bluuebunny/crossref_metadata_2025_split huggingface dataset:
Heterogeneity and recurrence risk for congenital hydrocephalus (Ventriculomegaly): A prospective study
Authors: Váradi Valéria , Tóth Zoltán , Török Olga , Papp Zoltán , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on 261 prospectively ascertained pregnancies studied to determine the recurrence risk of congenital hydrocephalus. Our results suggest that couples who have had one previous child with hydrocephalus have a recurrence risk of 4%. Such couples should be offered prenatal diagnosis in the second trimester of all subsequent pregnancies. It is suggested that, apart from the X‐linked recessive cases, ventriculomegaly is mostly multifactorially determined.
An unusual cardiomelic syndrome
Authors: Stratton Robert F. , Koehler Nancy , Morrow W. Robert , Reynolds James F. 
Published: June 2005

AbstractWe report on a patient with pre‐ and postnatal growth regardation, bilateral symmetrical ulnar agenesis with monodactyly, atrial septal defect, two ventricular septal defects, Wolff‐Parkinson‐White conduction abnormality, and abnormal configuration of the pancreas. Although she had some facial features reminiscent of the Brachmann‐de Lange syndrome, relatively normal head size and motor development indicate a distinct syndrome.
Molecular cloning and chromosomal localization of a gene coding for human cardiac myosin heavy‐chain
Authors: Matsuoka Rumiko , Chambers Ailsa , Kimura Misa , Kanda Naotoshi , Bruns Gail , Yoshida Michihiro , Takao Atsuyoshi , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractA human cardiac myosin heavy‐chain (MHC) gene, cloned in a charon 4A phage, was isolated using two rat cardiac pCMHC DNA clones (pCMHC26: α‐MHC type; and pCMHC5: β‐MHC type) as probes and shown to correspond to cardiac myosin heavy‐chain of the α‐type. The 4.3‐KB cardiac genomic DNA clone was used as a probe in the Southern analysis of human genomic DNA from human–Chinese hamster or human–mouse somatic cell hybrids. The results show that the human cardiac MHC gene is assigned to chromosome 14 and the human cardiac and skeletal MHC genes do not cosegregate as do the mouse cardiac and skeletal MHC genes.
Agnathia, holoprosencephaly, and situs inversus. Report of a case
Authors: Leech Richard W. , Bowlby Linda S. , Brumback Roger A. , Schaefer G. Bradley , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present the first documented case of agnathia‐holoprosencephaly (an uncommon form of craniofacial anomaly) associated with situs inversus. This case may represent the concordance of multiple field complex anomalies, but the possibility of a major midline malformation (situs inversus) caused by a timed insult (environmental or genetic) which affects multiple structures and occurs concurrently with a major field defect during early embryogenesis cannot be excluded.
47,XXX chromosome constitution, ovarian dysgenesis, and genito‐urinary malformation
Authors: Spear Gerald S. , Porto Manuel , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe the second known reported fetus with 47,XXX chromosome constitution and ovarian dysgenesis, in this instance with an unusual urinary tract malformation, nonimmune fetal ascites and meconium peritonitis.
Deletion mapping of the β‐glucuronidase gene
Authors: Allanson Judith E. , Gemmill Robert M. , Hecht Barbara K. , Johnsen Stanley , Wenger David A. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractGUSB, the gene for β‐glucuronidase, has been localized to the proximal long arm of chromosome 7 between 7q11.2 and 7q22. Deficiency of β‐glucuronidase results in mucopolysaccharidosis type VII (MPS VII, Sly syndrome). The enzymatic defect has been demonstrated in cultured skin fibroblasts, leukocytes and serum of affected patients.An 8‐yr‐old boy presented with manifestations similar to MPS VII (mental retardation, short stature, “coarse” facial appearance, mild skeletal involvement and recurrent lower respiratory tract infection) but other, discrepant abnormalities, e. g., bilateral iris colobomata and cleft palate. Normal activity of β‐glucuronidase was found in the patient's leukocytes. Chromosome analysis disclosed an interstitial deletion of 7q with one breakpoint at the interface between bands 11.22 and 11.23 and the other breakpoint within band 21.1. DNA from this patient's leukocytes was analyzed for dosage of GUSB sequences. This locus appeared to be present at the normal diploid level.These findings suggest that GUSB is not in the portion of chromosome 7 deleted in our case, narrowing the smallest region of overlap to 7q21.1 → 7q22. We therefore assign the β‐glucuronidase gene to 7q21.1 → 7q22.
A new autosomal recessive lethal chondrodystrophy with congenital hydrops
Authors: Greenberg Cheryl R. , Rimoin David L. , Gruber Helen E. , DeSa D. J. B. , Reed M. , Lachman Ralph S. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo sibs, the offspring of consanguineous parents, presented with severe short‐limb dwarfism and distinct chondro‐osseous, radiologic, and histologic appearance. The first sib presented at 30 wk with severe hydrops following fetal death; the second was detected by ultrasonography at 20 wk. Radiologic abnormalities included an unusual “moth‐eaten” appearance of the markedly short long bones, bizzare ectopic ossification centers, and marked platyspondyly with unusual ossification centers. Marked extra‐medullary erythropoiesis was present in both fetuses, and chondro‐osseous histology was characterized by marked disorganization of tissue with interspersed masses of cartilage, bone, and mesenchymal tissue. These sibs appear to have a distinct previously unreported autosomal recessive skeletal dysplasia, which can present as hydrops fetalis.
Inbreeding in outport Newfoundland
Authors: Bear J. C. , Nemec T. F. , Kennedy J. C. , Marshall W. H. , Power A. A. , Kolonel V. M. , Vurke G. B. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe investigated inbreeding in 3 outport Newfoundland study areas in which persistent genetic isolation was demonstrated previously. The inbreeding coefficient of every person born in each area was calculated from reconstructed pedigree data. The average inbreeding coefficient for persons born between 1960 and 1979 is 0.0032 in Trepassey Parish (southern Avalon Peninsula), 0.0171 for a group of communities on the west coast of the Great Northern Peninsula, and 0.0007 for southeastern Labrador. Average inbreeding of these populations was higher earlier in this century. Averages are high compared to those reported for other populations, consistent with genetic isolation. Coefficients of kinship were calculated for large samples of pairs of births in each study area, and frequency distributions of inbreeding coefficients compared with frequency distributions of kinship coefficients, to evaluate random and nonrandom mating with respect to consanguinity. These comparisons show that matings between unrelated individuals are more frequent than expected, that matings between first cousins are not strongly avoided in 2 of the 3 study areas, that matings between first cousins once removed are favored, and that matings between distantly related individuals are becoming more frequent. To gain an impression of the potential contribution of inbreeding to the prevalence of recessive disease, we calculated indirect estimates of the expected excess of prereproductive mortality due to inbreeding. These estimates are 15% for Trepassey Parish, 49% for the West Coast study area, and 2% for southeastern Labrador. It is unlikely that genetic isolation of outport Newfoundland populations will decrease. Elevated prevalences of recessive disease, due primarily to matings between persons unaware of their distant consanguinity, therefore require consideration in health care planning in Newfoundland.
Additive congenital anomaly patterns
Authors: Czeizel Andrew , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractA family study was conducted on 1,038 index patients with unidentified multiple congenital abnormality (MCA) patterns in the population‐based material of the Hungarian Congenital Malformation Registry (HCMR). Congenital abnormalities (CAs) were detected in 5.1% of fathers and in 4.2% of mothers, respectively. Two fathers had an MCA pattern similar to that in their affected child. One component CA of multimalformed index children occurred in 55.1% of fathers and 52.3% of mothers. Thus, in more than half of affected parent–child pairs, there may be a causal connection between the observed anomalies. The combination of CAs of different parental origin in index patients is called “additive CA pattern.” This group of patients may represent about 5% of unidentified MCA patterns and about 50% of affected parent–childpairs.
Discordance of signs in monozygotic twins concordant for the goldenhar anomaly
Authors: Ryan C. Anthony , Finer Neil N. , Ives Elizabeth , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractConcordance for Goldenhar anomaly has been described in monozygotic(MZ) twins on 2 occasions but never in dizygotic (DZ) twins. In both cases the twins were similarly, although not identically, affected. We report on a pair of probably monozygotic twins (8% probability of DZ) who presented with extremely diverse manifestations of this anomaly complex. One of them required a tracheostomy because of obstructive apnea due to severe micrognathia and subsequently died. This twin had a midline lower lip cleft which has not previously been described in the Goldenhar anomaly.
Perfect pitch
Authors: Profita Joseph , Bidder T. George , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractThirty‐five subjects with perfect pitch, representing 19 families, were studied with a Perfect Pitch Questionnaire, which provided information on note‐recognition capacity and musical exposure and training, as well as demographic characteristics. Perfect pitch was found to predominate in females and was detected at a very early age. The significant family incidence of the trait suggests the operation of genetic mechanisms concerning which speculations are presented.
Overgrowth, congenital hypotonia, nystagmus, strabismus, and mental retardation: Variant of dominantly inherited Sotos sequence?
Authors: Goldstein D. J. , Ward R. E. , Moore E. , Fremion A. S. , Wappner R. S. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on 2 patients with macrocephaly, strabismus, esotropia, nystagmus, hypolonia, developmental delay, excessive size, unusual facial appearance, and improvement with age. Many of these abnormalities are present in Sotos sequence. The mothers of both patients share some characteristics with their children. These patients may represent an autosomal dominant form of Sotos sequence.
Relationship between Mayer‐Rokitansky‐Küster (MRK) anomaly and hereditary renal adysplasia (HRA)
Authors: de Cássia M. Pavanello Rita , Eigier A. , Otto P. A. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report the results of a study performed in a sample of women with the Mayer‐Rokitansky‐Küster (MRK) anomaly and in their first‐degree relatives. Our results are compatible with a traditional model of multifactorial determination; however, we cannot exclude the hypothesis of autosomal dominant inheritance, with an intermediate degree of penetrance and a highly variable expressivity of a single mutant gene. In this sense, our data seem to support the idea expressed recently by Opitz [1987].
Discordant expression of the G syndrome in monozygotic twins
Authors: Young I. D. , Dalgleish R. , Mackay E. H. , Macfadyen U. M. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present clinical manifestations of monozygotic male twins with different degrees of expression of the G syndrome. Monozygosity was confirmed using DNA mini‐satellite “fingerprint” analysis. The findings in these twins suggest that expression of the G syndrome can be strongly influenced by theprenatal developmental environment.
Idiopathic multicentric osteolysis. Report of two new cases and a review of the literature
Authors: Pai G. S. , Macpherson R. I. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractIdiopathic multicentric osteolysis is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bones usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of this syndrome. Mental retardation and minor facial abnormalities have been noted in some patients. We report on 2 unrelated, sporadic cases, one with facial anomalies and the other with nephropathy. Our second patient is the first black child to be diagnosed with this disease. The mode of presentation, differential diagnosis, and natural history of this disorder are briefly reviewed.
Achondropiasia is not caused by mutation in the gene for type II collagen
Authors: Francomano Clair A. , Pyeritz Reed E. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractAchondroplasia is the most common human skeletal dysplasia. It is inherited as an autosomal dominant trait but the underlying biochemical cause is unknown. Genomic DNA from 49 affected individuals and two multiplex families with achondroplasia was studied using probes spanning COL2A1, the structural gene for type II collagen. Two lines of evidence speak against mutationin COL2A1 as the cause of achondroplasia: (1) no gross rearrangements areseen on Southern blot analysis of DNA from probands, and (2) linkage studies in multiplex families demonstrate discordant inheritance of achondroplasia and COL2A1 alleles.
Suggestively increased rate of infant death in children of fra(X) positive mothers
Authors: Fryns Jean‐Pierre , Moerman Philippe , Gilis Filip , d'Espallier Luc , Berghe Herman Van Den 
Published: June 2005

AbstractA review of the Leuven data on the fragile X syndrome indicates that sudden infant death is frequently observed in the progeny of obligate female carriers. This observation may be another indication of a central nervous dysfunction in infants with this type of X‐linked mental retardation.
Fragile X syndrome and neoplasia
Authors: Phelan Mary C. , Stevenson Roger E. , Collins Jack L. , Trent Howard E. 
Published: June 2005

AbstractAmong 100 males with fragile X [fra(X)] or Martin‐Bell syndrome, two have developed malignancies. The first case, a 57‐year‐old man with fra(X) expression in 12% of peripheral blood lymphocytes, developed a seminoma of the left testis at age 45 years and in the right testis at age 50 years. The second case, a 16‐year‐old white boy with fra(X) expression in 23% of lymphocytes, developed a mucin‐producing adenocarcinoma of the colon at age 14 years. Because of the unusual nature of the tumors observed in these patients and in 2 other patients from the literature, we suggest that individuals with the fra(X) syndrome may be at increased risk of cancer.
Aneuploidy and the fragile X syndrome
Authors: Watson Michael S. , Breg W. Roy , Pauls David , Brown W. Ted , Carroll Andrew J. , Howard‐Peebles Patricia N. , Meryash David , Shapiro Lawrence R. 
Published: June 2005

AbstractThe possibility that female carriers of the fragile X gene(s) are at increased risk for nondisjunctional events leading to aneuploid offspring has been suggested by several investigators. To better address this question we analyzed pedigrees of 117 families in which the fragile X syndrome is segregating.The 117 pedigrees, originally collected for segregation analyses, included 236 females with offspring whose carrier status was determined by cytogenetic or pedigree analysis or by analyses using flanking DNA markers. These 236 females have had 931 offspring including one 47, XXY and 6 trisomy 21 individuals (1/155). Statistical analysis suggested that the observed rate of trisomy 21 was significantly higher than expected (Fisher's exact test, p 0.05). Assuming a Poisson distribution to calculate the confidence interval for the observed rate of trisomy 21 individuals, we found that the expected rate of 1.6/1000 in this sample fell outside the 99% confidence limits of our observed rate of 1/155. Additional data from a larger sample are needed to replicate these findings.
Growth pattern in boys with fragile X
Authors: Nielsen Karen Brøndum 
Published: June 2005

AbstractThe impression that a proportion of boys with fra(X) may show overgrowth in early infancy was investigated in a small series of 7 boys born after 1970. The fra(X) positive boys had been referred for mental retardation, or were identified in investigations of familial mental retardation. The mean birth weight was increased, and average linear growth was consistently above the mean for Danish boys with the greatest increase in the second year of life. In contrast, the weight measurements were on average below the mean until age 2 years. It is suggested that in fra(X) patients there is a disturbance of early infantile growth.
Anthropometry in Martin‐Bell syndrome
Authors: Loesch Danuta Z. , Lafranchi Maureen , Scott David 
Published: June 2005

AbstractThirty anthropometric measurements were analyzed in 147 adults with Martin‐Bell syndrome (MBS) (56 men and 91 women) and in a random sample of 108 normal women and 111 men. Results of the univariate comparison of the age, height, or weight‐adjusted variables between MBS and normal individuals of either sex indicated that a decrease in stature, in upper limb length, and in upper face height, and an increase in jaw length, chest circumference, and waist width occurred in both affected men and in heterozygous women. While the increase in ear height and breadth and in hypermobility of finger joints and decrease in palm width and bigonial diameter occurred only in affected men, increased bispinal and bitrochanteric diameters, upper arm circumference, and palm and wrist widths were characteristic deviations in heterozygous women.Multivariate analysis in the form of principal components showed some differences in the pattern of interrelationships in individual measures between MBS and normal individuals. In particular, and in contrast with both normal groups, height and weight tended to load on separate components (as did head and midfacial measures) in MBS individuals. A discriminant function based on all body measurements included in this study resulted in almost complete separation of discriminant scores of normal from those of MBS men and in good separation of the scores from normal and heterozygous women. Classification rates based on these functions were from 95% in men to 85% in women. These already high classification rates may be further improved mainly by enlarging the samples and including some other category of traits such as dermatoglyphic measurements.
Preliminary communication: Photoanthropometric analysis of individuals with the fragile X syndrome
Authors: Butler Merlin G. , Allen G. Andy , Singh Dharmdeo N. , Carpenter Nancy J. , Hall Bryan D. 
Published: June 2005

AbstractA photoanthropometric method, which enables an objective description of facial structures, was used to examine 31 boys with the fragile X or Martin‐Bell syndrome below the age of 12 years. The age range was 1.5 to 12 years with an average age of 6.5 years. Facial parameters were measured from strict frontal and profile photographs of fra(X) syndrome boys and compared with other facial measurements from the same face (e.g. mouth width vs. bizygomatic diameter). We studied 18 photoanthropometric facial parameters following the protocol established by Stengel‐Rutkowski et al [1984]. Fourteen indices were calculated and compared with photoanthropometric index standards for age, established from normal children between 0 and 12 years [Stengel‐Rutkowski et al, 1984]. Two of the fourteen craniofacial indices, broad palpebral fissures and decreased inner canthal distance, were significantly abnormal.
A dermatoglyphic study of a group of Sicilian children with fragile‐X syndrome
Authors: Milone G. , Conti L. , Rizzo R. , Sanfilippo S. , Sammito V. , Romano C. 
Published: June 2005

AbstractIn a dermatoglyphic study of 14 fra(X) boys (compared with a control group of 191 normal schoolboys), we observed the following statistically significant (p<0.01) differences: 1) lower frequency of ulnar loops on the fingertips, particularly on the 2nd and 3rd fingers, with a corresponding increase of whorls; 2) transverse course of main line A; 3) increased frequency of abnormal palmar creases. The log score index of Simpson et al [1984] identified 71.4% of our patients and that of Rodewald et al [1986] 64.2%. The different values of these indexes can probably be attributed to ethnic differences. We think that by combining the results of dermatoglyphic analysis from several centers a more discriminatory log score index can be obtained.
Crown size asymmetry in males with fra (X) or Martin‐Bell syndrome
Authors: Peretz B. , Ever‐Hadani P. , Casamassimo P. , Eidelman E. , Shellhart C. , Hagerman R. 
Published: June 2005

AbstractWe measured the mesio‐distal and bucco‐lingual crown diameters of 13 males with the fra(X) or Martin‐Bell syndrome. Fluctuating crown‐size asymmetry was calculated and compared with values obtained in normal Caucasian children and also with a sample of 19 males with Down syndrome. A statistically significant increased asymmetry was found in the fra(X) males when compared to normal control individuals. In the maxilla, Down syndrome males showed a significantly higher tooth crown asymmetry than fra(X) males. (<0.02); in the mandible, no significant differences were found between the 2 groups. It is suggested that crown size asymmetry be included in the evaluation of fra(X) males.
Fragile X syndrome: Neuropathology center
Authors: Brown W. Ted , Rudelli Raul D. , Wisniewski Henry M. 
Published: June 2005

AbstractThere is an acute need for additional neuropathological information in the fra(X) or Martin‐Bell syndrome. We propose a centralized fra(X) neuropathological research center to promote research and understanding of the underlying neuropathologic changes. Brain specimens can be sent to our center for neuropathological analysis. Reports will be sent to the contributing health professionals. Clinicians and relatives are encouraged to request autopsies and to contact the Center regarding brain donations for purposes of research and understanding.
Prevalence of a novel epileptogenic EEG pattern in the Martin‐Bell syndrome
Authors: Musumeci S. A. , Ferri R. , Colognola R. M. , Neri G. , Sanfilippo S. , Bergonzi P. 
Published: June 2005

AbstractIn this paper, we describe a study aiming at establishing the prevalence, specificity, and the sensitivity of a characteristic sleep EEG pattern in patients with Martin‐Bell syndrome, in comparison with a sample of etiologically different mentally retarded patients. The estimation of the prevalence (11% among the total sample), the specificity, and the sensitivity, allows us to propose this pattern as an important “marker”, useful in the diagnosis of the Martin‐Bell syndrome.
The fragile X syndrome: Variability of expression in carrier females
Authors: Howard‐Peebles Patricia N. , Brown W. Ted 
Published: June 2005

AbstractThe fra(X) expression in heterozygotes varies considerably from family to family. In family D23, 5 carriers express the fra(X) regardless of age. DNA studies using 3 markers were inconclusive as to whether cytogenetic testing is more reliable in this family than in others. III‐2 and III‐5 are the critical individuals in the pedigree; further study with closer probes should resolve this question.