bluuebunny/crossref_metadata_2025_split huggingface dataset:
“ADAM complex” (amniotic deformity, adhesions, mutilations)—A pattern of craniofacial and limb defects
Authors: Keller H. , Neuhauser G. , Durkin‐Stamm M. V. , Kaveggia E. G. , Schaaff A. , Sitzmann F. , Holmes Lewis B. 
Published: June 2005

AbstractWe report eight patients with the craniofacial defects and limb anomalies of the (amniotic deformity, adhesions, mutilations) ADAM complex. Facial abnormalities comprise clefts and distortion and dislocation of craniofacial structures; limbs show various combinations of amputation, secondary syndactyly, and constriction. From previous reports and our cases it is obvious that the clinical picture of the ADAM complex varies enormously; a less severe type combines cleft lip and palate with amputations or amniotic bands. Clinical and experimental data suggest that these malformations are of symptomatic (exogenous) origin. Nosologic differentation from other conditions phenotypically similar but of genetic etiology is important for genetic counseling. Observation of the ADAM complex in two members of a family suggests that genetic factors might operate in some cases.
Scanning electron microscopy of teeth in dominant osteogenesis imperfecta: Support for genetic heterogeneity
Authors: Levin L. Stefan , Brady John M. , Melnick Michael , Optiz John M. 
Published: June 2005

AbstractScanning electron microscopic studies were performed on 25 deciduous and permanent teeth from members of 7 kindreds with dominant nonlethal osteogenesis imperfects (OI). Two families had normal teeth on clinical and radiological examination; five familes had blue or brown opalescent teeth with specific radiologic findings. Enamel surfaces and prism organization were normal on all teeth. On fractured surfaces, the dentin tubules of normal teeth from patients with OI were evenly distributed and coursed regularly to the dentin‐enamel junction. Opalescent teeth had few tubules and those present were short, narrow, and tortuous. Dentin calcification fronts of normal teeth were composed of many nodules with regularly spaced openings on their surfaces. Calcification fronts of opalescent teeth were composed of irregularly spaced, small nodules, which varied greatly in size and the nodules lacked tubule openings on their surfaces. The results of this study support the concept that at least two dominant forms of OI exist – one in which all individuals with IO have normal teeth, and the other in which all with OI have blue or brown opalescent teeth with characteristic changes on SEM.
Neurofibromatosis in monozygotic twins: A case report of spontaneous mutation
Authors: Vaughn Arthur J. , Bachman David , Sommer Annemarie , Herrmann Jürgen 
Published: June 2005

AbstractWe report female monozygotic twins with neurofibromatosis. The family history is unremarkable, and careful examination of other family members did not show evidence of the condition. It is concluded that the occurrence in this family is due to a spontaneous mutation arising in one of the parental gametes. This article examines the similarity and difference in manifestations of the disorder in this pair of monozygotic twins.
Clinicopathologic conference: A newborn monozygotic twin with abnormal facial appearance and respiratory insufficiency
Authors: Juberg Richard C. , Stallard Richard , Straughen William J. , Avotri Kosi J. , Washington John W. , Gilbert Enid F. 
Published: June 2005

AbstractThe second of twin males expired of respiratory insufficiency shortly after birth. Unusual facial appearance included prominent forehead, flat nasal bridge, widely separated inner canthi, downward slanting eyes with narrow palpebral fissures, epicanthic folds, small mouth and micrognathia, and apparently low‐set ears; there was also cryptorchidism bilaterally and a simian crease bilaterally. The pregnancy of the 19‐year‐old black woman was not unusual, but polyhydramnios accompanied the delivery of this twin. The twin placentae were diamniotic and monochorionic, one being slightly immature with a two‐vessel cord. We interpreted the karyotype as 46,XY,del(10) (p11–15): The brother and parents were normal.The dysmorphic features of this and three previously reported cases of 10p‐ do not permit definition of a syndrome.These are apparently the first monozygous twins presenting discordance of chromosomal structure; previously reported chromosomal discordance in monozygous twins involved numerical abnormality. Considering that the mechanism of monozygous twinning is not understood, we note that the occurrence of both twinning and a structural aberration in one of the twins suggests the possibility of a common cause.
Survival and spectrum of anomalies in the meckel syndrome
Authors: Lowry R. Brian , Hill Robert H. , Tischler Bluma 
Published: June 2005

AbstractWe present two sisters whose malformations (hydrocephalus, cystic dysplasia of the kidneys, polydactyly, and cleft palate) are consistent with a diagnosis of the Meckel syndrome. Diagnosis in case 1 was delayed because of two factors: (1) prolonged survival (28 mo), and (2) the absence of severe craniofacial malformations. These two factors may create difficulties in making this diagnosis and result in uncertainty regarding the medical prognosis of the infant and the genetic prognosis for the parents.
Unilateral partial tibia defect with preaxial polydactyly, general micromelia, and trigonomacrocephaly with a note on “developmental resistance”
Authors: Wiedemann Hans‐Rudolf , Opitz John M. 
Published: June 2005

AbstractWe report a boy with predominantly unilateral severe tibia defect with a high grade of preaxial polydactyly. Family history suggests the possibility of autosomal dominant inheritance with reduced penetrance and quite variable expressivity. The boy's phenotype and other previously reported examples of predominantly unilateral involvement in autosomal dominant and autosomal recessive limb mutations strongly suggest a hypothesis of developmental resistance in the uninvolved parts.
The Börjeson‐Forssman‐Lehmann syndrome
Authors: Robinson Luther K. , Jones Kenneth Lyons , Culler Floyd , Nyhan William L. , Sakati Nadia , Jones Kenneth Lee , Opitz John M. 
Published: June 2005

AbstractRecently we evaluated a Saudi Arabian family in which a severely affected male and a more mildly affected set of monozygotic (MZ) female twins had manifestations of the Börjeson‐Forssman‐Lehmann syndrome including short stature, hypotonia, mental deficiency, coarse facial appearance with a prominent brow‐ridge, and large ears. We present clinical, radiographic, electroencephalographic, and endocrinologic data to further delineate this condition and set forth the manifestations of two normal, presumably heterozygous, females.
Cataracts and testicular failure in three brothers
Authors: Lubinsky Mark S. , Opitz John M. 
Published: June 2005

AbstractI report on three brothers with a syndrome of adolescent cataracts and infertility. Follicle‐stimulating hormone (FSH) levels were elevated, suggesting testicular failure. Their parents were second cousins, suggesting autosomal recessive inheritance. Hypogonadism and cataracts occur in several syndromes, but with other findings. This association is probably more than fortuitous, and a common pathogenesis may be involved.
A comparison of three affected‐sib‐pair scoring methods to detect HLA‐linked disease susceptibility genes
Authors: Suarez Brian K. , Van Eerdewegh Paul , Opitz John M. 
Published: June 2005

AbstractTwo widely used affected‐sib‐pair scoring procedures (the Green and Woodrow [1977] procedure, and the method of forming all possible affected‐sib‐pairs) are compared with a new method for their relative efficiency in detecting the presence of an HLA‐linked disease susceptibility gene. Their relative performance is investigated by extensive computer simulations over a large number of disease transmission models. On the average, the new procedure appears to outperform the Green and Woodrow method and the “all‐possible‐pairs” method.
Cytogenetic study in a mentally retarded child with bloom syndrome and acute lymphoblastic leukemia
Authors: Werner‐Favre Christiane , Wyss Marinette , Cabrol Christine , Félix Françoise , Guenin Rita , Laufer Daniel , Engel Eric 
Published: June 2005

AbstractBloom syndrome (BS) was diagnosed in a 7‐year‐old boy during hospitalization for acute lymphoblastic leukemia (ALL). The patient had most of the signs of BS along with some atypical manifestations: absence of telangiectases, obesity, and moderate mental retardation. Results of the cytogenetic studies were fully consistent with the diagnosis of BS: the occurrence of quadriradial figures and a very high incidence of sister‐chromatid exchanges (SCE). This child's ALL was of non‐B, non‐T type with the presence, at the time of diagnosis, of a marrow clone including two markers. A Yq– chromosome was detected in about 10% of PHA‐stimulated lymphocytes but neither in bone marrow cells nor in skin fibroblasts. This case is the fifth instance of ALL out of 104 registered cases of BS.
Major gene model for the inheritance of catechol‐o‐methyltransferase activity in five large families
Authors: Siervogel R. M. , Weinshilboum Richard , Wilson A. F. , Elston R. C. 
Published: June 2005

AbstractFive large families including 1,189 individuals were each ascertained through one proband with essential hypertension. Four of the probands were white and one was black. Erythrocyte catechol‐o‐methyltransferase (COMT) activity was measured in 551 family members. Standard statistical methods were used to investigate sex, age, and family differences in COMT activity. Maximum‐likelihood methods were used to fit mixtures of normal distributions to COMT activity. COMT activity is distinctly bimodal. Pedigree segregation analyses were performed on the untransformed COMT values, their square roots, and natural logarithms in each family. In no family and under none of the three transformations was it possible to reject the hypothesis of Mendelian transmission of a major gene with two alleles in Hardy‐Weinberg equilibrium. In most cases a genetic hypothesis with complete dominance or recessiveness, or a hypothesis of equal transmission probabilities was rejected. While the different transformations had a large effect on the skewness and kurtosis of the overall distribution of the data, they had little effect on the outcome of these segregation analyses. Therefore, this study strongly supports the concept that variation in COMT activity is due in large part to the effects of a major gene.
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto‐nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly‐syndactyly: Acro‐fronto‐facio‐nasal dysostosis syndrome
Authors: Richieri‐Costa A. , Colletto G. M. D. D. , Gollop T. R. , Masiero D. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe two sibs born to a consanguineous couple. Among other clinical findings both have mental retardation, short stature, facial and skeletal abnormalities characterized by hypertelorism, broad notched nasal tip, cleft lip/palate, campto‐brachy‐poly‐syndactyly, fibular hypoplasia, and marked anomalies of foot structures. Facial signs of the reported patients resemble those present in the fronto‐nasal “dysplasia” syndrome; however, the whole clinical picture in the present patients suggests a true MCA/MR syndrome, most likely inherited as an autosomal recessive trait. Climcal and genetic aspects of the present family are discussed.
Noonan phenotype associated with neurofibromatosis
Authors: Allanson J. E. , Hall J. G. , Van Allen M. I. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on four patients with neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, “midface hypoplasia,” apparently short webbed neck, learning disabilities, and weakness. No family history of neurofibromatosis was present in any case. Average paternal and maternal age at birth was 37 and 28 years, respectively, suggestive of a new mutation. The presence of a distinct phenotype and hypotonia in these patients with neurofibromatosis is suggestive of a new separate disorder.
DNA polymorphism and the susceptibility to diabetes
Authors: Yokoyama Shozo , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have studied the relationship between the DNA polymorphisms and the development of diabetes in Caucasians and US black populations. The analyses suggest that disease susceptibility differs in the two populations. In a large population with low frequency of diabetes, DNA fragments detected in the studies of the human insulin gene and HLA‐DR regions seem to have a minor role in the development of diabetes. However, the currently available data also show that alleles with insertion in the 5′‐flanking region of the insulin gene in the US black populations induce noninsulin‐dependent diabetes fivefold more often than in white populations. To draw a more reliable conclusion, further DNA polymorphism surveys in different ethnic groups need to be conducted.
An X‐linked recessive basal ganglia disorder with mental retardation
Authors: Laxova Renata , Brown Eleanor S. , Hogan Kirk , Hecox Kurt , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report a previously apparently undescribed, X‐linked recessive basal ganglia disorder segregating in three generations of one family. The affected patients were variably mentally retarded, although some showed strengths in oral reading and memory. Most affected males had frontal bossing and increased head circumference with large calvaria in relation to facial bones. Their height and weight did not differ from that of other relatives; testicular size was average, chromosomes were normal, and results of laboratory investigations for known metabolic disorders were normal.All patients examined had neurological impairment, including persistent frontal lobe reflexes, cogwheel rigidity, postural changes, and Parkinsonian‐type tremors. Some had strabismus; several had seizures.Although carriers of the condition were not consistently abnormal, two had suggestive signs. No definitive indication of the disorder was documented in infancy in any affected male, and it is possible that this could be due to lack of careful prospective clinical evaluation rather than to the absence of symptoms in early life.
Reduction of fragile X expression in blood after cryopreservation
Authors: Shimanuki Keiko , Lin Ming S. , Wilson Miriam G. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractFrequency of fragile X expression was investigated before and after cryopreservation (−196°C) in the blood of 4 affected males, 3 fragile X carriers and in a fibroblast cell strain from a fragile X male fetus. The results indicate that there is a significant decrease (p < 0.05) in the frequency of the fragile X expression in lymphocytes after cryopreservation, as compared to the fresh blood, but not in fibroblasts. This suggests that cryopreserved blood specimens may not be suitable for fragile X analysis.
A de novo translocation, 14q21q, with a microchromosome—14p21p
Authors: Abeliovich Dvorah , Katz Miriam , Karplus Michael , Carmi Rivka , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA familial translocation, t(14;21)(14p21p;14q21q), in a mother and her child is described. The translocation was ascertained through the birth of a Down syndrome baby with the chromosome constitution 47,XX,‐14, +der 14, +der 21,t(14;21)(q11; p12) mat. A 1:3 segregation in the maternal meiosis is suggested for the evolution of the unbalanced chromosome state. The main translocated chromosome 14q21q mimics the product of a Robertsonian translocation, while the 14p21p chromosome has the morphology of a satellited microchromosome. The cytogenetic nature of this translocation is discussed.
An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei
Authors: Osebold William R. , Lester Edward L. , Remondini David J. , Spranger Jürgen W. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThis paper describes seven persons in a family affected with an autosomal dominant syndrome of short stature with mesomelic shortness of upper and lower limbs, abnormal carpal and tarsal bones, hypoplastic or absent middle phalanges of hands and feet, and delayed coalescence of bipartite calcanei. All affected relatives are of normal intelligence, are free of eye problems, and have a normal skull, spine, shoulders, and hips. The digits of the hands and feet are short, broad, and angulated. The hypoplastic or absent middle phalanges effectively result in one interphalangeal joint for each digit, with decreased mobility. The bones of the carpus and tarsus coalesce with increasing age. None of the previously described syndromes or brachydactylies encompasses the findings noted in this kindred.
High dose folic acid treatment of fragile (X) males
Authors: Brown W. Ted , Cohen Ira L. , Fisch Gene S. , Wolf‐Schein Enid G. , Jenkins Valerie A. , Malik Mazhar N. , Jenkins Edmund C. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe conducted an experimental trial of high‐dose folic acid given to five males, ages 8 to 26 years, with the fra(X) syndrome. In this double blind study, each subject received 250 mg per day of folic acid for 3 months, followed by placebo for 3 months, and folic acid again for an additional three months. Based on IQ tests, behavior ratings, the Austistic Descriptors Checklist, and parental ratings, there was little evidence to suggest any positive effects seen during the administration of high‐dose folic acid. Therefore, this study has provided little support for a hypothesis of benefit of high‐dose folic acid in the treatment of the fra(X) syndrome.
Mouse chromosome fragility
Authors: Sanz Maureen M. , Jenkins Edmund C. , Brown W. Ted , Davisson Muriel T. , Kevin Monica J. , Roderick Thomas H. , Silverman Wayne P. , Wisniewski Henryk M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWhen cultures of fibroblast‐like cells from inbred mouse strains RBC/Dn and AEJ/GnRk were exposed to 5‐fluoro‐deoxyuridine (FUdR), non‐random strain‐specific distributions of chromosome gaps, breaks and exchanges were observed. Throughout the genomes there appeared to be specific sites at which lesions occurred preferentially. Two strain‐specific fragile sites were identified in strain RBC/Dn at G‐band 15A2, and at G‐band 19B in strain AEJ/GnRk. Constitutive fragile sites at G‐bands 12A2 and 18A2 were identified in both strains. A strain‐specific marker at G‐band 9B was found in strain AEJ/GnRk. The fragile sites reported here provide an animal model for the study of chromosome fragility as well as polymorphic markers for linkage studies.
Sex chromosome aneuploidy in fragile X carriers
Authors: Nielsen Karen Brøndum , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractNot few reports of sex chromosome aneuploidy in association with the fragile site at Xq28 have appeared, suggesting other factors than pure coincidence. In the present report lymphocyte cultures from 23 obligate and 45 potential carriers have been examined cytogenetically. As expected, an increase in sex chromosome aneuploidy with increasing age was observed. However, it seemed that the increase of hyperdiploid cells was far in excess of the expected, and a difference between obligate and potentialcarriers was apparently also present. Hence, a disposition to non‐disjunction of the fragile X chromosome is suggested.
Evaluation of carrier detection rates for duchenne and becker muscular dystrophies using serum creatine‐kinase(CK) and pyruvate‐kinase(PK) through discriminant analysis
Authors: Zatz Mayana , Otto Paulo A. , Reynolds James F. 
Published: June 2005

AbstractSerum pyruvate‐kinase (PK) and creatine‐kinase (CK) determinations have been carried out in a sample of 100 obligate carriers for the Duchenne muscular dystrophy (DMD) gene, 23 obligate carriers for the Becker muscular dystrophy (BMD) gene, and 50 normal adult control women. Blood samples were collected from all subjects three times on three independent occasions and the means of these three determinations were considered for both PK and CK activities in the statistical analysis.Discriminant analysis has shown that, in the group of carriers for the DMD gene, the estimated misclassification frequencies (M.F.) using either serum CK, PK, or both enzymes were: 26.5% for CK alone, 19.5% for PK alone, and 19% for both enzymes.In the group of carriers for the BMD gene, the estimated proportions of M.F. were: 31.7% for CK alone, 23.8% for PK alone, and 20.4% for both enzymes.It is concluded that, although a proportion of carries still remains undetected, the use of serum PK determinations enhances the capability of detecting carriers of both DMD and BMD mainly when compared with serum CK alone.
Alopecia, macular degeneration, and growth retardation: A new syndrome?
Authors: Küster Wolfgang , Majewski Frank , Hammerstein Wolfgang , Fraser F. Clarke , Preus Marilyn 
Published: June 2005

AbstractA syndrome with growth retardation, repeated hair loss, and ring‐shaped degeneration of the retinal pigmentary epithelium is described. Similarities to a known syndrome could not be found.
Boy with a chromosome del (3)(q12q23) and Blepharophimosis syndrome
Authors: Fujita Hiroko , Meng Jianguo , Kawamura Miyako , Tozuka Noriko , Ishii Fumiyo , Tanaka Naoko 
Published: June 2005

AbstractWe report on a 6‐year‐old boy with de novo 46, XY, del(3)(q12q23) and bilateral blepharo‐phimosis, ptosis, epicanthus inversus, in addition to multiple other anomalies. Since 4 previously reported cases of interstitial deletion of 3q involving 3q23 band are clinically similar, we propose this blepharophimosis sequence due to 3q23 deletion as a further “contiguous gene syndrome”.
New diagnostic method for Pallister‐Killian syndrome: Detection of i(12p) in interphase nuclei of buccal mucosa by fluorscence in situ hybridization
Authors: Ohashi Hirofumi , Ishikiriyama Satoshi , Fukushima Yoshimitsu 
Published: June 2005

AbstractDetection of the supernumerary isochromosome 12p [i(12p)] was performed on buccal smear preparations from 2 patients with Pallister‐Killian syndrome, 21 (patient 1) and 15 months (patient 2) old, by interphase fluorescence in situ hybridization (FISH) using a chromosome 12‐specific alpha satellite probe. Isochromosome 12p‐positive cells were identified by observing 3 signals over the nucleus, while diploid cells had 2 signals. The proportion of i(12p)‐positive cells thus identified was high in the epithlial cells of buccal mucosa at 68 and 53% from patients 1 and 2, respectively. Further, the frequencies of i(12p)‐positive cells were also studied in PHA‐stimulated peripheral lymphocytes, cultured skin fibroblasts (both patients), and directly harvested T and B‐cells (patient 1). Of these tissues, buccal mucosa showed the highest proportion of i(12p)‐positive cells. These findings indicate that epithelial cells of buccal mucosa are likely to retain i(12p)‐positive cells. Detection of i(12p) using direct buccal smear preparations by interphase FISH is a rapid, effective and non‐invasive method for confirming the diagnosis of the Pallister‐Killian syndrome. © 1993 Wiley‐Liss, Inc.
Inverted insertion of chromosome 7q and ectrodactyly
Authors: Naritomi Kenji , Izumikawa Yoshinori , Tohma Takaya , Hirayama Kiyotake 
Published: June 2005

AbstractAn inverted insertion of a segment 7q22–q34 into 3q21 was found in a mentally normal male infant with ectrodactyly of a hand and the feet. A putative gene for ectrodactyly seems to be assigned at 7q22. © 1993 Wiley‐Liss, Inc.