bluuebunny/crossref_metadata_2025_split huggingface dataset:
Congenital gastric teratoma in Wiedemann‐Beckwith syndrome
Authors: Falik‐Borenstein Tzipora C. , Korenberg Julie R. , Davos Irene , Platt Lawrence D. , Gans Stephen , Goodman Barbara , Schreck Rhona , Graham John M. 
Published: June 2005

AbstractWiedemann‐Beckwith syndrome (WBS) may be associated with abdominal tumors, including Wilms tumor, adrenocortical carcinoma, hepatoblastoma, gonadoblastoma, rhabdomyosarcoma, and neuroblastoma. We report on a newborn infant with WBS and a congenital teratoma of the stomach. This is the sole report of any teratoma being associated with WBS and also the first report of a tumor present at birth and visible prenatally in WBS. At birth this infant boy had the diagnostic findings of WBS with macroglossia, ear lobule creases and pits, nevus flammeus, and omphalocele, and an abdominal mass. Abnormalities were detected prenatally when ultrasound examination showed placental overgrowth, polyhydramnios, omphalocele, and posterior abdominal calcifications. Resection of the mass and partial gastrectomy were performed at age 10 days; histologic study showed an immature grade‐II teratoma containing a mixture of mature and immature tissues from all germ layers. Results of cytogenetic studies of blood and teratoma were normal (46,XY). This congenital gastric teratoma in a newborn boy with classical WBS may represent either a tumor or an included twin. We discuss its implications for the association of WBS with neoplasia and monozygotic (MZ) twinning, review various neoplasias associated with WBS, and consider pathogenetic mechanisms.
Possible common pathogenetic mechanisms for Poland sequence and Adams‐Oliver syndrome
Authors: Der Kaloustian Vazken M. , Hoyme H. Eugene , Hogg Heidi , Entin Martin A. , Guttmacher Alan E. 
Published: June 2005

AbstractWe report on 2 families having members affected with the Poland sequence and Adams‐Oliver syndrome. In the first family, a 5‐month‐old boy presented with Adams‐Oliver syndrome; his mother had Poland sequence. In the second family, a 12‐year‐old boy and his mother presented with findings suggestive of Adams‐Oliver syndrome and Poland sequence. This suggests that the same genetic predisposition may result in either or both conditions.
Polyasplenia, caudal deficiency, and agenesis of the corpus callosum
Authors: Rodríguez José Ignacio , Palacios José , Omeñaca Félix , Lorente Marién 
Published: June 2005

AbstractFullana et al. [Am J Med Genet (suppl. 2): 23–29, 1986] reported on 2 sibs with an autosomal recessive syndrome of caudal deficiency and polyasplenia anomalies. We report on a similar patient in which agenesis of the corpus callosum (ACC) was also found. Such an association has not been reported previously. This finding of ACC is to be interpreted as another midline anomaly rather than as a causally independent malformation.
The Rapp–Hodgkin syndrome
Authors: Breslau‐Siderius E. J. , Lavrijsen A. P. M. , Otten F. W. A. , van der Schroeff J. G. , Swart J. G. N. 
Published: June 2005

AbstractWe report on a family with the Rapp‐Hodgkin ectodermal dysplasia syndrome. Four affected family members are described and a review of the literature is given.
Computerized approach to X‐linked mental retardation syndromes
Authors: Arena J. Fernando , Lubs Herbert A. 
Published: June 2005

AbstractPhotographs of normal and abnormal relatives with X‐linked mental retardation (XLMR) and clinical data are combined in a Macintosh II computer system to provide an objective and versatile means of evaluating developmental abnormalities. The system includes a flatbed scanner for the entry of photographs and text, additional memory to enhance resolution of photographs, and several programs which facilitate searches for keywords. The primary advantages of the system include an easy interaction between descriptive words and photographs, and rapid comparison of whole faces and specific traits from many individuals. Information within families and between disorders can easily be compared in coded or uncoded fashion. Data from the 34 currently described syndromes emerging from the category of “non‐specific XLMR” are being used to develop and test this approach. Neither standard photographs nor most computerized diagnostic systems permit this flexibility. Ultimately, this approach will provide a valuable diagnostic and teaching aid.
Gene for non‐specific X‐linked mental retardation maps in the pericentromeric region
Authors: Samanns Christine , Albrecht Regine , Neugebauer Meinhard , Neri Giovanni , Gal Andreas 
Published: June 2005

AbstractLinkage analysis was carried out in a large four‐generation German family segregating for non‐specific X‐linked mental retardation. Affected males have moderate intellectual handicap. Speech delay, deviant behaviour, and hyperactivity have also been reported. Head circumference and testicular volumes are normal. Cytogenetic analysis failed to show evidence for fragile site or structural abnormality of the X chromosome. None of the obligatory carriers shows any clinical symptoms. Close linkage without recombination (lod scores 1.74 to 2.05) has been found between the disease locus (MRX1) and the polymorphic DNA loci DXS7 (Xp11.4‐p11.3), MAOA(Xp11.3–p11.23), DXS255(Xp11.22), and DXS159 (Xq12) suggesting that the gene responsible for the disease in this family maps in the pericentromeric region of the X chromosome. Linkage data obtained with the flanking marker loci OTC (Xp21.1) and DXS95 (Xq21.2–q21.3) also were compatible with this localization of the MRX1 gene. Close linkage to loci from Xp22, Xq22, Xq24–25, or Xq28 could be excluded.
X‐linked mental retardation with marfanoid habitus: First report of four Italian patients
Authors: Lalatta F. , Livini E. , Selicorni A. , Briscioli V. , Vita A. , Lugo F. , Zollino M. , Gurrieri F. , Neri G. 
Published: June 2005

AbstractWe report on 4 new cases of mildly retarded patients with marfanoid habitus and a characteristic constellation of minor anomalies. These patients, although sporadic, are likely to be affected by the same X‐linked type of mental retardation described by Lujan et al. (American Journal of Medical Genetics 17:311–322,1984) and more recently by Fryns and Buttiens (American Journal of Medical Genetics 28:267–274, 1987).The similar psychiatric history in 2 of our patients suggests that psychotic behaviour could be an additional manifestation, previously unrecognized in this condition.Late diagnosis of this relatively new syndrome in all our patients confirms the difficulty of the nosologic definition of mentally retarded individuals on clinical grounds alone. On the other hand, the Lujan‐Fryns syndrome appears to be more common than one would have thought.
Simpson‐Golabi‐Behmel syndrome with severe cardiac arrhythmias
Authors: König Rainer , Fuchs Sigrun , Kern Christoph , Langenbeck Ulrich 
Published: June 2005

AbstractWe report on a family with 2 affected males with the X‐linked Simpson‐Golabi‐Behmel (SGB) syndrome. The propositus was a 33‐year‐old man with pre‐ and postnatal overgrowth, “coarse” face with hypertelorism, broad nose, wide mouth, malposition of teeth, submucous cleft, accessory nipples, broad hands with hypoplastic index finger nails, and operated left postaxial hexadactyly. From the age of 26 years he suffered from severe tachyarrhythmias, requiring recurrent defibrillations. The brother of the propositus was macrosomic at birth and had a similar facial appearance. In addition he had a pyloric stenosis and a 3/6 systolic murmur. He died at age 4 months. Cardiac defects and conduction disturbances are major components of the SBG syndrome and can be responsible for death in early infancy and perhaps for cardiac arrest in the adult.
Anthropometric comparison of mentally retarded males with and without the fragile X syndrome
Authors: Butler Merlin G. , Allen G. Andrew , Haynes Judy L. , Singh Dharmdeo N. , Watson Michael S. , Breg W. Roy 
Published: June 2005

AbstractAn anthropometric survey of 41 variables (weight, height, 10 linear, 4 breadth, 22 craniofacial, 2 skinfold, and testicular volume), including multivariate discriminant analysis, was undertaken on 110 mentally retarded males (39 with and 71 without the fra(X) syndrome). The mean Z scores of the fra(X) syndrome males fell between ‐ 2.00 and 8.38 for bizygomatic diameter and testicular volume, respectively, and the range of the mean Z scores of the non‐fra(X) males was from ‐ 2.64 to 2.26 for hand breadth and testicular volume, respectively. There was a statistically significant difference (P < .05) between fra(X) and non‐fra(X) males for 18 measurements (weight, height, 7 linear, 2 breadth, 5 craniofacial, 1 skinfold, and testicular volume), with the greater measurements (excluding bizygomatic diameter) found in fra(X) males. Sitting height, knee‐buttock length, middle finger length, and hand length were negatively correlated (P < .05) with age, whereas bizygomatic diameter, ear length, and ear width were positively correlated (P < .05) with age and head circumference, head length, and outer canthal distance were positively correlated (P < .05) with fra(X) chromosome expression in the fra(X) males. Triceps and subscapular skinfold thicknesses were negatively correlated (P < .05) with age, whereas ankle breadth, ear length, ear width, and nose length were positively correlated (P < .05) in the non‐fra(X) males. Discriminant analysis of 34 fra(X) and 71 non‐fra(X) males resulted in a discriminant function based on 6 of 17 anthropometric variables and age. In the discriminant analysis, patients with the fra(X) syndrome were distinguished from mentally retarded males without the fra(X) syndrome at an overall correct classification rate of 97.1% in our sample. The 6 anthropometric variables in the discriminant function were the Z scores representing testicular volume, ear width, head breadth, bizygomatic diameter, hand breadth, and hand length. Additional research is needed to test the usefulness of these variables in screening mentally retarded males for the fra(X) syndrome.
Molecular characterization of a DNA probe, U6.2, located close to the fragile X locus
Authors: Pergolizzi Robert , Brown W. Ted , Goonewardena Ponmani , Bhan Romal , Dobkin Carl , Dahl Niklas , Pettersson Ulf 
Published: June 2005

AbstractA new DNA probe, U6.2, defining locus DXS304, was recently shown to be closely linked to the fragile X locus (FRAXA). It is polymorphic with a number of different enzymes, all of which are in complete linkage disequilibrium, which suggests an insertion/deletion type of polymorphism. Using the method of Sanger, we have sequenced 1,102 bp of the cloned U6.2 fragment. Analysis of the sequence showed there was a long direct repeat of 121 bp and two long inverted repeats. The first was 19 bp long, and the second was a palindromic invert of 20 bp. Such repeats could promote recombination in this region and could have been involved in the suggested insertion/deletion event that created the polymorphism detected at locus DXS304. Long fragments were observed using pulsed field gel electrophoresis (PFGE), but no length variations were seen. The sequence of U6.2 will be useful in developing a polymerase chain reaction (PCR) based assay for the restriction fragment length polymorphism (RFLP) detected at locus DXS304 which should assist with carrier detection and prenatal diagnosis of the fragile X syndrome.
Improved prenatal detection of fra(X)(q27.3): Methods for prevention of false negatives in chorionic villus and amniotic fluid cell cultures
Authors: Jenkins Edmund C. , Krawczun Michael S. , Stark‐Houck Sandra L. , Duncan Charlotte J. , Kunaporn Suphat , Gu Hong , Schwartz‐Richstein Carol , Howard‐Peebles Patricia N. , Gross Anne , Sherman Stephanie L. , Brown W. Ted 
Published: June 2005

AbstractThe reliable detection of fra(X)(q27.3) in prenatal samples is important for providing genetic counseling. We have identified 5 new cases of prenatal fragile X [fra(X)] detection in 3 chorionic villus sample (CVS) and 2 amniotic fluid (AF) cell cultures. In 4 of the 5 cases, either excess thymidine (THY) or a combination of THY and 5‐fluorodeoxyuridine (FUdR) was clearly superior to FUdR alone as fra(X) inducers. Amniocytes from one case were cultured only in RPMI‐1640 and later exposed to FUdR or THY separately. They showed only 2% fra(X) while parallel cultures initiated in Chang medium and incubated in RPMI for at least 7 days (recovery) before fra(X) induction exhibited strikingly increased fra(X) frequencies. Chang medium alone will not allow fra(X) induction in AF (Jenkins EC, Brown WT [1986]: “Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment.” New York: Plenum Press, pp 185–204). Now, using CVS cells, we report that only 1% and 0% fra(X) were detected using FUdR or THY in cells cultured in RPMI for 4 days after removal from Chang medium. Cells with 7 days “recovery” in RPMI exhibited increases from 2 to 6%. Therefore, we have found that Chang medium is very helpful when the appropriate recovery time in another medium is allowed before fra(X) induction. Some false negative reports can be attributed to: induction in Chang medium alone; lack of sufficient recovery time after initiating cells in Chang before induction; and unavailability of the excess THY fra(X) induction system. In conclusion, 1) multiple induction systems, including a combination of FUdR/THY, and 2) initial culture of cells in Chang medium with more than a 4 day recovery period in RPMI or another appropriate medium, enhance optimal conditions for prenatal fra(X) detection. These modifications should reduce the possibility of false negatives thereby improving the reliability of prenatal fra(X) detection.
Effects of age and communication level on eye contact in fragile X males and non‐fragile X autistic males
Authors: Cohen Ira L. , Vietze Peter M. , Sudhalter Vicki , Jenkins Edmund C. , Brown W. Ted 
Published: June 2005

AbstractDyadic social gaze and eye contact were examined in fragile X [fra(X)] males and in non‐fra(X) autistic males as a function of age and level of communicative ability. Lag sequential analysis showed that responsive eye contact was highly correlated with age and communicative ability in non‐fra(X) autistic males but not in fra(X) males. Older, more communicative non‐fra(X) autistic males exhibited more responsive eye contact than their fra(X) cohorts. Implications of these observations for theory and intervention are discussed.
Cognitive profiles of the carrier fragile X woman
Authors: Brainard Sharon S. , Schreiner Rebecca A. , Hagerman Randi J. 
Published: June 2005

AbstractCognitive deficits in females with fragile X [fra(X)] syndrome have been reported, but studies have rarely focused on women with normal intelligence, nor have they separated fra(X)‐negative carriers from fra(X)‐positive carriers. Questions specifically addressed here are: (1) is the degree of fragility predictive of IQ? (2) are cognitive patterns consistent across fragility levels? and (3) do consistent individual profiles exist? These questions were addressed with the help of 74 heterozygous women, 38 of whom were fra(X)‐negative carriers. All women completed the WAISR, and full‐scale IQ was normally distributed (mean = 99.65). A strong inverse relationship between IQ and fragility levels was found. Also, the group of fra(X)‐positive women had a significantly different subtest pattern from that of the fra(X)‐negative women. However, when results were analyzed individually, no consistent patterns emerged. The cognitive performance of fra(X)‐negative carriers has probably been underestimated due to the lack of differentiation between positive and negative carrier females in previous studies. These women appear to be cognitively unimpaired and should be considered separately from fra(X)‐positive women. Since consistent WAIS‐R patterns are not observable on an individual basis, their use as a diagnostic/predictive tool appears to be inappropriate.
Two different phenotypes of fetuses with chromosomal triploidy: Correlation with parental origin of the extra haploid set
Authors: McFadden D. E. , Kalousek D. K. 
Published: June 2005

AbstractTriploidy is a condition in which there is over‐representation of one parental genome. Recent work in experimental mouse embryogenesis suggests that the parental origin of the extra genome in triploidy may have specific effects on both embryonic/fetal phenotype and placental development due to an “imprinting” effect. We studied 19 human triploid fetuses and discerned 2 distinct fetal phenotypes, as well as the previously described placental phenotypes, which correlate with the parental origin of the extra haploid set. Although these findings suggest that in human triploids the parental origin of the extra haploid set is important in determination of both fetal and placental phenotype it is not clear to what degree nlacental development and function affect the resultant fetal phenotype.
Digeorge anomaly in an infant with deletion of chromosome 22 and dup(9p) due to adjacent type II disjunction
Authors: El‐Fouly Mohamed H. , Higgins James V. , Kapur Saroj , Sankey Beverly J. , Matisoff David N. , Costa‐Fox Maria 
Published: June 2005

AbstractA term white girl presented with low birth weight, minor anomalies, and congenital heart defects. The infant had microcephaly, upslanting palpebral fissures, prominent nasal bridge, short philtrum, thin upper lip vermilion, down‐turned corners of the mouth, receding mandible, and short broad neck. The hands showed proximal placement of the thumbs, bilateral clinodactyly of the index finger, and bilateral transverse crease. Both hands were clenched, with the index finger overlapping the third finger and the fifth finger overlapping the fourth. There was also talipes calcaneo‐valgus, bilateral dorsifiexion of the metatarsophalangeal joints, flexion of the metatarsophalangeal joints, and hypoplasia of all nails. The patient's karyotype was 46,XX,−22,+der(9)t(9;22)(q21.13;q12.1)mat; the mother had the balanced translocation 46,XX,t(9;22)(9pter → 9q21.13::22q12.1 → 22qter;22pter → 22q12.1::9q21.13 → 9qter). The infant died at age 10 days, and the autopsy showed absent thyroid isthmus and rudimentary thymus, with one small ectopic parathyroid attached to it. The lungs were hypoplastic, with abnormal lobation. The cardiac anomalies included truncus arteriosus, truncal valve stenosis, single carotid trunk, subclavian arteries arising from the distal part of the aortic arch, atrial and ventricular septal defects, right ventricular hypertrophy, and a hypoplastic left pulmonary artery. Also, multiple small accessory spleens were present in addition to a normal‐sized spleen. This case combines features associated with Di‐George anomaly and dup(9p). The chromo‐some abnormality in this patient appears to have arisen in a maternal germ cell due to adjacent type II disjunction.
Variability of expression of the orofaciodigital syndrome type I in black females: Six cases
Authors: Salinas Carlos F. , Pai G. Shashidhar , Vera Christian L. , Milutinovic Jovan , Hagerty Richard , Cooper Joel D. , Cagna David R. 
Published: June 2005

AbstractOrofaciodigital syndrome type I (OFD I) includes striking orodental, facial, digital, renal, and central nervous system (CNS) abnormalities. Frequently associated with mental retardation, OFD I is inherited as an X‐linked dominant trait, lethal in males. Here, we report the variable expressivity of OFD I in 6 black U.S. females and review findings in 2 previously reported black patients. Only these 8 of over 160 reported cases involve blacks. Abnormalities observed in black patients are similar to those observed in whites, but with specific differences. Only 25% of the blacks had cleft palate and none was observed with midline cleft of the upper lip. Among whites, 80% have cleft palate and 45% midline cleft of the upper lip. These findings suggest that racial genetic factors may protect lip and palate development in blacks, even in the presence of the OFD I gene. CNS abnormalities, including agenesis of the corpus callosum, hydrocephaly, cystic brain lesions, seizures, and mental retardation, were present in 50% of our the cases. This figure is greater than previously reported. Polycystic kidneys were present in 3 of our patients. Including a previously reported patient, 50% of the black OFD I patients show polycystic kidneys. Hyperplastic and supernumerary frenula, with or without bra‐chydactyly, have been shown to be strong diagnostic criteria in our patients. New findings reported here include intracranial berry aneurysm, periodontal disease, and lip pits. Clinicians treating these patients should be aware of the pleiotropic manifestations of the syndrome, which may include renal and CNS anomalies. Ultrasonic and computed tomography scan studies are indicated in patients diagnosed with OFD I.
Screening of male patients with autosomal recessive Duchenne dystrophy through dystrophin and DNA studies
Authors: Vainzof Mariz , Pavanello Rita C. M. , Pavanello‐Filho Ivo , Rapaport Debora , Passos‐Bueno Maria Rita , Zubrzycka‐Gaarn Elizabeth E. , Bulman Dennis E. , Zatz Mayana 
Published: June 2005

AbstractPreviously we estimated that about 2.5–4% of isolated male patients diagnosed as Duchenne dystrophy (DMD) may have the autosomal recessive form (AR‐DMD). Such cases can be distinguished from X‐linked DMD through the analysis of dystrophin. Fifty DMD patients from 47 families were investigated for dystrophin and DNA deletions. Based on our results, we estimate that the frequency of AR‐DMD may be about 8–12% among male patients diagnosed as DMD in whom X‐linked inheritance could not be confirmed through pedigree data, serum enzymes in female relatives or DNA studies. Such an estimate must be confirmed in a larger sample; however, it shows the importance of assessing dystrophin in all patients diagnosed as DMD in whom X‐linked inheritance cannot be proved, since the distinction between these 2 forms has implications for genetic counseling.
CHARGE association: Clinical manifestations and developmental outcome
Authors: Harvey A. Simon , Leaper Patricia M. , Bankier Agnes 
Published: June 2005

AbstractMental retardation and growth failure are considered integral manifestations in the CHARGE association, reported to be present in as many as 90% of cases. Recent studies have reported a better than expected outcome in some patients; however, the conclusions of these studies have been confounded to some extent by their inclusion criteria. We report follow‐up of 17 patients with CHARGE association in whom the diagnosis was based on clinical findings present in early infancy, before developmental patterns were established. Of the 7 survivors, all had motor delay, and 6 had feeding difficulties during infancy. Psychometric assessment at follow‐up (age range 2 years, 10 months, to 15 years) showed that 2 were functioning in the normal range, 3 had specific language delay, one had moderate mental retardation, and one had severe mental retardation. Feeding problems persisted in only the 2 youngest patients. After initial failure to thrive, normal height was reached in 4 of 5 children older than age 3 years. The effects of visual and hearing deficits, their management, and the effects of physical illness are discussed with respect to developmental outcome. Our results suggest that some infants with CHARGE association who survive early infancy have a better prognosis for feeding difficulties, growth, and mental development than may be expected from early performance and better than that generally predicted from the current literature. The prompt management of sensory deficits is emphasized.
Macrostomia, ectropion, atrophic skin, hypertrichosis: Another observation
Authors: David Albert , Gordeeff André , Badoual Jean , Delaire Jean 
Published: June 2005

AbstractWe report on a boy with bilateral ectropion, ocular hypertelorism, bulbous nose, macrostomia with thin lips, abnormal ears, hypertrichosis of the forehead, neck and back, atrophic skin with hypoplastic nipples. Cause and inheritance are unknown.