bluuebunny/crossref_metadata_2025_split huggingface dataset:
Fragilitas ossium (fro/fro) in the mouse: A model for a recessively inherited type of osteogenesis imperfecta
Authors: Sillence D. O. , Ritchie H. E. , Dibbayawan T. , Eteson D. , Brown K. 
Published: June 2005

AbstractThe fragilitas ossium (fro/fro) in the mutation in the mouse has been demonstrated to have clinical, radiographic and morphologic manifestations similar to those which arise in autosomal recessive forms of osteogenesis imperfecta (OI) occurring in humans. Approximately 90% of mutant offspring in the mouse were perinatally lethal with clinical and roentgenographic findings similar to those of OI type II subgroup A in humans. The 10% of mutant mice surviving follow a course very similar to severe progressively deforming OI type III. In surviving mice, there is progressive fore‐limb and hind‐limb bowing in the absence of a high fracture frequency.
Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
Authors: Cohen M. Michael 
Published: June 2005

AbstractSeven Pfeiffer syndrome pedigrees (three 3 generation and four 2 generation) have been recorded to date in addition to at least a dozen sporadic cases. Autosomal dominant inheritance with complete penetrance is characteristic of the 7 familial instances. Variable expressivity has involved mostly the presence or absence of syndactyly and the degree of syndactyly when present.Classic Pfeiffer syndrome is designated type I. Type 2 consists of cloverleaf skull with Pfeiffer hands and feet together with ankylosis of the elbows. Such patients do poorly with an early death. All reported instances to date have been sporadic. Type 3 is similar to type 2 but without cloverleaf skull. Ocular proptosis is severe in degree and the anterior cranial base is markedly short. These patients also do poorly and tend to have an early death. To date all cases have occurred sporadically.Although these 3 clinical subtypes do not have status as separate entities, their diagnostic and prognostic implications are important. Type 1 is commonly associated with normal intelligence, generally good outcome, and can be found dominantly inherited in some families. Types 2 and 3 generally have severe neurological compromise, poor prognosis, early death, and sporadic occurrence. Recognition of type 3 is particularly important because extreme ocular proptosis in the absence of cloverleaf skull but with various visceral anomalies can result in failure to diagnose Pfeiffer syndrome and labeling the patient as an “unknown” or as a “newly recognized entity.” The major diagnostic clues in type 3, as well as in the other clinical subtypes, remain classic Pfeiffer hands and feet in association with craniosynostosis, regardless of craniofacial variability or the presence or absence of visceral anomalies.A ratio of hallucal width to second toe width is developed to provide guidelines for what constitutes a broad great toe in Pfeiffer syndrome. Cases that do not qualify as examples of Pfeiffer syndrome are then reviewed. © 1993 Wiley‐Liss, Inc.
Velo‐cardio‐facial syndrome: A review of 120 patients
Authors: Goldberg Rosalie , Motzkin Beth , Marion Robert , Scambler Peter J. , Shprintzen Robert J. 
Published: June 2005

AbstractA series of earlier reports has described the velo‐cardio‐facial syndrome (VCFS), a syndrome of multiple anomalies including cleft palate, heart malformations, facial characteristics, and learning disabilities. The patients reported previously were primarily ascertained from a craniofacial program at a large tertiary medical center. Recent reports, including a companion paper in this issue, suggest that this common syndrome of clefting is also a common syndrome of congenital heart defect (CHD) which is expressed as familial examples of DiGeorge sequence. Appreciation of more severely affected cases of VCFS and the detection of mild expressions have led to a broadening of the phenotypic spectrum of the syndrome. The purpose of this report is to describe the full spectrum of VCFS, including several new manifestations and to compare the VCFS phenotype with published cases of “familial DiGeorge sequence” which are now thought to represent examples of VCFS. © 1993 Wiley‐Liss, Inc.
Trimethylaminuria in a girl with Prader‐Willi syndrome and del(15)(q11q13)
Authors: Chen Harold , Aiello Frank 
Published: June 2005

AbstractWe report on an individual with trimethyl‐aminuria, Prader‐Willi syndrome, and del(15) (q11q13). To our knowledge, such an association has never been reported. Skin sores secondary to choline‐rich foods and amenable to dietary control have not been described in trimethylaminuria, although they are seen in some patients with Prader‐Willi syndrome. Pathogenesis, clinical diagnosis, and management of reported cases with trimethylaminuria are reviewed.Serious social and behavioral problems may result from strong body odor. Amelioration of the “fish odor” by dietary choline restriction makes trimethylaminuria detection important. Association of trimethylaminuria with Prader‐Willi syndrome and del(15) (q11q13) in this patient is of particular interest. It may represent a contiguous gene syndrome, or deletion of the normal allele leading to expression of a single recessive trimethylaminuria gene, or an unrelated association, such as in Noonan syndrome. However, recent development of mapping of flavin‐containing monooxygenase 2 (FMO2), the likely enzyme that is defective in fish odor syndrome, to chromosome 1q probably excludes pathogenetic association of fish odor syndrome with the Prader‐Willi syndrome. © 1993 Wiley‐Liss, Inc.
Microcephaly and digital anomalies: A newly recognized syndrome of recessively inherited mental retardation
Authors: Kelly Thaddeus E. , Kirson Lisa , Wyatt Jo 
Published: June 2005

AbstractWe describe 2 brothers with congenital microcephaly and moderately severe mental retardation. The presence of identical and symmetrical digital anomalies suggests that this constellation represents a clinically recognizable recessively inherited mental retardation syndrome. Recognition of the clinical diagnosis should provide accurate genetic counseling to parents of a single affected child. © 1993 Wiley‐Liss, Inc.
Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome)
Authors: Abu‐Libdeh Bassam , Fujimoto Atsuko , Ehinger Marcia 
Published: June 2005

AbstractIn 1975 Say et al. (Humangenetik 26:267–269) reported on a new dominantly inherited syndrome of cleft palate, short stature, microcephaly, large ears, and hand anomalies in 4 members of a family. This is a report of a 13‐month‐old girl with cleft palate, short stature, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, proximal renal tubular acidosis with cystic dysplasia of the kidneys, and developmental delay. This case appears to be the second report of this syndrome which presumably occurred as a new mutation in this family. © 1993 Wiley‐Liss, Inc.
Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: Report of two cases
Authors: Pettenati M. J. , Teot L. A. , Smith C. , Hayworth R. , Thomas I. T. , Veille J. C. , Rao P. N. 
Published: June 2005

AbstractWe report on 2 cases with different de novo unbalanced mosaic karyotypes in which each cell line had a different structural abnormality involving a common chromosome region: 46,XX,del(11)(q23.3)/46,XX,−11,+der(11)t(11;?)(q23.3;?) and 46,X,idic(Xq)/46,X,idic(Xq),−12,+der(12)t(X;12)(p11.2;p13.3). Molecular‐cytogenetic analysis confirmed the origin of the derivative 12 chromosome in the latter. We present a literature review of reports with mosaic cell lines of structural chromosome abnormalities that share the same chromosome breakpoint. © 1993 Wiley‐Liss, Inc.
Angular homeostasis IX. Polygonal orbits with a moving target: Implications for anomalous numbers of digits in congenital heart disease
Authors: Murphy Edmond A. 
Published: June 2005

AbstractThis paper explores properties of discrete processes in which a pursuer seeks a target that is moving at constant velocity r that is a fixed proportion of the speed of the pursuer. The pursuer is subjected to proportional angular homeostasis, so chosen that the number of steps per circuit is small. The orbits relative to the target may assume any of four forms: polygons that reverse their sense an infinite number of times; or polygons that after a finite number of reversals ultimately come to have an integer numbers of sides; or have a rational numbers of sides; or have an irrational number of sides that densely fill an annulus. None of the polygons is regular. In the parameter space, the boundary line between the first of these sets and the other three has a somewhat bizarre pattern and may possibly be fractal, but no proof is forthcoming. Unlike the pattern with a stationary target, there may be a set or catchment of diverse values of the speed ratio, r, and the correction coefficient, b that all result in figures of some specified number, n, of sides (although with vertices in differing locations). Catchments have been found for only those polygons that have the winding number of 1. The implications are discussed that this property has for the genetic coding of biological traits that are countable. Some attention is also paid to the relevance of polygons with few sides to ontogenic growth when the correction coefficient is cyclically arc‐ or time‐dependent. © 1993 Wiley‐Liss, Inc.
Presymptomatic diagnosis of SMA III by genotype analysis
Authors: Brahe Christina , Zappata Stefania , Velonà Isabella , Bertini Enrico , Servidei Serenella , Tonali Pietro , Neri Giovanni 
Published: June 2005

AbstractLinkage analysis and prenatal prediction in families segregating autosomal recessive spinal muscular atrophy (SMA) has become feasible since the assignment of the locus responsible for type I‐III SMA to region 5q12‐q13.3. We have performed a segregation study of SMA in Italian families using molecular probes and highly informative PCR‐based polymorphic markers. In one family, a 7‐year‐old boy affected with type III SMA and an 8‐year‐old apparently healthy brother had identical haplotypes. These findings prompted us to reexamine the apparently unaffected child. His neurological exam was normal. However, the electromyography (EMG) showed a pattern consistent with chronic SMA. To our knowledge this is the first example of presymptomatic diagnosis of SMA based on genotype analysis. © 1993 Wiley‐Liss, Inc.
Aase syndrome: Novel radiographic features
Authors: Hing A. V. , Dowton S. B. 
Published: June 2005

AbstractWe report on a female with hypoplastic anemia and abnormally digitalized thumbs who presented with growth failure and novel osseous radiologic abnormalities. In addition to thumb anomalies, abnormalities of the clavicles, ilia, distal sacrum, and coccyx and described. © 1993 Wiley‐Liss, Inc.
Brachymesomelia and Peters anomaly: A new syndrome
Authors: Kivlin Jane D. , Carey John C. , Richey Mark A. 
Published: June 2005

AbstractWe report on a child with an unusual mesomelic bone dysplasia and Peters anomaly. While there is some resemblance to the radiographic findings and corneal clouding described by Pillay in the OMMD (ophthalmomandibulo‐melic dysplasia) syndrome, there are also differences. The several syndromes that combine brachymesomelia and corneal clouding are discussed. © 1993 Wiley‐Liss, Inc.
Photoanthropometric study of facial growth in Noonan syndrome
Authors: Sharland Michael , Morgan Maureen , Patton Michael A. 
Published: June 2005

AbstractWe present a photoanthropometric analysis of 104 individuals with Noonan syndrome. The study contained 53 males and 51 females with an age range of one to 60 years (mean 13.8 years). The results provide an objective evaluation of facial abnormality in Noonan syndrome. Individuals with Noonan syndrome are demonstrated to have an increased mid face height, hypertelorism, retrognathia, a lower nasal bridge and nasal root, a wider mouth, a more prominent upper lip, and apparently lower set ears than normal control individuals. Within the patient group an apparent alteration of facial structure was noted with increasing age, suggesting that remodelling of the characteristic face in Noonan syndrome may occur into adult life. © 1993 Wiley‐Liss, Inc.
Duplication of 9q12‐q33: A case report and implications for the dup(9q) syndrome
Authors: Stalker Heather J. , Aymé Ségolène , Delneste Daniele , Scarpelli Hélène , Vekemans Michel , Der Kaloustian Vazken M. 
Published: June 2005

AbstractWe report on a boy with a direct tandem duplication of 9(q12‐q33) and dolichocephaly, beaked nose with prominent philtrum, deepset eyes, receding small chin, failure to thrive, developmental delay, simian creases, long fingers, stiff joints, and hypoplastic scrotum. This patient is compared to the 5 other reported cases with pure partial dup(9q), and the “trisomy 9q syndrome” described by Turleau et al. [1975]. © 1993 Wiley‐Liss, Inc.
Familial cases of gastroschisis in a population‐based registry
Authors: Torfs Claudine P. , Curry Cynthia J. R. 
Published: June 2005

AbstractOnly a few familial cases of gastroschisis have been reported. Consequently, the risk of a recurrence has been thought to be very small. In a population‐based study of gastroschisis that included an extended pedigree of all probands, 6 (4.7%) out of 127 families had more than one affected relative. The relationships of the affected were: sib, half‐sib (2), first cousin, second cousin once removed, and great uncle. Sib recurrence was 3.5%. Our results suggest that pregnancies occurring in a family with a history of gastroschisis may be at higher risk of recurrence than previously thought. © 1993 Wiley‐Liss, Inc.
Are the Wolffian anomalies in males the phenotype corresponding to the Müllerian anomalies in females?
Authors: Zlotogora JoëL 
Published: June 2005

AbstractThe Wolffian and Müllerian ducts are embryologically closely related. This survey was aimed to determine whether, as has been suggested, Wolffian duct anomalies in males are the phenotype corresponding to Müllerian anomalies in females. This was done by analysis of the phenotype of the males in associations and syndromes in which Müllerian duct anomalies are frequent, and of the phenotype of the females in families in which anomalies of the Wolffian ducts are found. It appears that the only relation between the 2 types of defects seems to be a developmental one. In cases of early insult, anomalies are seen in males and females (e.g., in the association of renal agenesis with Müllerian or Wolffian defects). On the other hand, in all the other associations or syndromes, no relation was observed. This suggests that Wolffian anomalies in males are not the phenotype corresponding to Müllerian anomalies in females. © 1993 Wiley‐Liss, Inc.
Association between alleles of the transforming growth factor‐alpha locus and the occurrence of cleft lip
Authors: Sassani Russell , Bartlett Scott P. , Feng Hongshu , Goldner‐Sauve Audrey , Haq Asifa K. , Buetow Kenneth H. , Gasser David L. 
Published: June 2005

AbstractDNA samples from 100 patients with cleft lip with or without cleft palate (CL/P) were compared with those of 98 unaffected control individuals with respect to transforming growth factor alpha (TGFA) genotypes. Among the Caucasians in this population (83 CL/P, 84 controls), there was a significant difference in the restriction fragment length polymorphisms (RFLPs) observed after digestion with TaqI (x2 = 4.68, P = 0.03). The frequency of the C2 allele in the Caucasian CL/P population was 0.169, whereas that in the control group was 0.089. When the data for Caucasians, African‐Americans, and Asians were examined jointly, the x2 value for the pooled sample was 5.08 (P = 0.02). This confirms the hypothesis of Ardinger et al. [1989, Am J Hum Genet, 45:348–353] that TFGA itself or a closely linked gene contributes to the development of CL/P in humans. © 1993 Wiley‐Liss, Inc.
Common fragile site expression in lymphocytes from an individual mosaic for trisomy 8
Authors: Austin M. J. Finley , Neale Michael C. , Corey Linda A. , Nance Walter E. , Schieken Richard M. , Brown Judith A. 
Published: June 2005

AbstractDuring the course of a survey of fragile site expression in lymphocytes from twins one member of a dizygotic pair was found to be mosaic for trisomy 8. One hundred fifty metaphases from this individual were analyzed (100 treated with aphidicolin and 50 untreated); 43% were 46,XY and 57% 46,XY, +8. No differences were observed between the treated and control cultures in either the proportions of normal and trisomic metaphases or the overall or specific fragile site expression in the normal and trisomic cells. © 1993 Wiley‐Liss, Inc.
Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family
Authors: Pettenati Mark J. , Rao P. Nagesh , Weaver R. Grey , Thomas I. Tal , McMahan Mary Ruth 
Published: June 2005

AbstractWe report on a 4‐generation family in which Norrie disease occurs together with a pericentric inversion of the X chromosome in all affected males and carrier females. The breakpoint in the short arm of the X chromosome appears to be at the purported location of the Norrie disease gene. This is the second report of an association between Norrie disease and a chromosome aberration involving Xp11, and the first report of a specific gene disruption, thus physical gene location, due to a pericentric chromosome inversion. © 1993 Wiley‐Liss, Inc.
Premature aging and immunodeficiency: Mulvihill‐Smith syndrome?
Authors: Ohashi Hirofumi , Tsukahara Masato , Murano Ichiro , Fujita Kyoko , Matsuura Shinya , Fukushima Yoshimitsu , Kajii Tadashi 
Published: June 2005

AbstractWe report on a 30‐year‐old woman with premature aging, immunodeficiency, and other abnormalities. She had many manifestations of the Mulvihill‐Smith syndrome, a disorder that has been described in 4 sporadic individuals, ranging in age from 4 to 17 years. The common manifestations include short stature, microcephaly, a senile face with an under‐developed lower half, diminished facial subcutaneous fat, multiple pigmented nevi, sensorineural hearing loss, and a low IgG level. Our patient also had severe mental retardation, brachydactyly, severe T cell dysfunction, and suffered from severe verruca vulgaris and a chronic, active Epstein‐Barr virus infection. The fact that her parents were first cousins suggests autosomal recessive inheritance of her disorder. Two alternative possibilities were considered: the disorder in the patient represents the Mulvihill‐Smith syndrome with immune deficiency as a sign of its advanced stage, or a hitherto undescribed syndrome. © 1993 Wiley‐Liss, Inc.
Duplication 9q34→qter identified by chromosome painting
Authors: Spinner Nancy B. , Lucas Joe N. , Poggensee Marilyn , Jacquette Mary , Schneider Adele 
Published: June 2005

AbstractWe have studied an infant with multiple anomalies and a 46,XY,12p+ karyotype. Parental chromosomes were normal, and it was not possible to determine the identity of the extra material on chromosome 12 cytogenetically. Chromosome painting with probes from a chromosome 9 library identified this material as coming from chromosome 9, and cytogenetics established the duplication as 9q34→qter. Comparison of this patient with others reported with partial dup(9q) documented excellent concordance of minor anomalies, most notably dolichocephaly, “;deep‐set”; eyes, short horizontal palpebral fissures, beaked nose, micrognathia, arachnodactyly, and developmental delay. Identification of cytogenetically indeterminate abnormalities by molecular cytogenetics is very important, as it permits prognosis to be offered for families of newborn infants with unbalanced karyo‐types. © 1993 Wiley‐Liss, Inc.
Identical twins with Weissenbacher‐Zweymüller syndrome and neural tube defect
Authors: Ramer J. C. , Eggli K. , Rogan P. K. , Ladda R. L. 
Published: June 2005

AbstractNeurologic abnormalities have been described only once previously in a child with Weissenbacher‐Zweymüller syndrome (WZS), a rare skeletal dysplasia, evident neonatally. We report on identical twin male infants with skeletal findings typical of WZS, including small size at birth, proximal limb shortness, mid face hypoplasia, and myopia. In addition, twin B had a parieto occipital encephalocele while twin A had a meningocele at the same location. Twin B has had significant delays in development and hearing loss. © 1993 Wiley‐Liss, Inc.
Interstitial deletion of 8q13.3→ 22.1 associated with craniosynostosis
Authors: Fryburg Julie S. , Golden Wendy L. 
Published: June 2005

AbstractWe report on a 3‐year‐old girl who has an interstitial deletion of chromosome 8q [46,XX, del(8)(q13.3q22.1)]. She has severe mental retardation and minor anomalies in addition to lambdoidal synostosis. This is the first report of craniosynostosis in association with this chromosomal deletion. The manifestations of our patient are compared to those of previously reported patients with similar deletions. © 1993 Wiley‐Liss, Inc.
Extrahepatic biliary atresia and associated anomalies: Etiologic heterogeneity suggested by distinctive patterns of associations
Authors: Carmi Rivka , Magee Carol A. , Neill Catherine A. , Karrer Frederick M. 
Published: June 2005

AbstractFifty‐one cases of extrahepatic biliary atresia (EHBA) with associated anomalies were found in a study of EHBA (251 cases). Analysis of segregation patterns of these anomalies in individual patients suggested the existence of 2 major groups: (1) 15 cases (29.4%) with various combinations of anomalies within the laterality sequence, and (2) 30 cases (58.8%) with one or 2 anomalies mostly involving the cardiac, gastrointestinal, and urinary systems. These latter anomalies did not follow any recognizable pattern. The third group of 6 cases all had intestinal malrotation, some with preduodenal portal vein; these cases show some similarity to the laterality sequence group and may represent a more confined phenotypic result of faulty situs determination.This previously unattempted classification of patients with EHBA and associated anomalies might enable a more targeted approach towards identification of causes in this hetero‐geneous disorder. EHBA within the laterality sequence might prove a suitable candidate for a major gene mutation. Teratogenic, infectious and polygenic multifactorial causes might play a more significant role in EHBA associated with “nonsyndromic” organ system anomalies. © 1993 Wiley‐Liss, Inc.
18q‐mosaicism associated with Rett syndrome phenotype
Authors: Gordon Kevin , Siu Victoria Mok , Sergovich Fred , Jung Jack 
Published: June 2005

AbstractRett syndrome consists of a characteristic progressive encephalopthy in females. The cause of this syndrome is unknown. We present a patient with 18q‐mosaicism who, along with the characteristics of this autosomal deletion, also fulfills the clinical criteria for Rett syndrome. This may demonstrate heterogeneity within this as yet cinically defined syndrome. A thorough chromosomal analysis should be performed in suspected cases of Rett syndrome. © 1993 Wiley‐Liss, Inc.