bluuebunny/crossref_metadata_2025_split huggingface dataset:
Effect of mazindol on growth hormone levels in patients with Duchenne muscular dystrophy
Authors: Zatz Mayana , Rapaport Debora , Vainzof Mariz , de Cassia M. Pavanello Rita , Rocha Jane M. L. , Betti Roberto T. B. , Otto Paulo A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractHuman growth hormone (HGH) inhibition may be beneficial in Duchenne muscular dystrophy (DMD) and slow down the rate of progression of the disease. The purposes of the present investigation were: 1) to assess, through pharmacological stimuli (L‐dopa test), the HGH response in untreated DMD patients, and 2) to evaluate the inhibitory effect of mazindol on HGH levels as a potential treatment for DMD. In 55 DMD patients, HGH levels were measured through the L‐dopa test, and 40 received mazindol. After 1 year, there was wide variability in the individual response to mazindol. An apparent diminution in the mean HGH level was observed in the whole group of patients; this was statistically significant after 3 and 6 months but not after 9 and 12 months of treatment. The results suggest that this drug is not effective for arresting growth or inhibiting HGH secretion for a prolonged period of time.
Pallister‐Killian mosaic syndrome with emphasis on the adult phenotype
Authors: Quarrell Oliver W. J. , Hamill Merryl A. , Hughes Helen E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a 36‐year‐old man with profound mental retardation, “coarse” face, and epilepsy. Recognition of the adult phenotype of the Pallister‐Killian mosaic syndrome was a prerequisite to directing the cytogenetic analysis.
Newly recognized autosomal dominant syndrome of rhizomelic shortness with clavicular defect
Authors: Wallis Colin , Zieff Solly , Goldblatt Jack , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a mother and son with an inherited skeletal disorder of rhizomelic short stature and lateral clavicular defects. This entity has apparently not been reported previously and represents a newly recognized autosomal dominant skeletal dysplasia.
Partial trisomy 9—further delineation of the phenotype
Authors: Smart Ronald D. , Viljoen Denis L. , Fraser Brian , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA patient with partial trisomy 9 (47,XX,+9pter→q22.1) had bilateral cleft lip and cleft palate, enophthalmos, severe micrognathia, small, apparently low‐set ears, and dislocatable knees.The phenotypic findings are compared with those of other documented cases of total trisomy 9.
Macrosomia and mental retardation: Evidence of autosomal dominant inheritance in four generations
Authors: Mangano L. , Palmeri S. , Dotti M. T. , Moschini F. , Federico A. , Neri Giovanni , Reynolds James F. 
Published: June 2005

AbstractWe describe a large family with 14 persons presenting macrosomia with or without mental retardation in which dominant transmission is evident over 4 generations. A wide range of phenotypic variability was observed, some patients showing macrosomia and mental impairment, others only macrosomia. The cases will be discussed in relationship with other conditions in which the 2 signs may be present, and above all in Sotos sequence.
Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome
Authors: Bamforth J. Stephen , Leonard Claire O. , Chodirker Bernard N. , Chitayat David , Gritter Hilda L. , Evans Jane A. , Keena Beth , Pantzar Tapio , Friedman Jan M. , Hall Judith G. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe five patients with Fryns syndrome. Four presented with diaphragmatic hernia and died in the neonatal period. One did not have diaphragmatic involvement and survived but is severely mentally retarded. All patients had “coarse” faces, microretrognathia, macrostomia, and distal digital hypoplasia. In addition to previously reported traits, our patients had clinical manifestations that have not previously been described, including omphalocele, broad claviles, Hirschsprung “disease,” and anal anomalies. The condition was detected antenatally in three of the cases. The patients include two sib pairs, further supporting autosomal recessive inheritance.
The genetics of Crohn disease: Complex segregation analysis of a family study with 265 patients with Crohn disease and 5,387 relatives
Authors: Küster Wolfgang , Pascoe Leigh , Purrmann Jochen , Funk Sabine , Majewski Frank , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have analysed the pedigrees of 265 probands with Crohn disease, collected from a specialty clinic at the University of Düsseldorf. Complex segregation analysis suggests the presence of a recessive gene with incomplete penetrance for susceptibility to the disease with no residual causes of family resemblance. However, a proportion of the isolated cases are probably due to phenocopies, this proportion being greatest among cases with an advanced age of onset.
Aplasia of pectoralis major muscle and renal anomalies
Authors: Hegde Hardally R. , Leung Alexander K. C. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe two patients with aplasia of the pectoralis major muscle and renal anomalies. We think such an association, which has been reported previously, represents a new congenital malformation, probably not a syndrome but an acro‐pectoro‐renal field defect. We recommend renal ultrasonography be done on all children with aplasia of the pectoralis major.
Tricho‐rhino‐phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3–24.13
Authors: Yamamoto Yoshifumi , Oguro Noriko , Miyao Masutomo , Yanagisawa Masayoshi , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractHere we report on a 13‐year‐old boy who had an interstitial deletion of the long arm of chromosome 8 [46,XY,del(8)(pter→q23.3::q24.13→qter)]. He had the facial features of the tricho‐rhino‐phalangeal (TRP) syndrome and severe mental retardation, but lacked multiple exostoses. This is the first report with such a peculiar combination of abnormalities and interstitial deletion of 8q.
Neu‐Laxova syndrome: Pathological, radiological, and prenatal findings in a stillborn female
Authors: Russo Rosa , D'Armiento Maria , Martinelli Pasquale , Ventruto Valerio , Neri Giovanni , Reynolds James F. 
Published: June 2005

AbstractWe describe a case of Neu‐Laxova syndrome in a stillborn female. She was born at 41 weeks of gestation to consanguineous Italian parents, who had had 2 previous stillborn offspring. Pathological, radiological, and prenatal studies are reported.
Growth hormone deficiency, Wormian bones, dextrocardia, brachycamptodactyly, and other midline defects
Authors: Stratton Robert F. , Parker Mark W. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a 17‐month‐old boy with Wormian bones, short stature, growth hormone deficiency, developmental delay, brachycamptodactyly, dextrocardia, cryptorchidism, midshaft hypospadias, hypoplastic left kidney, and imperforate anus. This unique combination of abnormalities has not been reported previously.
Dystrophin immunocytochemistry in muscle culture: Detection of a carrier of Duchenne muscular dystrophy
Authors: Miranda Af , Francke U , Bonilla E , Martucci G , Schmidt B , Salviati G , Rubin M. 
Published: June 2005

AbstractDystrophin is the gene product which is affected in Duchenne muscular dystrophy(DMD). We studied differentiating clonal muscle cultures derived from normal muscle and from the mother of a DMD patient by immunocytochemistry, using anti‐dystrophin antibody. While clonal cultures derived from normal muscle expressed dystrophin in all myotubes, two populations of myogenic cells could be demonstrated in muscle from this possible DMD carrier; in 13 clones the myotubes expressed dystrophin and in 7 clones dystrophin was undetectable. No DNA deletion, duplication or rearrangement was detected by Southern blot analysis of DNA from this family using cDNA probes. Thus, immunocytochemical analysis of clonal muscle cultures may be a useful method to determine whether mothers of DMD patients are carriers of the DMD mutation, especially in the absence of demonstrable gene defects.
Age‐related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population
Authors: Plauchu Henri , De Chadarévian Jean‐Pierre , Bideau Alain , Robert Jacques‐Michel 
Published: June 2005

AbstractWe report the results of a comprehensive and systematic clinical study of 324 patients with hereditary hemorrhagic telangiectasia, selected from a total of 1,270 cases recruited by epidemiological survey. In 94% of the cases, familial occurrence suggested autosomal dominant inheritance; maximum penetrance for at least one manifestation was 97%. Epistaxis was reported by 96% of the patients and, in more than 50%, developed before age 20. Heavy and frequent bleeding occurred mainly in middle‐aged patients. Telangiectasia was documented in 74% of cases, half of whom were younger than 30 years. The frequency of involvement of the hands and wrists was 41%, and for the face, 33%. Visceral involvement was present in 25% of patients, with affected lungs and CNS in the young and gastrointestinal tract and liver in older patients. Symptomatic urinary tract involvement was seen in only two/324 patients. Involvement of other internal sites was not observed.
Congenital microgastria and hypoplastic upper limb anomalies
Authors: Lueder Gregg T. , Fitz‐James Anna , Dowton S. Bruce 
Published: June 2005

AbstractSix cases of congenital microgastria associated with limb anomalies are reviewed. The microgastria‐hypoplastic upper limb association may arise as a result of aberrant mesodermal development in the 5th embryonic week.
A presumptive translocation 1p;2q resulting in duplication 1p and deletion 2q
Authors: Halal Fahed , Vekemans Michel , Der Kaloustian Vazken M. 
Published: June 2005

AbstractHere we report on a girl with a translocation between 1 and 2 and duplication 1p and deletion 2q resulting in a multiple congenital anomaly syndrome including intrauterine growth retardation, microcephaly, hypotelorism, cleft palate, subglottic stenosis, umbilical hernia, scoliosis, anal atresia, bilateral calcaneovalgus, overlapping toes, and vertebral anomalies.
Expanding the phenotype of the Proteus syndrome: A severely affected patient with new findings
Authors: Mayatepek Ertan , Kurczynski Thaddeus W. , Ruppert Elizabeth S. , Hennessy James R. , Brinker Ray A. , French Beatrice N. 
Published: June 2005

AbstractHere we report on a boy who died at 16 1/2 months with hemihypertrophy, eye abnormalities, macrodactyly, hamartomas, pigmented nevi, cerebral involvement, and other anomalies compatible with the Proteus syndrome. In addition, he also had abnormalities previously unreported in the Proteus syndrome including craniosynostosis and complex congenital heart defects. He seems to represent an extremely severe form of the Proteus syndrome and expands the already broad range of the phenotype.
Problems in genetic counseling in a family with an “atypical” centronuclear myopathy
Authors: Müller Bertram , Mostacciuolo Maria Luisa , Danieli Gian Antonio , Grimm Tiemo 
Published: June 2005

AbstractGenetic counseling often deals with a rare disease the inheritance of which is not clearly established or in which genetic heterogeneity is reported. In addition, relevant parameters such as penetrance, gene frequency, and mutation rate may not be available. In this situation, establishing the risk may be very difficult. An example is presented in which Bayesian risk calculation proved to be of great help in providing precise risk estimates in a family in which an “atypical” centronuclear myopathy was segregating.
Pena‐Shokeir phenotype in sibs with macrocephaly but without growth retardation
Authors: Lammer Edward J. , Donnelly Susan , Holmes Lewis B. 
Published: June 2005

AbstractA number of more or less distinct subgroups with the Pena‐Shokeir phenotype have been identified. We studied two brothers with the Pena‐Shokeir phenotype who were unusual because they had macrocephaly and normal growth. In the second sib, no neuromuscular abnormalities were found at autopsy. Among the subgroups with Pena‐Shokeir phenotype, these sibs resemble the family reported by Ohlsson et al. [1988] more than the other subgroups that have been proposed. In addition, abnormalities were detected by prenatal ultrasonography during the 18th week of gestation of the second fetus. This finding provides additional evidence that this phenotype may be detected early enough in gestation to consider intervention.
Nonketotic hyperglycinemia in a patient with the 9p– syndrome
Authors: Burton Barbara K. , Pettenati Mark J. , Block Steven M. , Bensen Jeannette , Roach E. Steve 
Published: June 2005

AbstractWe describe a newborn infant with 9p– syndrome and nonketotic hyperglycinemia. This unusual occurrence may not have been coincidental and suggests that there may be a gene for nonketotic hyperglycinemia located on the short arm of chromosome 9.
Chromosome mosaicism in 6,000 amniocenteses
Authors: Wilson Miriam G. , Lin Ming S. , Fujimoto Atsuko , Herbert William , Kaplan Fay M. 
Published: June 2005

AbstractMultiple cell–multiple flask mosaicism was found in 0.20% of 6,000 amniocenteses, and multiple cell–single flask mosaicism was found in 0.92%. Multiple cell–multiple flask mosaicism usually was found in fetal or infant tissues at delivery or elective abortion.Most multiple cell–multiple flask mosaicism involved sex chromosomes and was either 45, X/46, XY or 45, X/46, XX. Except for one fetus with 45, X/46, XX and an aortic coarctation, phenotypic abnormalities associated with sex chromosome mosaicism were not found in these patients. One normal boy has continued to show 45,X mosaicism during the first 4 years of life.Autosome abnormalities found in multiple cell–multiple flask mosaicism included del(18q) associated with fetal anomalies. Apparently normal phenotypes were associated with prenatal trisomy 17, two de novo supernumerary marker chromosomes, and monosomy 21.Since an aberrant cell line present in only one primary amniotic fluid cell culture was occasionally identified from another amniocentesis or at birth, multiple cell–single flask mosaicism involving a sex chromosome or a viable autosome abnormality cannot be assumed to be an in vitro event.Maternal cell contamination, which was found in 0.49% of amniocenteses, could have resulted in an erroneous diagnosis of fetal sex in two cases if cells from independent culture vessels were not examined.
Echinogenic action of L‐α‐lysophosphatidylcholine in Duchenne muscular dystrophy: A study on carrier detection
Authors: Tangorra A. , Curatola G. , Milaniy‐Comparetti M. , Ferretti G. 
Published: June 2005

AbstractThe percentage of echinocytes induced after red cell treatment with L‐α‐lysophosphatidylcholine in the blood of 16 patients affected by Duchenne muscular dystropy (DMD) has been evaluated. Moreover, 15 mothers, 10 sisters, and 15 fathers were also included in the study. We found an increased level of echinocytes in dystrophic patients and in known and possible carriers. Correlations were also evaluated between echinocytes and serum enzymes used in DMD diagnosis, showing an increase of echinocytes also in DMD carriers with normal levels of serum creatine kinase, lactate dehydrogenase, and aldolase.Our results suggest that the sensitivity of erythrocytes to L‐α‐lysophosphatidylcholine in DMD could be used as a diagnostic test for carrier detection.
Sex vesicle “entrapment”: Translocation or nonhomologous recombination of misaligned Yp and Xp as alternative mechanisms for abnormal inheritance of the sex‐determining region
Authors: Stalvey John R. D. , Durbin Edward J. , Erickson Rober T. P. 
Published: June 2005

AbstractAbnormal inheritance of the sex determining region, normally located on Yp, results in about 1 in 20,000 phenotypic males with a 46,XX genotype. Studies to date indicate that many 46,XX males apparently arise due to a balanced, yet abnormal, nonhomologous interchange of Xp and Yp termini. However, 2 of the 5 XX males we report here have 3 copies of the pseudoautosomal locus, MIC2. Thus, they appear to have inherited the sex determining region as a result of Yp sequences being added onto the X pseudoautosomal region. Such an unequal, extremely nonhomologous interchange could alternatively be considered to arise from an unbalanced translocation of Yp to Xp. Our results suggest that very unequal interchange or translocation of Yp sequences onto the X pseudoautosomal region is not as rare a mechanism for XX males as originally thought. We also suggest that sex vesicle “entrapment” favors the association of a Yp fragment to the X pseudoautosomal region over a translocation to either Xq or an autosome.
Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy
Authors: Clarke J. T. R. , Skomorowski M. A. , Chang P. L. 
Published: June 2005

AbstractIn a child with enzymatically and histopathologically proven metachromatic leukodystrophy (MLD), the disease pursued a course typical of juvenile MLD characterized by neurological degeneration beginning at age 9 years and ending in death at age 18. A younger brother of the patient was found to have profound deficiency of arylsulfatase A in leukocytes and to excrete five‐ to 20‐fold greater than‐normal amounts of sulfatide in the urine. He was completely free of symptoms attributable to MLD until age 16 when he developed acute cholecystitis caused by sulfatide accumulation in the gallbladder. Results of detailed neurological examination at age 21 years were normal; formal psychometric assessment showed a full‐scale IQ of 105 (Wechsler). Studies on cultured skin fibroblasts from the brother showed defects in arylsulfatase A activity, measured with the use of synthetic and natural substrates, and in radiolabeled sulfatide turnover. Cellulose acetate gel electrophoresis of fibroblast extracts from the patient showed no detectable arylsulfatase A isozyme under conditions that clearly distinguished pseudo‐arylsulfatase A deficiency from classical MLD. Biochemically, the patient was indistinguishable from patients with classical MLD; on the other hand, his clinical course is dramatically more benign than that of his sister who was affected with severe MLD.
Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader‐Willi syndrome
Authors: Tantravahi Umadevi , Nicholls Robert D. , Stroh Helene , Ringer Steven , Neve Rachael L. , Kaplan Lawrence , Wharton Robert , Wurster‐Hill Doris , Graham John M. , Cantú Eduardo S. , Frias Jaime L. , Kousseff Boris G. , Latt Samuel A. 
Published: June 2005

AbstractTen genomic DNA probes, subcloned from inserts derived from a phage library constructed from the DNA of flow‐sorted chromosomes, have now been mapped to locations within 15q11–15q13. By dosage blotting and densitometry, 5 of these probes map to the 15q11.2–15q12 segment missing in one 15 chromosome of a Prader‐Willi syndrome (PWS) patient with a prominent cytological deletion. A sixth probe most likely maps to the same region. The other 4 probes map outside of this segment but within 15q11–15q13. Several of the 15q11.2–15q12 probes, and a cDNA probe homologous to one, have been used to test the DNA from 8 patients exhibiting a wide range of the clinical manifestations expected for PWS patients. DNA deletion was observed in all 3 patients with cytological 15q1 deletions as well as in a patient with an unbalanced (Y;15) translocation. DNA from 1 PWS patient with an unbalanced (5; 15) translocation and an inverted duplication of the short arm and proximal long arm of 15 showed at least 1 and possibly 2 extra copies of each genomic probe tested. In the other 3 patients with no cytological deletions, no DNA deletions were found. Thus, the molecular probes described can be used in most PWS patients to analyze the region of proximal 15q implicated in this syndrome.
A syndrome of primary gonadal failure, short stature, mitral valve prolapse, and mental retardation
Authors: Cantalamessa Luigi , Baldini Marina , Ambrosi Bruno , Fraccaro Marco 
Published: June 2005

AbstractTwo brothers referred for hypogonadism presented with short stature, mild mental retardation, and minor anomalies. In addition, both patients had hypogonadism due to primary gonadal failure and mitral valve prolapse, in the absence of other heart defects. A complete hormonal evaluation in one of the patients showed abnormal growth hormone (GH) and gonadotropin responses to different stimuli, findings suggestive of a disorder of hypothalamic‐pituitary regulation. Both patients had normal chromosomes (46,XY) as did their mother (46,XX), who had some of the clinical manifestations found in her sons but in a milder form. We propose that this is a new syndrome.
Autosomal recessive acro‐fronto‐facio‐nasal dysostosis associated with genitourinary anomalies
Authors: Richieri‐Costa A. , Montagnoli L. , Kamiya T. Y. 
Published: June 2005

AbstractWe report a 6‐month‐old boy, born of consanguineous (first‐cousin) parents (F = 1/16) presenting microbrachycephaly, wide forehead, marked hypertelorism, broad nose with a midline groove with a bilateral small “blind dimple” in each side, hypospadias, syndactyly between fingers 3 and 4, broad thumbs, and halluces. This association of anomalies suggests the diagnosis of a “new” type of acrofronto‐facio‐nasal dysostosis. Normal chromosomes, parental consanguinity, and familial occurrence suggest autosomal recessive inheritance.
Johanson‐Blizzard syndrome: Clinical and pathological findings in 2 sibs
Authors: Gould Nevenka S. , Paton John B. , Bennett Angela R. 
Published: June 2005

AbstractHere we report on 2 sibs with the Johanson‐Blizzard syndrome (JBS). The first child died in the neonatal period, the autopsy showing presence of pancreatic ducts and islets surrounded by connective tissue and a total absence of acini. Morphologic changes suggested dysplasia leading to developmental failure, but early acinar destruction could not be ruled out. The second child had a constellation of abnormalities consistent with JBS, was managed surgically, and is maintained on replacement for his pancreatic enzyme and thyroid hypofunction. At 10 years, he is in a school for the hearing‐impaired and is performing appropriately for his age.
Duplication of 5ql1.2→q13.1 from a familial (5;20) balanced insertion
Authors: Yip Moh‐Ying , Kemp John , Hanson Nils , Wilson Meredith , Purvis‐Smith Stuart , Lam‐Po‐Tang P. R. L. 
Published: June 2005

AbstractA 2‐year‐old boy with gross motor delay and few minor anomalies has a pure duplication of a small segment of chromosome 5q11.2→q13.1. A balanced insertion of this 5q segment into chromosome 20q proximal to the centromere has been found in his father, uncle, and paternal grandmother.
Terminal deletion 4q in a severely retarded boy
Authors: de Michelena Maria I. , Campos Patricia J. 
Published: June 2005

AbstractWe report a boy with a de novo terminal deletion of chromosome 4q, (q31 → qter) and compare him to 17 previously reported cases with the same anomaly. This case contributes further to the delineation of the del(4)(q31) phenotype, which seems to be clinically recognizable.