bluuebunny/crossref_metadata_2025_split huggingface dataset:
Acrocallosal syndrome: Additional manifestations
Authors: Casamassima Anthony C. , Beneck Debra , Gewitz Michael H. , Horowitz Marc A. , Woolf Paul K. , Pettersen Isabel M. , Shapiro Lawrence R. 
Published: June 2005

AbstractThe acrocallosal syndrome (ACS) is a probable autosomal recessive condition of macrocephaly, craniofacial and hand and foot abnormalities, absence of the corpus callosum, and mental retardation. This patient had characteristics of the ACS but also had a severe congenital heart defect and other visceral malformations. After comparing the ACS with and contrasting it to other disorders, we concluded that the internal organ abnormalities found in this patient probably represent further manifestations of the ACS.
Incidence of 15q deletions in the Angelman syndrome: A survey of twelve affected persons
Authors: Williams Charles A. , Gray Brian A. , Hendrickson Jill E. , Stone John W. , Cantú Eduardo S. 
Published: June 2005

AbstractPrometaphase chromosome study of 12 persons with an established diagnosis of the Angelman syndrome demonstrated that 5 had a 15q12 deletion appearing similar to that commonly observed in the Prader‐Willi syndrome. Phenotype‐karyotype correlation did not show any obvious clinical differences between those with and those without the deletion and no clinical overlap between Angelman and Prader‐Willi syndrome was apparent. Our survey suggests that 15q12 deletions are frequent in Angelman syndrome but presence of the deletion does not appear to distinguish different clinical phenotypes. Experience with the cytogenetic study of Prader‐Willi syndrome predicts that considerable complexity will emerge between the presence of 15 chromosome abnormalities and clinical expression of Angelman syndrome.
Direct duplication of chromosome 1, dir dup(1)(p21.2 → p32) in a Bedouin boy with multiple congenital anomalies
Authors: Mohammed F. M. A. , Farag T. I. , Gunawardana S. S. , Al‐Digashim D. D. , Al‐Awadi S. A. , Al‐Othman S. A. , Sundareshan T. S. 
Published: June 2005

AbstractHere we describe a Bedouin boy with a de novo duplication of 1p and multiple congenital anomalies. He had microcephaly, convergent squint, anteverted nostrils, malformed ears, micrognathia, hypoplasia of the terminal phalanges, clinodactyly of 5th fingers, simian creases, left inguinal hernia, cryptorchidism, and severe postnatal growth retardation. Our clinical findings are compared with those of previous reports of duplication involving chromosome 1p.
Limb deficiency in an infant with Smith‐Lemli‐Opitz syndrome
Authors: Singer Lewis P. , Marion Robert W. , Li John K. H. 
Published: June 2005

AbstractWe describe a 46,XY newborn infant with Smith‐Lemli‐Opitz syndrome (SLOS) with multiple congenital anomalies including female external genitalia, a testis palpable in each labium majus, a cone‐shaped cervix, and normal vagina. Additional anomalies included cleft palate, total anomalous pulmonary venous return, and striking limb defects (ectrodactyly of the left upper limb, radial aplasia, and monodactyly of the right upper limb). To our knowledge, this is the first report of SLOS associated with limb deficiency and the third associated with total anomalous pulmonary venous return. Our patient demonstrates that limb deficiencies may be a rare component manifestation in this syndrome of multiple congenital anomalies.
Glutaric aciduria type II: Review of the phenotype and report of an unusual glomerulopathy
Authors: Wilson Golder N. , de Chadarévian Jean‐Pierre , Kaplan Paige , Loehr James P. , Frerman Frank E. , Goodman Stephen I. 
Published: June 2005

AbstractA male infant with glutaric aciduria II secondary to electron transfer flavoprotein: ubiquinone oxidoreductase deficiency is compared to previously reported cases of glutaric aciduria II. A common pattern of anomalies in patients with malformations (8/16) includes macrocephaly, large anterior fontanelle, high forehead, flat nasal bridge, telecanthus, and malformed ears. Abnormalities such as hypotonia, cerebral gliosis, heterotopias, hepatomegaly, hepatic periportal necrosis, polycystic kidneys, and genital defects in glutaric aciduria II are reminiscent of those in Zellweger syndrome, whereas elevations of glutaric, ethylmalonic, adipic, and isovaleric acids are quite distinctive. A unique ultrastructural alteration of the glomerular basement membrane was observed in the proposita. This manifestation may represent an early stage in renal cyst formation and provide a diagnostic criterion for glutaric aciduria II when enzyme studies are unavailable.
Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritance
Authors: Zatz Mayana , Passos‐Bueno Maria Rita , Rapaport Debora 
Published: June 2005

AbstractThe aim of the present report was to estimate the proportion of autosomal recessive (AR) inheritance among families with affected males diagnosed as Duchenne muscular dystrophy (DMD) in which X‐linked inheritance could not be confirmed. A total of 470 families was studied: 20 with at least one affected girl with “Duchenne‐like” phenotype and 450 with only affected boys. Based on the number of families with at least one affected girl and the number of patients per sibship among these pedigrees, the proportion of families with DMD inherited as an AR trait was estimated at 6.8%. It is also estimated that 2.5–4% of male isolated patients diagnosed as DMD may have the AR form, which could be one possible explanation for the inconsistent results between clinical diagnosis and dystrophin assessment in one case recently reported.
Multibranched chromosomes in the ICF syndrome: Immunodeficiency, centromeric instability, and facial anomalies
Authors: Turleau Catherine , Cabanis Marie‐Odile , Girault Danièle , Ledeist Françoise , Mettey René , Puissant Hugues , Prieur Marguerite , De Grouchy Jean 
Published: June 2005

AbstractA new patient with the rare ICF syndrome (immunodeficiency, centromeric heterochromatin instability, and facial anomalies) is reported. The six patients previously reported in the literature are reviewed. The main clinical and cytogenetic characteristics of the syndrome are discussed.
Further delineation of the Nijmegen breakage syndrome
Authors: Taalman Rob D. F. M. , Hustinx Theo W. J. , Weemaes Corry M. R. , Seemanová Eva , Schmidt Angela , Passarge Eberhard , Scheres Jacques M. J. C. 
Published: June 2005

AbstractWe report on five independent families with a chromosome instability disorder that earlier had been called the Nijmegen breakage syndrome (NBS). These families, two from the Netherlands and three from Czechoslovakia, had a total of eight patients, five of whom are still alive. The main clinical manifestations were microcephaly, short stature, a “bird‐like” face, immunological defects involving both the humoral and the cellular system. In four of the five living patients it has been possible to study the chromosomes of cultured lymphocytes. The basic karyotype in these patients were normal, but in 17% to 35% of the metaphases rearrangements were found, preferentially involving chromosomes 7 and/or 14 at the sites 7p13, 7q34, and 14q11. The chromosomes of all five living patients were very sensitive to ionizing radiation. In addition, the DNA synthesis in their cultured lymphocytes and fibroblasts was more resistant to X‐rays than in cells from controls. The NBS shares a number of important features with ataxia telangiectasia (AT). Both syndromes are characterized by the occurrence of typical rearrangements of chromosomes 7 and/or 14, cellular and chromosomal hypersensitivity to X‐irradiation, radioresistance of DNA replication and immunodeficiency. However, there are also obvious differences: NBS patients have microcephaly but neither ataxia nor telangiectasia, and in contrast to the situation in AT the alpha‐fetoprotein level in their serum is normal.
Microscopic study of holoprosencephalic facial anomalies in trisomy 13 fetuses
Authors: Sperber G. H. , Honoré L. H. , Machin G. A. 
Published: June 2005

AbstractThe cerebral and facial anatomy of four trisomy 13 fetuses was studied in order to delineate the varying degrees of expression of severity of holoprosencephaly. Fetal heads were serially sectioned and analyzed microscopically in the horizontal plane. Examples of cyclopia, cebocephaly, and a proposed new category, premaxillary dysgenesis, were studied. The last category represents the least severe end of the facial spectrum of holoprosencephaly in this series. In this condition, there are deficiencies or clefts within the premaxilla, in contrast to the usual site of clefting between the maxilla and the premaxilla. There is asymmetry of the defects in the anterior midface of all four cases.
Polyasplenia complex with mesocardia and renal agenesis in an infant of a diabetic mother
Authors: Gonzalez Alfonso , Krassikoff Natalie , Gilbert‐Barness Enid F. 
Published: June 2005

AbstractDespite improved prenatal care, infants of diabetic mothers (IDM) have an increased risk of congenital malformations. We report on an IDM with multiple congenital anomalies consistent with the polyasplenia complex with associated mesocardia and renal agenesis. The morphologic characteristics of these malformations are discussed. Special emphasis is given to the polyasplenia complex as an example of midline developmental field defect. The importance of maternal levels of hemoglobin A1c in relation to congenital malformations is addressed.
Gaucher disease type I and pregnancy
Authors: Zlotogora J. , Sagi M. , Zeigler M. , Bach G. 
Published: June 2005

AbstractWe surveyed 47 pregnancies of 17 women affected with Gaucher disease (GD) type I. In two women affected with the severe form of GD type I, no change was observed in the course of the disease during pregnancy. In one patient with the moderate form of the disease there was an exacerbation of the disease during and after pregnancy, and thereafter two subsequent pregnancies of this woman ended by early spontaneous abortion. Four women were diagnosed during their pregnancy or soon after delivery suggesting in these women an exacerbation related to pregnancy. In the other ten women there was no change in the course of the disease. In general, the pregnancies of women affected with GD were normal; however, six women needed blood transfusion during pregnancy or at delivery. From these data it is suggested that there is some risk to pregnant women affected with GD type I, and accordingly, appropriate follow‐up should be planned at the beginning of pregnancy in these patients.
Tricho‐rhino‐phalangeal and branchio‐oto syndromes in a family with an inherited rearrangement of chromosome 8q
Authors: Haan E. A. , Hull Y. J. , White S. , Cockington R. , Charlton P. , Callen D. F. 
Published: June 2005

AbstractHere we report on a family with an inherited rearrangement of chromosome 8q, dir ins(8)(q24.11q13.3q21.13). Individuals with the chromosome abnormality, which does not appear to be associated with deletion of chromosome material, have manifestations of both tricho‐rhino‐phalangeal syndrome (TRPS) and branchio‐oto syndrome (BOS). TRPS has been linked previously to deletions involving 8q24.11→q24.13, but none of the described patients with deletions in this part of 8q have had characteristics of the BOS. The presence of a breakpoint in 8q24.11 without apparent chromosome deletion in the family described suggests that TRPS maps to this band of 8q. Further, it is suggested that BOS maps to either 8q13.3 or 8q21.13.
Prometaphase chromosomes in the tricho‐rhino‐phalangeal syndrome type I
Authors: Yamamoto Yoshifumi , Oguro Noriko , Miyao Masutomo , Yanagisawa Masayoshi , Ohsawa Tadashi 
Published: June 2005

AbstractPrometaphase chromosome analysis was undertaken in a patient with familial tricho‐rhino‐phalangeal syndrome type I (TRPS‐I). The patient had apparently normal chromosomes and produced counterevidence to part of Bühler's hypothesis. Thus, although some cases of typical TRPS‐I may be derived from a deletion of 8q24.12, others might be caused by gene mutation or submicroscopic deletion involving the corresponding locus within the band 8q24.11 → 24.13.
Wisconsin consanguinity studies. II: Familial adenocarcinomatosis
Authors: Lebel Robert Roger , Gallagher William B. 
Published: June 2005

AbstractPredisposition to carcinoma in certain families has been recognized as an autosomal dominant trait. We describe a large pedigree (over 1,000 persons) including ten consanguineous unions with inbreeding coefficients from 0.02 to 0.17. Persons of consanguineous parentage accounted for 16 of 18 cases of adenocarcinoma (most of which were colorectal). Three women with breast cancer were relatives but not of consanguineous parentage. Only six of 36 persons with a malignancy of any kind were unrelated spouses, and only one of these had adenocarcinoma. Multiple primary carcinomas and/or early age‐of‐onset were observed only in products of consanguinity. In this extended family, the occurrence of adenocarcinoma appears to segregate as an autosomal recessive trait. It is conceivable that a proto‐oncogene is segregating in this family and that, in some members, consanguineous unions have produced homozygosity for this oncogene.
Optic atrophy, hearing loss, and peripheral neuropathy
Authors: Hagemoser Kristal , Weinstein Joel , Bresnick George , Nellis Robert , Kirkpatrick Susan , Pauli Richard M. 
Published: June 2005

AbstractHere we report on two families with a previously apparently undescribed, autosomal dominant disorder resulting in optic atrophy and subsequent development of hearing loss and peripheral neuropathy. This disorder differs from previous syndromes resulting in this triad of effects both in the severity and early onset of the optic atrophy and in its mode of transmission. Review of published cases of optic atrophy + hearing loss + peripheral neuropathy suggests that there are at least three such specific disorders; classification of these published cases by first‐appearing symptom also results in a clean division by most‐likely inheritance.
Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion
Authors: Bick David , Curry Cynthia J. R. , McGill John R. , Schorderet Daniel F. , Bux Robert C. , Moore Charleen M. 
Published: June 2005

AbstractWe report on a male infant with X‐linked ichthyosis, X‐linked Kallmann syndrome, and X‐linked recessive chondrodysplasia punctata (CPXR). Chromosome analysis showed a terminal deletion with a breakpoint at Xp22.31, inherited maternally. This patient confirms the localization of XLI, XLK, and CPXR to this region of the X chromosome and represents an example of a “contiguous gene syndrome.”A comparison of the manifestations of patients with CPXR, warfarin embryopathy, and vitamin K epoxide reductase deficiency shows a remarkable similarity. However, vitamin K epoxide reductase deficiency does not appear to be the cause of CPXR. We propose that CPXR may be due to a defect in a vitamin K‐dependent bone protein such as vitamin K‐dependent bone carboxylase, osteocalcin, or matrix Gla protein.
Two infants with del(3)(p25pter) and a review of previously reported cases
Authors: Ramer Jeanette C. , Ladda Roger L. , Frankel Carl 
Published: June 2005

AbstractDel(3)(p25pter) is associated with a characteristic multiple congenital anomalies/mental retardation syndrome. Early recognition of these manifestations and identification of the chromosome defect are essential for proper management and counseling.
Duchenne muscular dystrophy in monozygotic twins: Deletion of 5′ fragments of the gene
Authors: Lonasescu Victor V. , Searby Charles C. , Ionasescu Rebecca , Patil Shivanand 
Published: June 2005

AbstractA recombinant DNA study for deletion evaluation was performed in a 4 generation family with Duchenne muscular dystrophy (DMD) in twins. The patients were 6 years old, had a history of progressive difficulty in walking since age 4, and showed weak gluteals, iliopsoas, latissimus dorsi, rhomboids, lower trapezius, sternocleidomastoids, pseudohypertrophic calves, and tight heelcords. Both patients had high serum creatine kinase of 19,000 and 11,000 IU, respectively, and the muscle biopsy of the left vastus lateralis showed dystrophic alterations. Both twins had the same red cell types for ABO, Rh, CDE, MNSs, Kelly, Lewis, Duffy, and Kidd. HLA typing also detected the same antigens in both twins: A2, B44, DR4, and DR5. Cytogenetic studies were consistent with 46, XY male individuals with normal banding pattern. By cDNA probes the entire DMD gene was surveyed for missing or abnormal‐sized restriction fragments. Both twin boys showed absence of 8.5, 8.0, 4.6, 4.2, and 3.1 kb fragments on Hind III blots and absence of 13.5, 3.7, 2.9, and 1.4 kb fragments on Bgl II blots both hybridized with cDNA l‐2a corresponding to most 5′ region of the DMD gene. The mother and other relatives of the patient did not show deletion. These findings strongly suggest that the deletion in the DMD monozygotic twins represents a new mutation.
Weaver syndrome: The changing phenotype in an adult
Authors: Greenberg Frank , Wasiewski Warren , McCabe Edward R. B. 
Published: June 2005

AbstractWe report on a 25‐year‐old woman who was diagnosed with Weaver syndrome after reevaluation because of the family's concern regarding recurrence risk for mental retardation in offspring of the woman's brother. The diagnosis was suggested on the basis of postnatal growth excess, camptodactyly, and developmental delay, but with a somewhat atypical facial appearance. When childhood photographs were reviewed, her facial characteristics were more consistent with those of Weaver syndrome in early childhood, but became less obvious with age. This is the second adult reported with Weaver syndrome and provides documentation of the adult phenotype. The diagnosis may be more difficult to make in adolescents and adults if one uses criteria developed for facial manifestations in young children.
Validity of cytogenetic analyses from trophoblast tissue throughout gestation
Authors: Miny Peter , Basaran Seher , Pawlowitzki I. Harry , Horst Jürgen , Westendorp Andre , Niedner Wolfram , Holzgreve Wolfgang 
Published: June 2005

AbstractCytogenetic findings in the Münster Chorionic Villi Sampling (CVS) program are presented after 1,184 first trimester transcervical samplings and 131 second and third trimester placentacenteses. In the first trimester series the abnormality rate is low (2.4%) in patients with only an age‐dependent aneuploidy risk. In this group terminations were performed in only 1.6% because of aneuploidy. True mosaicism was found more frequently after CVS, and the risk of maternal cell contamination seems higher as compared to amniocentesis. There are no obvious differences in the overall rate of diagnostic errors after both procedures, when metaphases after direct preparation and chorionic cell cultures are analysed and doubtful findings such as mosaicism are adequately followed up by amniocentesis. The cytogenetic techniques also offer a very rapid approach to karyotyping in the second and third trimester. We found a high rate of aneuploidy (15%) when placentacentesis was performed after sonographic diagnosis of fetal abnormalities. We conclude that cytogenetic analysis from trophoblast tissue is an accurate diagnostic tool applicable from first to third trimester of pregnancy.
Two rare developmental defects of the lower limbs with confirmation of the lewin and opitz hypothesis on the fibular and tibial developmental fields
Authors: Pavone Lorenzo , Viljoen Denis , Ardito Salvatore , Rizzo Renata , Neri Giovanni , Longo Gianfranco , Beighton Peter 
Published: June 2005

AbstractWe report on two unrelated patients with malformations of the lower limbs. One had a unilateral apparent doubling of the volume of the femur with distal bifurcation, shortness of the tibiae, absence of fibulae, and lateral ray deficiencies of both feet. The other had a partial duplication of the distal left femur, hypoplasia and proximal dislocation of the ipsilateral tibia, syndactyly of the right 1st and 2nd toes, and preaxial polydactyly of the left foot. This report supports the hypothesis of Lewin and Opitz on the presence of two distinct fields of development: the fibular and the tibial.
Humero‐radial synostosis with ulnar defects in sibs
Authors: Ramer Jeanette C. , Ladda Roger L. 
Published: June 2005

AbstractSibs with virtually identical humero‐radial synostosis (HRS) are presented and compared with 17 previously reported cases from the literature of recessively transmitted HRS. The range of anomalies described includes (in addition to humero‐radial synostosis) ulnar hypoplasia, patellar hypoplasia, and chronic glomerulo‐nephritis.
Familial uterine hernia syndrome: Report of an Arab family with four affected males
Authors: Naguib Kamal K. , Teebi Ahmad S. , Farag Talaat I. , Al‐Awadi Sadika A. , El‐Khalifa Mohammed Y. , Mahfouz El‐Sayed 
Published: June 2005

AbstractWe report an Arab Bedouin family including four males with uterine hernia syndrome. All had a male chromosome constitution and phenotype, inguinal herniae, cryptochidism, and persistence of Müllerian derivatives. Histopathological studies confirmed the presence of both testicular tissue and Müllerian derivatives. The presence of two affected brothers and two affected maternal uncles suggests X‐linked inheritance. Autosomal recessive determination with male sex limitation is also a possibility based on parental consanguinity in one sibship.
Slowly progressive macrocephaly with hamartomas: A new syndrome?
Authors: Halal Fahed , Silver Kenneth 
Published: June 2005

AbstractWe report on an 8 1/2‐year‐old boy with slowly progressive macrocephaly, psychomotor retardation, multiple subcutaneous angiolipomas, hypertelorism, exotropia, prolonged drooling, cutis marmorata, telangiectasia, congenital heart defect, broad thumbs and great toes, and muscle wasting. The syndrome is similar to the Bannayan‐Zonana syndrome and seems to be inherited as an autosomal dominant trait. The father has partial manifestations of the syndrome.
A case of the Freire‐Maia odontotrichomelic syndrome: Nosology with EEC syndrome
Authors: Pavone Lorenzo , Rizzo Renata , Tiné Alessandra , Micali Giuseppe , Sorge Giovanni , Neri Giovanni 
Published: June 2005

AbstractWe report on a patient, born to consanguineous parents, who had a complex malformation syndrome of severe upper limbs anomalies, peculiar face, structural ear anomalies, nasolacrima1 duct obstruction, and abnormal hair and nails. We think that the clinical manifestations of the patient are similar to those described by Freire‐Maia as the odontotrichomelic syndrome; the differential diagnosis between thissyndrome and ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome is discussed.
Bilateral renal agenesis and Mullerian anomalies in a 47,XXX fetus
Authors: Hogge W. Allen , Vick Dan J. , Schnatterly Patricia A. , MacMillan R. Hunt 
Published: June 2005

AbstractCongenital absence of the kidneys (bilateral renal agenesis, BRA) is a genetically heterogeneous condition, and all modes of inheritance have been suggested as causes. The finding of a 47,XXX chromosome constitution in a fetus with BRA and developmental arrest of the mesonephric and paramesonephric systems raises the possibility that X chromosome trisomy also may cause the urogenital adysplasia sequence.