bluuebunny/crossref_metadata_2025_split huggingface dataset:
Congenital hypothalamic hamartoma syndrome: Nosological discussion and minimum diagnostic criteria of a possibly familial form
Authors: Encha‐Razavi F. , Larroche J. C. , Roume J. , Migne G. , Delezoide Al. , Gonzales M. , Mulliez N. 
Published: June 2005

AbstractWe report on congenital hypothalamic hamartomas, discovered at autopsy in 3 unrelated fetuses. In the first 2 patients, the tumor was associated with skeletal dysplasia only. In the third patient, it was part of a non‐random congenital malformation association, suggestive of Meckel syndrome. In one family, a previous boy died soon after birth with similar craniofacial and skeletal abnormalities.As far as we know, the association between isolated skeletal dysplasia and congenital hypothalamic hamartomas has not yet been documented in the literature. Nevertheless, a spectrum of skeletal abnormalities has been described in association with congenital hypothalamic “hamartoblastoma” and a constellation of variable visceral malformations under the eponym of “Pallister‐Hall syndrome” (PHS).A detailed analysis of the PHS reported cases shows that only skeletal dysplasia and oro‐facial abnormalities are present constantly. They show similarities with those found in our first 2 cases.These findings prompt us to consider skeletal dysplasia and oro‐facial abnormalities as common denominator and minimum criteria required to define a nosologically distinct, possibly familial entity, which we suggest calling “congenital hypothalamic hamartoma syndrome” (CHHS).
Clinical, biochemical, and neuropsychiatric evaluation of a patient with a contiguous gene syndrome due to a microdeletion Xp11.3 including the Norrie disease locus and monoamine oxidase (MAOA and MAOB) genes
Authors: Collins Felicity A. , Murphy Dennis L. , Reiss Allan L. , Sims Katherine B. , Lewis John G. , Freund Lisa , Karoum Farouk , Zhu Danping , Maumenee Irene H. , Antonarakis Stylianos E. 
Published: June 2005

AbstractNorrie disease is a rare X‐linked recessive disorder characterized by blindness from infancy. The gene for Norrie disease has been localized to Xp11.3. More recently, the genes for monoamine oxidase (MAOA, MAOB) have been mapped to the same region. This study evaluates the clinical, biochemical, and neuropsychiatric data in an affected male and 2 obligate heterozygote females from a single family with a submicroscopic deletion involving Norrie disease and MAO genes. The propositus was a profoundly retarded, blind male; he also had neurologic abnormalities including myoclonus and stereotopy‐habit disorder. Both obligate carrier females had a normal IQ. The propositus' mother met diagnostic criteria for “chronic hypomania and schizotypal features.” The propositus' MAO activity was undetectable and the female heterozygotes had reduced levels comparable to patients receiving MAO inhibiting antidepressants. MAO substrate and metabolite abnormalities were found in the propositus' plasma and CSF. This study indicates that subtle biochemical and possibly neuropsychiatric abnormalities may be detected in some heterozygotes with the microdeletion in Xp11.3 due to loss of the gene product for the MAO genes; this deletion can also explain some of the complex phenotype of this contiguous gene syndrome in the propositus.
Low level mosaicism for a balanced 7;14 translocation in the father of an abnormal 7q + child
Authors: Sciorra Leonard J. , Schlenker Ellen , Toke David , Brady‐Yasbin Sheila , Day‐Salvatore Debra , Lee Ming‐Liang 
Published: June 2005

AbstractA child with a 7q + chromosome abnormality had a father with 0.5% mosaicism for a balanced 7;14 translocation. This mosaicism was not found in 100 fibroblasts. This degree of mosaicism is well below the limits usually detected by standard clinical cytogenetic protocols. However, the one abnormal cell cannot be disregarded in this case, since it can serve as an explanation of the child's genotype. This case serves to illustrate the need for detecting subtle degrees of mosaicism for structural anomalies in humans and brings to question the true population frequencies of mosaic balanced translocation carriers.
Autosomal dominant erythromelalgia
Authors: Finley W. H. , Lindsey J. R. , Fine J.‐D. , Dixon G. A. , Burbank M. K. 
Published: June 2005

AbstractWe present a kindred of 29 persons affected with erythromelalgia (erythermalgia) in 5 generations. This paper updates the family reported by Burbank et al. [1966]. Patients have symptoms of intermittent intense burning limb pain related to increased skin temperature. No successful treatment has been identified, and the pathogenetic mechanism has not been established. Most affected individuals are female.
DNA mutation analysis of Gaucher patients
Authors: Sidransky Ellen , Tsuji Shoji , Martin Brian M. , Stubblefield Barbara , Ginns Edward I. 
Published: June 2005

AbstractWe evaluated 62 Gaucher patients to determine whether patients with similar phenotypes had the same DNA point mutations. Genomic DNA from these Gaucher patients was screened for the 3 most frequent single‐point mutations, occurring in 69% of the 124 patient alleles, and resulting in changes in amino acids 370, 444, and 463. Many different genotypes were observed, at least one of which is present in all 3 types of Gaucher disease. No specific symptom complex could be correlated with a unique genotype. Even the more clinically homogeneous subgroups of Gaucher patients contained several genotypes. This study further emphasizes the need for caution in making clinical predictions on the basis of current genotype analysis, especially since one might not discern a fetus affected with type 2 disease by current DNA studies. The severity of involvement in type 1 disease could also not be predicted. Thus, even limiting our focus to 3 isolated common point mutations, a given genotype cannot be uniquely correlated with a specific prognosis.
Variability of Stickler syndrome
Authors: Zlotogora J. , Sagi M. , Schuper A. , Leiba H. , Merin S. 
Published: June 2005

AbstractStickler syndrome is a dominantly inherited disorder characterized by ocular and nonocular manifestations. The phenotype of the affected patients is known to be variable. Our study of 3 families and a review of the literature show that the variability is mostly interfamilial while in each family less variability is present. In one family all the patients had high myopia and most developed a retinal detachment at a young age. In the second family the major symptoms were cleft palate and characteristic facial changes in presence of mild ocular changes. In the third family, all patients had a marfanoid habitus, high myopia, and mental retardation.Interfamilial variability coupled with intrafamilial similarities in clinical manifestation may indicate that the so‐called Stickler syndrome represents in fact a phenotype and not a single genetic entity.
Canine X‐linked muscular dystrophy as an animal model of Duchenne muscular dystrophy: A review
Authors: Valentine Beth A. , Winand Nena J. , Pradhan Deepti , Moise N. Sydney , de Lahunta Alexander , Kornegay Joe N. , Cooper Barry J. 
Published: June 2005

AbstractCanine X‐linked muscular dystrophy is a spontaneously occurring, progressive, degenerative myopathy of dogs that is clinically and pathologically similar to Duchenne muscular dystrophy in man. The molecular basis for the disease has been shown to be a lack of dystrophin, the protein product of the Duchenne muscular dystrophy gene. Breeding colonies of dystrophic dogs have been established. This report reviews the findings of genetic, clinical, pathologic, molecular biologic, and immunocytochemical studies of the canine model, and compares the features of the canine disease to those of Duchenne dystrophy in man.
Growth hormone deficiency and empty sella syndrome in a boy with dup(x)(q13.3→q21.2)
Authors: Yokoyama Yuji , Narahara Kouji , Tsuji Kazushiro , Moriwake Tadashi , Kanzaki Susumu , Murakami Masae , Namba Hiroshi , Ninomiya Shinsuke , Higuchi Joji , Seino Yoshiki 
Published: June 2005

AbstractA 28/12‐year‐old boy with severe growth failure and mental retardation was found to have a maternally derived tandem duplication of the long arm of X chromosome, dup(X) (q13.3→q21.2). Karyotypic interpretation was further confirmed in this patient by a double gene dose for red blood cell phosphoglycerate kinase. DNA replication study showed that the duplicated X chromosome was always late replicating in peripheral blood lymphocytes as well as in skin fibroblasts from the mother. Endocrine studies in the patient demonstrated growth hormone deficiency. Magnetic resonance imaging of the head then disclosed the empty sella syndrome. This appears to be the first report of a dup(Xq) patient associated with a growth hormone deficiency and the empty sella syndrome. We emphasize that duplication of the proximal Xq in males represents another microduplication syndrome (Thode‐Leonard syndrome).
Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: A new autosomal recessive syndrome
Authors: Richieri‐Costa A. , Pereira Sonia Cristina Silveira 
Published: June 2005

AbstractWe report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysostoses and with other Robin sequence syndromes. We suspect that these patients present a previously undescribed autosomal recessive syndrome.
Two distinct mutations in a single dystrophin gene: Chance occurrence or premutation?
Authors: Laing N. G. , Layton M. G. , Johnsen R. D. , Chandler D. C. , Mears M. E. , Goldblatt J. , Kakulas B. A. 
Published: June 2005

AbstractWe report on a kindred segregating 2 distinct mutations of a dystrophin gene. DNA analysis showed that the second mutation, a deletion, arose in the same gene carrying the primary defect which produced a Becker phenotype in the affected males. The DNA data for this family are reported and the alternative explanations of chance occurrence and premutation are discussed to explain these unusual findings.
New skeletal dysplasia with unique brachydactyly
Authors: Mononen Tarja K. , Karnes Pamela S. , Senac Melvin O. , Falk Rena E. 
Published: June 2005

AbstractWe report on 2 male propositi, their mothers, and a maternal aunt with a new skeletal dysplasia associated with a unique pattern of digital malformation, variable mild short stature, and mild bowleg with proximal overgrowth of the fibula. The digital malformations comprise a pattern of brachydactyly which includes short, abducted thumbs, short index fingers, and markedly short, abducted great toes. The radiographic findings include hypoplastic thumbs and great toes with short first metacarpals and first metatarsals, absent distal phalanges of the index fingers and second toes, and coalescence of the carpal and tarsal bones. Radiographs of the long bones show mild metaphyseal and epiphyseal irregularity, tibial spurs, and relative elongation of the fibulae. The males are very similarly affected whereas the females show phenotypic variation and are generally less severely affected. The family histories from 2 fairly extensive pedigrees suggest X‐linked dominant inheritance.
Case of multivertebral anomalies, cloacal dysgenesis, and other anomalies presenting prenatally as cystic kidneys
Authors: Murr Michel M. , Waziri Mary H. , Schelper Robert L. , Abu‐Youself Monzer 
Published: June 2005

AbstractWe describe a newborn boy on whom prenatal ultrasonography demonstrated intrauterine growth retardation, multiple vertebral anomalies, cystic kidneys, and oligohydramnios. Autopsy findings included multiple vertebral anomalies, cloacal dysgenesis (imperforate anus, vesicorectal fistula, and bilateral renal dysplasia), sacral absence, single umbilical artery, pulmonary hypoplasia, scoliosis, and hexadactyly of the left thumb. Although our case resembles a previously described case, a definitive diagnosis could not be made. The differential diagnosis included a variant of spondylocostal dysostosis and the VATER association.
Vertebral hypersegmentation in a case of the VATER association
Authors: Wulfsberg Eric A. , Phillips‐Dawkins Terri L. , Thomas Ronald L. 
Published: June 2005

AbstractAssociations are statistical clusterings of malformations not known to be polytopic field defects, sequences, or syndromes. The VATER association is a nonrandom association of malformations including vertebral, anal, cardiovascular, tracheoesophageal, genitourinary, and limb defects. The caudal “dysplasia” sequence of lumbosacral vertebral defects, genitourinary abnormalities, and imperforate anus overlaps the VATER association. The cloacal membrane agenesis sequence is a pattern of malformations resulting in the absence of anal, genital, and urinary orifices with associated malformations in surrounding structures. We report on a 37‐week gestation liveborn male with oligohydramnios deformations, tetralogy of Fallot, “H‐type” tracheoesophageal fistula, duodenal atresia, imperforate anus, urethral atresia, undescended testes, absent right kidney with a small dysplastic left kidney, a “cloacal‐like” abnormality of the bladder and distal bowel, and thoracic and lumbar vertebral hypersegmentation. This patient has manifestations of the VATER association, the caudal dysplasia sequence, and the cloacal membrane agenesis sequence. We propose that some of his defects may represent a malformation sequence secondary to excessive embryonic flexion resulting from vertebral hypersegmentation.
Monozygotic twin girls with congenital malformations resembling Fanconi anemia
Authors: Poole Steven R. , Smith Ann C. M. , Hays Taru , McGavran Loris , Auerbach Arleen D. 
Published: June 2005

AbstractMonozygotic (MZ) twin girls, diagnosed at birth to have Fanconi anemia (FA) on the basis of multiple anomalies and an apparently increased baseline chromosomal breakage frequency in one twin, have been followed prospectively for 13 years. They have not developed aplastic anemia or other hematologic manifestations of FA. There was no evidence for increased baseline or diepoxybutane (DEB)‐induced chromosomal breakage in either twin when the studies were repeated in Denver as well as in New York. Since the cellular phenotype must be considered in establishing the diagnosis of FA, these MZ twins should not be classified as affected with FA. Using the scoring system for FA diagnosis developed by Auerbach et al. [1989], the probability coefficients of their having FA based solely on clinical findings, prior to DEB testing, were .75 and .92, respectively. When the combination of their anomalies are taken together, their FA probability coefficient is .98. Through the International FA Registry, 15 additional patients have been identified with an FA probability score of .75 or greater, but who have not developed aplastic anemia and who are DEB negative. These patients, as well as the twins described in this report, are most likely a heterogeneous group and may represent other syndromes like Holt‐Oram, VATER, VACTERL and IVIC, with genetic as well as nongenetic etiologies. These cases demonstrate the importance of testing with DEB or other DNA crosslinking agent in order to discriminate between FA and other syndromes with a similar phenotype.
New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians
Authors: Marles Sandra L. , Greenberg Cheryl R. , Persaud Trivedi V. N. , Shuckett E. Paul , Chudley Albert E. 
Published: June 2005

AbstractWe report on 6 (3 male, 3 female) Manitoba Indian children with hypertelorism and variable combinations of unilateral eye malformations, aberrant anterolateral scalp hairline, and nasal and anal anomalies. These children belong to 4 related families. The parents and 7 other sibs are clinically unaffected. The family histories are otherwise unremarkable. The presence of 2 major malformations in sibs and related individuals (with unaffected parents) suggests that this is a newly described pleiotropic autosomal recessive syndrome. The differential diagnosis includes cryptophthalmos syndrome and several other related malformation syndromes. Although multifactorial determination cannot be excluded, the inbred, isolated population and distribution make autosomal recessive inheritance more likely.
Maternal serum α‐fetoprotein screening and fetal chromosome anomalies: Is lowering maternal age for amniocentesis preferable?
Authors: Kaffe Sara , Hsu Lillian Y. F. 
Published: June 2005

AbstractWe have compared the cytogenetic abnormalities diagnosed prenatally in 1,098 patients referred for amniocentesis because of low maternal serum α‐fetoprotein (MSAFP) to those of 445 patients whose indication was elevated MSAFP and those of 361 patients who had amniocentesis for “maternal anxiety.”Autosomal trisomies, sex chromosome aberrations, and various structural rearrangements were detected in all 3 groups and actually exceeded the age‐related incidence estimates. The frequency of chromosome anomalies in cases studied because of “maternal anxiety” with no prior screening was similar to that in the group referred for low MSAFP (1.38 and 1.27%, respectively). A relatively higher frequency (2.02%) was detected in the group whose indication was elevated MSAFP. Maternal serum screening is designed primarily to recalculate risk figures for Down syndrome, but not for other major chromosome abnormalities. The concept of prenatal screening for chromosome aberrations must therefore be reevaluated. We think that efforts should be directed at making amniocenteses more accessible to patients who request it. “Lowering” maternal age limits to 30 would encompass a greater proportion of pregnancies at risk and would be a step toward more effective prenatal diagnosis for chromosome abnormalities.
Is autism associated with the fragile X syndrome?
Authors: Fisch Gene S. 
Published: June 2005

AbstractIn addition to mental retardation (MR), fragile X [fra(X)] has been associated with other developmental disabilities, autism in particular. Recently, several studies have concluded that the association of fra(X) with autism is at best weak and perhaps nonexistent. This study examined reports of previously published data from an epidemiological perspective to determine if the prevalence of fra(X) among autistic males was significantly different from that among MR males. Nineteen studies of autistic males and 21 studies of MR males were analyzed from 59 examined. Of 5601 MR males tested, 307 (5.5%) were cytogenetically positive. Of 1006 autistic males, 54 (5.4%) were positive. Analysis indicated no statistical difference between these proportions (Z=0.014; p>.50). An odds ratio (OR) was also computed to determine the risk of autism from fra(X). Estimated OR≈︁1.0 [0.73, 1.32]. Attributable risk (AR), the proportionate excess risk of autism associated with exposure to fra(X) was AR≈︁0.0. That is, there was no attributable risk of autism from fra(X). The association of fra(X) with autism may reflect the association with MR that generally accompanies autism, as several earlier reports have noted. However, the similarity in prevalence of fra(X) among autistic and MR males may be biased in that studies which find no instances of fra(X) among autistic males represent 12% of the pooled sample.
Abnormal behaviors of young girls with fragile X syndrome
Authors: Lachiewicz Ave M. 
Published: June 2005

AbstractMothers of 38 young girls with fragile X [fra(X)] between the ages of 4 and 11 years filled out the Child Behavior Checklist. Forty‐seven percent of the girls had T scores > 70 on the hyperactive and social withdrawal scales. Between 26% and 15% of the girls also had high T scores on the depressed scale, on the schizoid‐obsessive scale (for 6 to 11 year olds), on the schizoid on anxious scale (for 4 and 5 year olds), and on the aggressive scale. Although a high score on a scale of the Child Behavior Checklist does not constitute a medical diagnosis, it can alert clinicians to abnormal behaviors that warrant further assessment. These behaviors may also alert the clinician to the possibility of fra(X) syndrome when they are seen in their patients. The high percentage of girls with fra(X), who seem to have abnormal behaviors, provides good reason to diagnose them in their early years, not just for genetic counseling purposes, but so that they can receive appropriate intervention services.
Problem solving limitations among cytogenetically expressing fragile X women
Authors: Mazzocco Michele M. M. , Hagerman Randi J. , Pennington Bruce F. 
Published: June 2005

AbstractNeurocognitive deficits among fragile X individuals have been reported for both high and low functioning individuals. Recent findings from our research suggest a specific neurocognitive phenotype among fragile X women that is characterized by deficits on tests of frontal lobe functioning. In this paper, we examine in more detail the performance of 10 cytogenetically expressing women and 10 control women on 2 problem solving measures considered sensitive to frontal lobe functions: the Contingency Naming Test and the Tower of Hanoi. The results pertaining to each test suggest that fragile X women, relative to control women, are less able to solve a problem when the difficulty of the problem is increased by requiring simultaneous consideration of additional information. These findings have important implications for remediation strategies designed for affected fragile X individuals.
Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site
Authors: Riggins Gregory J. , Sherman Stephanie L. , Oostra Ben A. , Sutcliffe James S. , Feitell David , Nelson David L. , Van Oost Bernard A. , Smits Arie P. T. , Ramos Feliciano J. , Pfendner Ellen , Kuhl Derek P. A. , Caskey C. Thomas , Warren Stephen T. 
Published: June 2005

AbstractFragile X [fra (X)] syndrome is a frequently encountered form of mental retardation and is inherited as an X‐linked semi‐dominant trait with reduced penetrance. We report here the characterization of a highly polymorphic dinucleotide repeat, DXS 548, which is approximately 150 kb proximal to the fra(X) site and the associated FMR‐1 gene. DXS 548 is tightly linked to the fra(X) syndrome locus (FRAXA) without recombination (LOD = 9.07 with q of 0) in selected families with crossovers between FRAXA and very closely linked flanking markers. This dinucleotide repeat could be useful in determining the parental origin of a new fra(X) mutations and evaluating the role of FMR‐1 in X‐linked non‐specific mental retardation.
Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci
Authors: Gedeon Agi K. , Holman Kathy , Richards Robert I. , Mulley John C. 
Published: June 2005

AbstractGenomic insert DNAs from 45 probes representing 113.4 kb of the X chromosome were screened for AC dinucleotide repeat sequence. Two new AC repeat sequences were identified with length polymorphism based on variation in repeat copy number. One at DXS237 exhibits 44% heterozygosity and is potentially useful for rapid diagnosis and mapping of X‐linked disorders in Xp22.3. The other, at DXS102 in Xq26, has 71% heterozygosity. This marker will improve accuracy of diagnoses by linkage for families with Börjeson‐Forssman‐Lehmann syndrome. Review of the literature has identified 31 PCR based markers on the X chromosome, with minimum heterozygosity of 50%, applicable to the mapping and diagnosis of X‐linked disorders.