also be considered at this early stage in the delineation of this disorder. © 1993 Wiley‐Liss, Inc.
Isodicentric X chromosome and mosaicism: Report on two cases of 45,X/46,X,idic(Xq)/47,X,idic(Xq),idic(Xq) and review of the literature
Authors: Melaragno Maria Isabel , Fakih Laila M. A. , Cernach Mirlene C. S. P. , Maccagnan Paulo 
Published: June 2005

AbstractWe present 2 instances of Ullrich‐Turner syndrome with mosaicism 45,X/46,X,idic(Xq)/47,X,idic(Xq),idic(Xq) and X‐isochromosomes with 2 C‐bands. The mosaicism with the 3 cell lines point to the presence of the isodicentric chromosome in the zygote and a subsequent nondisjunction event. © 1993 Wiley‐Liss, Inc.
Congenital central hypoventilation syndrome: Inheritance and relation to sudden infant death syndrome
Authors: Weese‐Mayer Debra E. , Silvestri Jean M. , Marazita Mary L. , Hoo Joe J. 
Published: June 2005

AbstractWe evaluated the families of 50 children with idiopathic congenital cental hypoventilation syndrome (CCHS) to (1) test genetic hypotheses, (2) explore the relationship to Hirschsprung disease (HD), and (3) examine other clinical findings including sudden infant death syndrome (SIDS) in relatives of CCHS patients. A questionnaire was administered to parents of each proband to determine a detailed pedigree and medical history for 3 generations including 1,482 relatives. The data were analyzed under the unified mixed model method (assumes individual genotype composed of multifactorial [MF] and major locus [ML] components). Analysis was made of the Total dataset and on subdivided data sets: HIR1 = families of probands with HD (n = 8) vs. HIR2 = families of probands without HD; then under a premise that severe, chronic constipation may be a milder form of HD (i.e., ganglion cells present but dysfunctional), CON1 = families of probands with HD or constipation (n = 13) vs. CON2 = families of probands without HD or constipation. By statistical genetic analysis of the Total, HIRI, and CON1 datasets, the MF and ML hypotheses were about equally likely, with the MF model slightly more parsimonious. Although HIR2 and CON2 datasets indicated no familiality, statistical evidence of heterogeneity between the result of HIR1 and HIR2, or between CON1 and Con2 was lacking. A SIDS incidence of 11.2/1,000 was documented among the relatives of CON1 vs. 1.8/1,000 among relatives of CON2. Our results are consistent with familiality by either MF or ML models. Recurrence risk is likely <5%. The relationship of CCHS to the high familial incidence of SIDS is intriguing and demand further investigation. © 1993 Wiley‐Liss, Inc.
Diagnosis of Huntington disease: A model for the stages of psychological response based on experience of a predictive testing program
Authors: Bloch M. , Adam S. , Fuller A. , Kremer B. , Welch J. P. , Wiggins S. , Whyte P. , Huggins M. , Theilmann J. , Hayden M. R. 
Published: June 2005

AbstractPersons diagnosed as affected with Huntington's disease (HD) may have similar stages of psychological response to the clinical presentation of the illness. Here we describe a model of these stages of response based on our experience during a predictive testing program for HD. During the warning Stage, asymptomatic persons are aware of their risk status for HD and develop defenses which favor adaptation to their genetic risk. In response to the initial signs and symptoms of HD (the Incipient Stage) unconscious working through of this realization occurs while it is still kept out of conscious awareness. When symptoms become obvious such that recognition of disease onset is inevitable (Break‐through Stage) the possibility of the diagnosis of HD is assimilated. After the delivery of the diagnosis during the Adjustment Stage, short‐and long‐term adaptive responses to living with HD occur.Recognition of the stage of psychological response of a patient who presents with HD is important prior to delivering a clinical diagnosis. In a significant minority of cases, the psychological readiness lags behind the clinical symptomatology and premature presentation of diagnosis may result in significant untoward adverse events. Understanding of the stages of response may provide a frame‐work for evaluating the psychological state of the person with HD and determining their readiness to receiving the diagnosis. This model may have relevance to the psychological responses of patients to the diagnosis of other late onset autosomal dominant disorders. © 1993 Wiley‐Liss, Inc.
Thyroid dysgenesis and the dysplasia hypothesis in tuberous sclerosis
Authors: Bereket Abdullah , Wilson Thomas A. 
Published: June 2005

AbstractThyroid dysfunction is rare in tuberous sclerosis, although papillary adenomas (hamartomas) of the thyroid gland have been reported in a few autopsy cases. We describe a child with tuberous sclrosis and primary congenital hypothyroidism secondary to a dysgenetic thyroid gland. To our knowledge, this association has not been reported previously. Although the association of these two disorders in one patient may be merely coincidence, we speculate that the dysgenetic thyroid gland in this patient may represent a “hamartia” as a consequence of the tuberous sclerosis gene. © 1993 Wiley‐Liss, Inc.
Schwartz–Jampel syndrome: An atypical form?
Authors: Figuera Luis E. , Jimenez‐Gil F. Javier , García‐Cruz M. Olga , Cantú José M. 
Published: June 2005

AbstractThe Schwartz–Jampel syndrome (SJS) is an autosomal recessive disorder of myotonia, short stature, “mask‐like” face, blepharophimosis, stiff joints, spinal malalignment, and pectus carinatum. The authors report on a 10‐year‐old girl with expressionless face, blepharophimosis, mild thoracic asymmetry, and myotonic electromyographic pattern, but without osteoarticular, spinal, and statural involvement. This appears to be one of the mildest form of SJS described so far. Contiguous genes could be an explanation for this and other atypical cases of SJS. © 1993 Wiley‐Liss, Inc.
Leukonychia totalis in two sibs
Authors: Frydman Moshe , Cohen Hermann A. 
Published: June 2005

AbstractA sister and a brother, offspring of unaffected consanguineous Arab parents, were found to have leukonychia totalis and flat, wide nails. To our knowledge this is the first report of apparent autosomal recessive transmission of this trait. A parental somatic mutation with gonadal mosaicism may explain the unusual segregation of the trait in this family. © 1993 Wiley‐Liss, Inc.
Tetrasomy 5p mosaicism in a boy with delayed growth, hypotonia, minor anomalies, and an additional isochromosome 5p [46,XY/47,XY, + i(5p)]
Authors: Sijmons Rolf H. , Leegte Beike , Van Lingen Richard A. , De Pater Joke M. , Van Der Veen Anneke Y. , Canho Harrij Del , Bos Carla , Kate Leo P. Ten , Breed Anton S. P. M. 
Published: June 2005

AbstractWe describe a 1‐year‐old boy with a rare de novo 46,XY/47,XY,+ i(5p) mosaicism (ratios 28/3 in peripheral blood lymphocytes and 2/12 in skin fibroblasts). The boy, born after a pregnancy of 34 weeks, had lung hypoplasia, persistent hypotonia, and postnatal growth failure. Craniofacial anomalies were also present. His clinical manifestations correspond to those described in trisomy 5p patients. Prenatal diagnosis on maternal age indication had shown normal male chromosomes in 16 cells in the short term culture of a chorionic villus sampling. Retrospectively, 1 out of 217 cells in this culture showed the i(5p). Several mechanisms could have resulted in the formation of this 46/47, + i(5p) mosaic. Postzygotic local incorrect ligation during chromatid replication, followed by a second replication offers an attractive model on theoretical grounds since it needs only one step to explain both isochromosome formation and mosaicism. Differences between the various tissues in selection pressure on cells with the isochromosome might explain the different ratios of mosaicism found. © 1993 Wiley‐Liss, Inc.
Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism
Authors: Rizzo Renata , Pavone Lorenzo , Micali Giuseppe , Nigro Francesco , Cohen M. Michael 
Published: June 2005

AbstractWe report on a patient with manifestations of encephalocraniocutaneous lipomatosis and Proteus syndrome. Further comparison with other reported patients demonstrates a continuum, not 2 distinct entities that share common manifestations. This continuum supports the concept of somatic mosaicism. © 1993 Wiley‐Liss, Inc.
Cranial base and face in mandibulofacial dysostosis
Authors: Kreiborg Sven , Dahl Erik 
Published: June 2005

AbstractUsing longitudinal roentgencephalometry, we studied craniofacial growth in two children with mandibulofacial dysostosis. In one child, data were supplemented by three‐dimensional reconstructions of CT scans and stereolithographic models of the craniofacial skeleton. Progressive basilar kyphosis was found in both children, the hypothesized cause being bending of the cranial base at the level of the sphenofrontal suture. Such bending acting in concert with abnormal growth of the mandible led to impairment of the airway. We advocate careful monitoring of craniofacial growth and respiratory function in mandibulofacial dysostosis from birth through adolescence. © 1993 Wiley‐Liss, Inc.
Angel‐shaped phalango‐epiphyseal dysplasia (ASPED): Identification of a new genetic bone marker
Authors: Giedion A. , Prader A. , Fliegel C. , Krasikov N. , Langer L. , Poznanski A. 
Published: June 2005

AbstractWe describe a “new” mild malformation of the phalanx, which we call the “angel‐shaped phalanx” (ASP) because of its resemblance to the little angels used for the decoration of Christmas trees. A particular middle phalangeal type of ASPs is found in a distinct variety of multiple epiphyseal dysplasia with marked retardation of bone age and severe coxarthrosis in adult life, previously reported as “hereditary peripheral dysostosis” [Bach‐man, 1967: Proc R Soc Med 60:21–22; Giedion, 1969: Fortschr Rontgenstr 110:507–524]. However, these authors overlooked the unique configuration of the middle phalanges. We renamed the condition “angel‐shaped phalango‐epiphyseal dysplasia (ASPED)”, which may be transmitted in an autosomal‐dominant manner.Six new patients are added, bringing the total to nine patients (two families and two isolated patients). ASPs were seen in five of six children. The ASPs grew into inconspicuous brachydactyly after physeal closure (3/3). The most important additional radiological finding is late and dysplastic development of both femoral heads (5/5), leading to Pertheslike and osteoarthritic changes and severe hip pain in the early thirties (2/2 adults, having reached this age). The marked retardation of carpal bone age may lead to unnecessary clinical evaluation for endocrine disorders. Less frequent clinical manifestations of ASPED are hyperextensibility of the interphalangeal joints (7/9) and hypodontia (4/7).Other types of ASPs are observed in brachyphalangy type C, spondylo‐megepiphyseal‐metaphyseal dysplasia, and other conditions.The concept of mild bone abnormalities as specific markers for genetic disease, as with cone‐shaped epiphyses and now evident in ASPED, may also be useful for ASPs in general. © 1993 Wiley‐Liss, Inc.
Schimke immuno‐osseous dysplasia: Case report and review
Authors: Ludman Mark D. , Cole David E. C. , Crocker John F. S. , Cohen M. Michael 
Published: June 2005

AbstractWe report on a patient with Schimke immunoosseous dysplasia, an autosomal recessive disorder, and review nine patients from the literature. Manifestations include spondyloepiphyseal dysplasia, lymphopenia, signs of defective cellular immunity, and progressive renal disease. This is the first patient known to have the additional findings of thrombocytopenia and microdontia. © 1993 Wiley‐Liss, Inc.
Historical case of dwarfism: Attempted diagnosis
Authors: Wiedemann Hans‐Rudolf 
Published: June 2005

AbstractA brief description is given of a male dwarf painted by the Italian artist Geromo Induno in 1852. This portrayal seems not to have been mentioned previously in the medical literature. Several experts were consulted in an attempt to diagnose the underlying skeletal dysplasia. Most opted for pseudoachondroplasia, with the most detailed argument coming from the subject of this Festschrift. © 1993 Wiley‐Liss, Inc.
Another postnatal‐onset obesity syndrome
Authors: Camera Gianni , Marugo Mario , Cohen M. Michael 
Published: June 2005

AbstractWe describe an apparently newly recognized postnatal‐onset obesity syndrome with short stature, mental deficiency, hypogonadism, micropenis, contractures of the fingers, and cleft lip‐palate. Comparison is made with other postnatal‐onset obesity syndromes, particularly Vasquez syndrome and Urban syndrome. The cause of our patient's syndrome is unknown at present. We encourage the reporting of other cases to help clarify whether our patient represents a separate entity. © 1993 Wiley‐Liss, Inc.
Parental origin of chromosome 4p deletion in Wolf‐Hirschhorn syndrome
Authors: Dallapiccola Bruno , Mandich Paola , Bellone Emilia , Selicorni Angelo , Mokin Vahe , Ajmar Franco , Novelli Giuseppe 
Published: June 2005

AbstractWe report on molecular studies in 7 patients with Wolf‐Hirschhorn syndrome (WHC) not showing an obvious chromosome 4p deletion. Analysis of a set of polymorphic probes mapping in the 4p16.3 region showed the absence of paternal haplotypes in 5 cases, and maternal haplotypes in 2. These observations corroborate evidence for preferential paternal origin of the de novo 4p chromosome deletion. The overall results of molecular studies suggest that the preponderance of paternally derived WHC could be due, rather than to imprinting of this region, to an excess of structural rearrangements in the male meiosis, related to differences between the mechanisms of sperm and egg production. © 1993 Wiley‐Liss, Inc.
Mild Brachmann‐de Lange syndrome. Phenotypic and developmental characteristics of mildly affected individuals
Authors: Moeschler John B. , Graham John M. 
Published: June 2005

AbstractSince 1981, we have identified 3 patients with mild Brachmann‐de Lange syndrome (BDLS) who have had subtle but definite manifestations of the syndrome and mild effects on growth and development.J.G. (B.D. 12/9/72) was first examined at 20 months. He had rather typical craniofacial findings and hirsutism, limitation of full supination of his arms, and brachyclinodactyly of the 5th fingers. IQ was estimated at 65.K.H. (B.D. 10/10/83) was first examined by us at age 9 months and was diagnosed as having “mild” BDLS. At age 5, K.H. has demonstrated relatively normal cognitive development (low average–average IQ of 74) with specific learning problems: weakness of visual‐motor skills, delayed expressive language development, and articulation difficulties. At age 7, he was attending a regular 1st grade classroom, with some special education assistance.M.E.(B.D. 4/19/78) was diagnosed at age 10 years as having “mild” BDLS. His physical changes were more subtle than those of the 2 patients above. At age 10, M.E. was in the regular 4th grade classroom receiving special education support. His IQ was in the borderline‐low‐average range. He had strengths in rote verbal skills, with weaknesses in reading and writing.These 3 patients demonstrate mild BDLS in which characteristic manifestations of the syndrome, particularly craniofacial anomalies, are present and recognizable, but quite subtle, thus making the clinical diagnosis difficult. In addition, the milder physical phenotype is associated with milder cognitive and behavioral consequences. When comparing patients with mild BDLS to those in our practice (4 others) with typical changes, we find that birth weight, absence of major anomalies, and subtlety of craniofacial abnormalities are predictive of mildly affected patients. © 1993 Wiley‐Liss, Inc.