bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetics of conotruncal malformations: Review of the literature and report of a consanguineous kindred with various conotruncal malformations
Authors: Rein Azaria J. J. T. , Dollberg Shaul , Gale Rena 
Published: June 2005

AbstractGenetic predisposition in congenital heart disease is considered to be a component of multifactorial inheritance. Recently, monogenic inheritance in conotruncal malformations has been suggested. We describe a consanguineous kindred with various conotruncal malformations, the presence of which lends support to the idea that this spectrum of malformation is monogenically inherited.Theoretical background and experimental and clinical data are reviewed and discussed.
Syndrome of congenital cutis laxa with ligamentous laxity and delayed development: Report of a brother and sister from Turkey
Authors: Oğur Gönül , Yüksel‐Apak Memnune , Demiryont Misten 
Published: June 2005

AbstractCongenital cutis laxa with ligamentous laxity and delayed development has recently been defined as a distinct entity of autosomal recessive inheritance. Here we report on 2 new cases of this syndrome. With severe manifestations in the male, X‐linked dominant inheritance is discussed. Results of ultrastructural studies of skin and biochemical studies are reported.
Mesomelic dysplasia with absence of fibulae and hexadactyly: Nievergelt syndrome or new syndrome?
Authors: Petrella Rena , Ludman Mark D. , Rabinowitz Jack G. , Gilbert Fred , Hirschhorn Kurt 
Published: June 2005

AbstractMesomelic dysplasia is a form of short‐limb dwarfism characterized by disproportionate shortness of the middle segment of all limbs. Included in this category of skeletal disorders is the Nievergelt syndrome, which typically manifests a rhomboidal shape of the tibiae and fibulae, an unusual foot deformity, radio‐ulnar synostosis, and dysplasia of the elbow and knee joints. We describe a patient with mesomelic dysplasia with findings suggestive of the Nievergelt syndrome and with absence of fibulae and hexadactyly.
EEC syndrome: Report on 20 new patients, clinical and genetic considerations
Authors: Rodini Elaine S. O. , Richieri‐Costa A. 
Published: June 2005

AbstractWe report on 20 Brazilian patients (11 sporadic and 9 familial cases) with the ectrodactyly, ectodermal dysplasia, clefting syndrome (EEC syndrome). Genetic aspects, clinical manifestations, and differential diagnosis of the syndromes involving ectodermal dysplasia/limb anomalies and cleft lip/palate are discussed.
Determining the origins and the structural aberrations of small marker chromosomes in two cases of 45,X/46,X, +mar by use of chromosome‐specific DNA probes
Authors: Lin C. C. , Meyne Juliane , Sasi Ramakrishnan , Bowen Peter , Unger T. , Tainaka Tomomi , Hadro Teresa A. , Hoo Joe J. 
Published: June 2005

AbstractA 17‐year‐old girl (S.M.) and a 13‐year‐old girl (C.L.) both with Ullrich‐Turner syndrome (UTS) were found to have 45,X/46,X, +mar mosaicism. The marker chromosomes in both patients were very small in size. In S.M. the marker chromosome was present in 80% of phytohemaglutinin‐stimulated lymphocytes, 28% of skin fibroblasts, and 11–20% of gonadal fibroblasts. In C.L., the small marker chromosome was found in 50% of stimulated lymphocytes. S.M. is of normal height, but C.L. is short. Molecular hybridization with a number of Y‐specific DNA probes demonstrated their presence in S.M. but absence in C.L. In situ hybridization with Y‐specific and X‐centromere‐specific DNA probes confirmed the Y origin of the marker chromosome in S.M. and the X origin of the minute chromosome in C.L. Biotinylated centromere and telomere probes were also used for in situ hybridization to show the presence of centromeric and telomeric sequences in the Y‐marker chromosome, suggesting that the deletion of this marker chromosome is interstitial.
Transient hypoglycemia with hyperinsulinemia in a newborn infant with Rubinstein–Taybi syndrome
Authors: Wyatt David 
Published: June 2005

AbstractA newborn boy with Rubinstein–Taybi syndrome who had profound neonatal hypoglycemia is presented. The infant was a discordant fraternal twin with intrauterine growth retardation. The hypoglycemia was due to transient hyperinsulinemia, a condition often seen in small‐for‐gestational‐age infants. Neonatal hypoglycemia may be common in infants with Rubinstein–Taybi syndrome, especially if they also have intrauterine growth retardation.
Neurologic manifestations in 18q– syndrome
Authors: Miller Geoffrey , Mowrey Philip N. , Hopper Kenneth D. , Frankel Carl A. , Ladda Roger L. 
Published: June 2005

AbstractWe report a mother and son with a deletion at 18q22.3. Both have the typical manifestations of the 18q– syndrome. In addition, both have an action tremor which became apparent in childhood. The mother subsequently developed chorea and dysmetria in late adolescence. Magnetic resonance imaging of their brains showed poor myelination of the central white matter tracts with relatively normal myelination of the corpus callosum. We propose that these neurologic findings are most likely due to a failure of expression of the myelin basic protein gene.
Marfan syndrome associated with bicuspid aortic valve, premature aging, and primary hypogonadism
Authors: Gershoni‐Baruch R. , Moor E. V. , Enat R. 
Published: June 2005

AbstractWe report on a patient with classical manifestations of Marfan syndrome (MS) and unusual findings such as bicuspid aortic valve (BAV), premature aging, and primary hypogonadism.
Patterns of mood states in pregnant women undergoing chorionic villus sampling or amniocentesis
Authors: Tunis Sandra L. , Golbus Mitchell S. , Copeland Karen L. , Fine Beth A. , Rosinsky Barbara J. , Seely Linda 
Published: June 2005

AbstractThe purpose of this study was to compare paterns of self‐reported mood states of women having chorionic villus sampling (CVS) (n = 151) to those of women electing amniocentesis (n = 30) with the indication of advanced maternal age. Mood states were defined as scores on the 6 subscales of the Profile of Mood States (POMS). Women at 4 U.S. prenatal diagnostic facilities completed the POMS at 4 assessment periods. These were (a) at their initial genetic counseling session, (b) 2 weeks post CVS results (or an equivalent time), (c) 2 weeks post amniocentesis results (or an equivalent time), and (d) at 30 weeks gestation. Repeated measures analysis of variance revealed that anxiety, fatigue, and confusion decreased, and vigor increased in both groups as the pregnancy progressed. Depression decreased in both groups and then increased at assessment 4 in women in the amniocentesis group but not in those electing CVS. Results should be interpreted in conjunction with obstetrically and genetically‐oriented findings regarding safety and accuracy to help women decide between the 2 procedures.
New type of X‐linked progressive muscular dystrophy involving shoulder girdle and back
Authors: Ji Xue‐Wen , Tan Jun , Chen Xiao‐Yi , Yi Shao‐Xuan , Liang Hong 
Published: June 2005

AbstractA new type of X‐linked muscular dystrophy is described in a family in which 7 men had boyhood onset of progressive dystrophy involving muscles of the shoulder and back but not the calves or face. The scapula‐back muscles are affected, but the calf muscles are normal. All patients are still able to walk. The oldest patient is now 37 years old. The muscular dystrophy has been specified by electromyography, pathologic tissue microscopic examination, electron microscopic study, and elevated CK. This type of muscular dystrophy has not been reported previously.
Arthrogryposis, cholestatic pigmentary liver disease and renal dysfunction: Report of a second family
Authors: Di Rocco M. , Reboa E. , Barabino A. , Larnaout A. , Canepa M. , Savioli C. , Cremonte M. , Borrone C. 
Published: June 2005

AbstractWe report on a boy, born to consanguineous parents, who had arthrogryposis, cholestatic liver disease, and renal dysfunction. The child died at age 2 months, and autopsy showed pigmentary storage disease in liver cells, nephrocalcinosis, and rarefaction of motor neuron cells in the anterior horns of spinal cord. This association, reported in 1979 by Nezelof et al., is a distinctive syndrome. The possibility of an autosomal recessive or an X‐linked inheritance is discussed.
Holoprosencephaly: Examples of clinical variability and etiologic heterogeneity
Authors: Corsello Giovanni , Buttitta Piera , Cammarata Marina , Lo Presti Alfio , Maresi Emiliano , Zumpani Luigi , Giuffrè Liborio 
Published: June 2005

AbstractClinical variability and causal heterogeneity of holoprosencephaly is discussed in relation to several newborn infants with cyclopia (cases 4,5,6), cebocephaly (cases 2,3), and premaxillary agenesis (case 1). In subjects with holoprosencephaly, the presence of multiple malformations is an indicator of concomitant chromosome aberrations, as in present case 1 (Down syndrome) and case 3 (trisomy 13). Cases 5 and 6 are two monozygotic twins with the same type of cyclopia and alobar holoprosencephaly recognized by prenatal ultrasonographic, cytogenetic, and pathological studies is pointed out in view of etiologic evaluation, genetic counseling, and prevention of holoprosencephaly.
Clinical diagnosis of partial duplication 7q
Authors: Bartsch Oliver , Kalbe Udo , Ngo Thi Kim Nhan , Lettau Reinhard , Schwinger Eberhard 
Published: June 2005

AbstractWe report on two sibs with partial dup (7q), a retarded 9‐month‐old boy and an aborted fetus of 17 weeks' gestational age. Besides minor anomalies, the boy had frontal bossing, macrocephaly with hydrocephaly, a high forehead, and a large fontanelle. GTG banded chromosomes showed a 14p+ abnormality. Because his mother carries a balanced, de novo translocation with a breakpoint in band 7q33, the boy has a duplication of the distal portion of band 7q33 and the segment 7q34	qter. Our findings suggest that the phenotype in terminal duplications of 7q may, in some patients, be recognized clinically.
Acrofacial dysostosis with ambiguous genitalia
Authors: Wulfsberg Eric A. , Curtis Jerri , Wiswell Thomas E. , Puntel Robert A. , Levin Sondra W. 
Published: June 2005

AbstractWe report on a 46,XY infant with mandibulofacial dysostosis, preaxial and postaxial limb anomalies, urethral stenosis with left hydronephrosis, and ambiguous genitalia with phallic/scrotal transposition. This infant with atypical pre/postaxial acrofacial dysostosis (AFD) is the first to be reported with ambiguous genitalia. The acrofacial dysostoses are a heterogenous group of disorders characterized by varying degrees of mandibulofacial dysostosis with acral limb defects and may represent a polytopic field defect. These disorders have generally been separated on the basis of their limb anomalies into preaxial, postaxial, lethal, and atypical types. Most cases are sporadic, but various causes have been postulated including autosomal dominant and recessive inheritance, a chromosome 2q duplication, and a possible case of diabetic embryopathy. We review the nonfacial/limb anomalies in other cases of AFD and compare them to those of our case, thereby expanding the spectrum of anomalies in these disorders.
Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma
Authors: Harding Cary O. , Pagon Roberta A. 
Published: June 2005

AbstractCardiac rhabdomyoma, a rare benign tumor often detected in infancy, is frequently associated with tuberous sclerosis. This association is commonly stated to occur in 50% of all cases of cardiac rhabdomyoma. Recently at our institution, the prenatal detection of a cardiac rhabdomyoma in a fetus at no known risk for tuberous sclerosis emphasized the need to determine the frequency of association in order to provide accurate diagnosis and counseling in such situations. After a review of reported cases and review of patients from our institution diagnosed to have cardiac rhabdomyoma, we estimate that 51–86% of cardiac rhabdomyomas are associated with tuberous sclerosis. We present the results of our literature and case review.
Baller‐Gerold syndrome: An 11th case of craniosynostosis and radial aplasia
Authors: Boudreaux Jeanne M. , Colon Marc A. , Lorusso Giovanni D. , Parro Elizabeth A. , Pelias Mary Z. 
Published: June 2005

AbstractWe report on a patient with craniosynostosis, left radius aplasia, right radius hypoplasia, and other congenital anomalies. This is the 11th reported case of the Baller‐Gerold syndrome. Autosomal recessive inheritance of this syndrome is suggested by evidence of probable parental consanguinity.
Opitz C syndrome and pseudohypoaldosteronism
Authors: De Koster Jan , Legius Eric , De Zegher Francis , Devlieger Hugo , Fryns Jean‐Pierre , Eggermont Ephrem 
Published: June 2005

AbstractThe C syndrome of multiple congenital anomalies is described in a male infant with pseudohypoaldosteronism. The association of these 2 rare autosomal recessive conditions is discussed.
Persistent hyperinsulinemic hypoglycemia of infancy (“nesidioblastosis”): Autosomal recessive inheritance in 7 pedigrees
Authors: Glaser Benjamin , Phillip Moshe , Carmi Rivka , Lieberman Ester , Landau Heddy 
Published: June 2005

AbstractPersistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI) is a rare disease characterized clinically by persistent hypoglycemia with inappropriately elevated circulating insulin concentrations. Here we report on 7 pedigrees including 21 cases. The pedigrees are derived from 3 distinct ethnic groups, and include a very large Bedouin family, and Arab family, and 5 smaller pedigrees of Jewish families all of Eastern European origin. Data obtained from these families and from other families reported in the literature strongly suggest that PHHI is inherited as an autosomal recessive disorder.
Monozygotic twins discordant for the Russell‐Silver syndrome
Authors: Samn Michael , Lewis Kathleen , Blumberg Bruce 
Published: June 2005

AbstractRussell‐Silver syndrome is a disorder of unknown cause. A number of familial cases have suggested autosomal dominant inheritance. We report on monozygotic twins discordant for the Russell‐Silver syndrome. Our findings suggest that the cause of Russell‐Silver syndrome is not explained entirely by genetic factors. The possible role of the intrauterine environment as an etiologic component of Russell‐Silver syndrome is discussed.
Cohen syndrome and de novo reciprocal translocation t(5;7) (q33.1;p15.1)
Authors: Fryns Jean‐Pierre , Kleczkowska Alice , Smeets Eric , Thiry Paul , Geutjens Jaak , Van den Berghe Herman 
Published: June 2005

AbstractHere we report on a de novo apparently balanced reciprocal 5q;7p translocation in a 15‐year‐old girl with apparent Cohen syndrome characterized by hypotonia, obesity, multiple congenital anomalies, and mental retardation. This case may indicate that the gene for Cohen syndrome is at 5q33.1 or 7p15.1.
Sexual discordance in monozygotic twins
Authors: Perlman Elizabeth J. , Stetten Gail , Tuck‐Müller Cathy M. , Farber Rosann A. , Neuman Wilma L. , Blakemore Karin J. , Hutchins Grover M. 
Published: June 2005

AbstractWe report on monozygotic (MZ) twins who were discordant for phenotypic sex and UIIrich‐Turner syndrome (UTS). The nonviable female was hydropic with cystic hygromas, ventricular septal defect, bicuspid aortic valve, polysplenia, intestinal malrotation, and small ovaries. The male was phenotypically normal. The monochorionic, diamniotic placenta had hydropic changes limited to the UTS infant's side. Skin samples from the infants and blood from their parents were obtained for cytogenetic and molecular analysis. Karyotypes of the twins were 45,X and 46,XY. Quinacrine polymorphisms on 7 chromosomes and RFLP analysis at 8 loci showed complete identity. MZ twins discordant for phenotypic sex have been described previously. Most of these show evidence of mosaicism in a 45,X patient with a normal 46,XY cell line, and a normal 46,XY male. While the issue of mosaicism in our case cannot be fully resolved, no mosaicism was found in 50 cells analyzed cytogenetically from each culture or by PCR analysis of a Y‐specific sequence. The twins probably originated from either postzygotic nondisjunction or anaphase lag, followed or accompanied by twinning. The discordant placental morphology suggests an embryonic origin of at least part of the placental mesenchymal core.
ADAM sequence and innocent amniotic band: Manifestations of early amnion rupture
Authors: Yang S. Samuel 
Published: June 2005

AbstractThirteen placentas with early amnion rupture (EAR) are described. These placentas were characterized by the absence of amniotic epithelium on the fetal surface, presence of a slightly fibrotic small amniotic band (remnant) attaching to the umbilical cord at the placental end, and the presence of degenerated vernix squamous cells in the fibrous stroma of chorion and amnion. Eight fetuses had ADAM sequence. Six of these fetuses were miscarried between 16 and 28 weeks of gestation. Two affected infants were born alive at gestational ages of 29 and 39 weeks. Five infants were spared by ADAM sequence; two had the umbilical cord strangulated by an amniotic band and were delivered at 27 and 37 weeks. In the 3 infants unassociated with ADAM sequence or strangulation of the umbilical cord, their placentas were interpreted as having innocent amniotic band (IAB) and they were delivered between 32 and 40 weeks. The findings in this study support Torpin's hypothesis that ADAM sequence is a complication of EAR. This ADAM sequence due to simple EAR must be separated from the limb body wall malformation complex because visceral anomalies are uncommon in the former condition but are frequently seen in the latter. In this study the placental pathology of EAR was helpful in confirming the ADAM sequence in the fetus.
Roberts syndrome or “X‐linked amelia”?
Authors: Gershoni‐Baruch Ruth , Drugan Arie , Bronshtein Moshe , Zimmer Etan Z. 
Published: June 2005

AbstractWe report on a syndrome of tetra‐amelia, facial clefts, absence of ears, nose, and atresia ani, affecting 7 male infants or fetuses in one Arab Moslem kindred. The combination of anomalies described in each affected member is consistent with Roberts syndrome and the prevalence of intermarriage in this kindred could suggest an autosomal recessive mode of inheritance. Alternatively, the existence of a new syndrome, namely, “X‐linked amelia” is proposed.
Prenatal diagnosis of Fraser syndrome at 18.5 weeks gestation, with autopsy findings at 19 weeks
Authors: Schauer G. M. , Dunn L. K. , Godmilow L. , Eagle R. C. , Knisely A. S. 
Published: June 2005

AbstractSonography permitted the diagnosis of Fraser syndrome (cryptophthalmos‐syndactyly syndrome) at 18.5 weeks of gestation in a fetus whose parents had had a previous affected child. The karyotype of that child was 46,XX,inv(9)(p11q21); the karyotype of the phenotypically normal father and of the fetus was 46,XY,inv(9)(p11q21). Findings on sonography included oligohydramnios with nonvisualization of kidneys, hypertelorism and microphthalmia, and markedly enlarged lungs. On autopsy at 19 weeks, findings included renal agenesis, cryptophthalmos with multiple abnormalities of the eyes and ocular adnexa, laryngeal atresia, pulmonary hyperplasia with accelerated maturation, absence of the Eustachian tube with connective tissue occuying the tympanic cavity and bone occluding the external acoustic meatus, and soft‐tissue webbing between the digits. This is the second reported instance of prenatal diagnosis of Fraser syndrome in the second trimester. The histopathologic findings in Fraser syndrome at this gestational age, in particular the eye and ear, have not been described previously.
A familial MCA/MR syndrome due to translocation t(10;16)(q26;p13.1): Report of six cases
Authors: Bofinger Mary K. , Opitz John M. , Soukup Shirley W. , Ekblom Linda S. , Phillips S. , Daniel Arthur , Greene Edward W. 
Published: June 2005

AbstractA minute familial translocation t(10;16) (q26;p13.1) was detected in a family with 6 affected children in 2 generations and 9 carriers in 3 generations. This apparently unique translocation is associated with a deleterious syndrome which includes fetal hydrops, ascites, complex congenital heart defect, psychomotor retardation, failure to thrive, hypotonia, narrow palpebral fissures, abnormally modeled, apparently low‐set ears, cleft palate, thumb abnormalities, hypogenitalism, inguinal hernia, and sparse hair. All children of known or presumed carriers have been either balanced or unbalanced carriers of this translocation.
Routine use of methods for improved G‐band resolution in a population of patients with malformations and developmental delay
Authors: Mascarello J. T. , Hubbard V. 
Published: June 2005

AbstractWe report on an 11‐year experience in which cell culture synchronization and other methods for improving cytogenetic detail were used to study 2,245 patients presenting with malformations and (usually) developmental delay. Not including patients presenting with one of the so‐called “contiguous gene syndromes,” 30 patients (1.1% of the study population) were found to have karyotypes characterized by structural alterations that were either subtle enough to be judged undetectable in standard metaphase preparations or subtle enough to have escaped detection in previous banded studies. Analysis of the detail available for 6 chromosome pairs suggests that the average banding detail available for these analyses fell short of that considered to be “high‐resolution” but was, nevertheless, more than would have been expected from standard metaphase preparations.
Autosomal recessive inheritance of vasopressin‐resistant diabetes insipidus
Authors: Langley J. M. , Balfe J. W. , Selander T. , Ray P. N. , Clarke J. T. R. 
Published: June 2005

AbstractWe report on 2 intellectually normal sisters with vasopressin‐resistant (nephrogenic) diabetes insipidus (NDI). The sex of the patients, the history of parental consanguinity, and the fact that both parents formed normally concentrated urine suggested that the NDI in the 2 sisters was the result of inheritance of an autosomal recessive mutation affecting renal tubular water reabsorption. The results of DNA analysis of the DXS52 locus with the use of St14 as probe, shown by Knoers et al. [1988] to be tightly linked to the NDI locus on the X‐chromosome, showed that each girl inherited different Xq28 regions of the maternal X chromosomes, ruling out a diagnosis of classical X‐linked NDI.
Fibrochondrogenesis in male twins at 24 weeks gestation
Authors: Bankier A. , Fortune D. , Duke J. , Sillence D. O. 
Published: June 2005

AbstractFibrochondrogenesis is a rare lethal chondrodysplasia. Only 5 cases have been reported. We report on a pair of affected twins diagnosed at 24 weeks of gestation. Occurrence in sibs and consanguinity in the parents in a previous report support autosomal recessive transmission.
A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus‐merzbacher disease
Authors: Pratt Victoria M. , Trofatter James A. , Schinzel Albert , Dlouhy S. R. , Conneally P. M. , Hodes M. E. 
Published: June 2005

AbstractA C‐to‐T transition in exon 4 of the PLP gene was found in 2 affected males and two obligate carriers in a German family with Pelizaeus–Merzbacher disease. The mutation, which causes loss of an HphI site and changes amino acid 155 from threonine to isoleucine, was absent from 108 normal chromosomes. There are 5 concordances and 1 discrepancy between these results and those obtained by magnetic resonance imaging in this family.