bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cytogenetic findings of a child with transcobalamin II deficiency
Authors: Vance Gail H. , Moncino Mark , Heerema Nyla A. 
Published: June 2005

AbstractTranscobalamin II deficiency is a rare, probably autosomal recessive, inborn error of protein metabolism [Hakami et al., 1971]. Several authors have described the morphological characteristics of bone marrow aspirates from patients with this disorder; no reports have detailed the cytogenetic findings [Hitzig et al., 1974; Hakami et al., 1971; Niebrugge et al., 1982]. We report the cytogenetic findings of the bone marrow aspirates from an infant with transcobalamin II deficiency and identity fragile site expression in the hematopoietic cells in this patient. © 1993 Wiley‐Liss, Inc.
Brachydactylous dwarfs of Mseleni
Authors: Viljoen Denis , Fredlund Victor , Ramesar Raj , Beighton Peter 
Published: June 2005

AbstractEight individuals with an unusual dwarfing skeletal dysplasia have been investigated in a remote rural area in Northern Zululand, South Africa. These dwarfed individuals are members of a community numbering some 10,000 persons; approximately 20% have a degenerative arthropathy affecting mainly the major joints of the hips, knees, ankles, and spine. The pathogenesis of the latter disorder, which is known as Mseleni joint disease (MJD), remains obscure. The dwarfed persons have some radiological findings in keeping with MJD, but they are, in addition, of short stature and have marked brachydactyly of their fingers and toes. The pathogenetic relationship between these conditions, if any, is unclear but may have important implications for their causal elucidation. © 1993 Wiley‐Liss, Inc.
Brain magnetic resonance imaging findings in the Opitz G/BBB syndrome: Extension of the spectrum of midline brain anomalies
Authors: MacDonald Madeleine R. , Schaefer G. Bradley , Olney Ann Haskins , Tamayo Marta , Frías Jaime L. 
Published: June 2005

AbstractWe report the brain magnetic resonance imaging findings in 4 patients with the Opitz BBB/G syndrome. The scans were assessed by subjective interpretation and computerized image analysis. Findings noted in 3 of the 4 patients include hypoplasia or agenesis of the corpus callosum (3 patients), cortical atrophy and ventriculomegaly (3 patients), macro cisterna magna (3 patients), and a wide cavum septum pellucidum (1 patient). One patient had a normal scan. The demonstration of a wide cavum septum pellucidum extends the spectrum of midline brain anomalies (ventral induction defects) reported in this condition. This study along with other recent reports suggests that midline brain anomalies may be frequent findings in Opitz syndrome. © 1993 Wiley‐Liss, Inc.
True telomeric translocation in a baby with the Prader‐Willi phenotype
Authors: Reeve Ann , Norman Andrew , Sinclair Paul , Whittington‐Smith Ruth , Hamey Yvonne , Donnai Dian , Read Andrew 
Published: June 2005

AbstractWe report on a baby with a nonreciprocal de novo unbalanced translocation between chromosomes 12 and 15. Her karyotype was 45,XX,−12, –15, +der(12)t(12;15) (pter→qter::q13→qter). The paternal origin of the 15q11‐13 region was shown by DNA marker studies and, consistent with this, the baby had the Prader‐Willi (PWS) phenotype. The breakpoint on 12q was distal to D12S11 (λMS43) which maps to 12q24.3‐qter. Fluorescent in situ hybridization using the oligonucleotides (TTAGGG)7 and (AATCCC)7 showed that the 12q telomere was still present within the translocated chromosome. Thus, the translocation was within or onto the end of the telomere of 12q. This unusual translocation is further evidence of an unexplained instability of the 15q11‐13 region. © 1993 Wiley‐Liss, Inc.
Alpers progressive infantile neuronal poliodystrophy: An acute neonatal form with findings of the fetal akinesia syndrome
Authors: Frydman Moshe , Jager‐Roman Elke , de Vries Liat , Stoltenburg‐Didinger Gisela , Nussinovitch Moshe , Sirota Lea 
Published: June 2005

AbstractWe report on 8 patients from two families with Alpers syndrome. The onset in one family was prenatal and in the 4 patients who were examined, severe microcephaly, intrauterine growth retardation, and typical manifestations of fetal akinesia, including retrognathia, joint limitations, and chest deformity were found. The second family presented with an early infantile form. All the effected offspring had micrognathia and one had findings of fetal akinesia, comparable to those seen in the other family. Microcephaly was mild at birth and progressed with age. Refractory neonatal convulsions, swallowing difficulties, and pneumonia complicated the clinical course of patients in both families, and all the patients died before age 20 months. Results of comprehensive biochemical and metabolic studies in both families were normal and the diagnosis was supported by demonstration of extensive progressive brain atrophy on CT and typical histological findings. Patients without a detectable defect in energy metabolism and normal liver histology comprise a distinct subset of Alpers syndrome. Until the metabolic defect(s) is defined, we suggest naming the acute neonatal form of this subset of Alpers syndrome “type 1.”. © 1993 Wiley‐Liss, Inc.
Lethal multiple pterygium syndrome: Report of a case with neurological anomalies
Authors: Spearritt D. J. , Tannenberg A. E. G. , Payton D. J. 
Published: June 2005

AbstractWe report on a 22‐week female fetus with multiple pterygia, congenital joint contractures, muscle hypoplasia, cystic hygroma, hydrops, pulmonary and cardiac hypoplasia, facial anomalies, and growth retardation. Examination also documented microcephaly, brain immaturity, and severe cerebellar and pontine hypoplasia with absence of the pyramidal tracts. The spinal cord showed a marked decrease in size of all white matter tracts. The muscles were markedly hypoplastic. The relation of the neurological findings to the development of the syndrome is discussed. © 1993 Wiley‐Liss, Inc.
Isochromosome 18q in a girl with holoprosencephaly, DiGeorge anomaly, and streak ovaries
Authors: van Essen Anthonie J. , Schoots Coen J. F. , van Lingen Richard A. , Mourits Marian J. E. , Tuerlings Joep H. A. M. , Leegte Bieke 
Published: June 2005

AbstractWe report on the clinical and pathologic findings in a girl with isochromosome 18q (46, XX,i(18q)) who had combined manifestations of monosomy 18p and trisomy 18q. Major congenital anomalies included premaxillary agenesis, alobar holoprosenphaly, double Outlet right ventricle, DiGeorge anomaly and streak ovaries. The clinical spectrum in i(18q) is very broad. © 1993 Wiley‐Liss, Inc.
Mosaic tetrasomy 8p: Molecular cytogenetic confirmation and measurement of glutathione reductase and tissue plasminogen activator levels
Authors: Fisher Andrew M. , Barber John C. K. , Crolla John A. , James Rowena S. , Lestas Andres N. , Jennings Ian , Dennis Nicholas R. 
Published: June 2005

AbstractWe report the case of 5‐year‐old girl with severe developmental disabilities, skeletal anomalies, hypotonia, rectal atresia, malrotation of the intestine, horseshoe kidney, vesicoureteric reflux, and minor facial anomalies. Conventional cytogenetic techniques suggested that she had a mosaic 46,XX/47,XX,+i(8p) constitution, and the identity of the isochromosome was confirmed by in situ hybridization and chromosome painting. Polymorphic DNA markers are consistent with the i(8p) having arisen as the result of a segregation error and centromere misdivision at the second maternal meiotic division. The i(8p) ws seen in 17/25 (68%) lymphocytes at the age of one month but had declined to 31/100 (31%) cells by the age of 5 years. At this time the i(8p) was seen in 30/68 (44%) cultured skin fibrobasts. The proposita had an approximately twofold increase in red cell glutathione reductase activity but a normal level of tissueplasminogen activator. These enzyme results are consistent with the known localisation of the glutathione reductase gene on the short arm of chromosome 8 but suggest that the tissue‐plasminogen activator gene may map outside this region. © 1993 Wiley‐Liss, Inc.
Long‐term follow‐up of two sibs with Larsen syndrome possibly due to parental germ‐line mosaicism
Authors: Petrella Rena , Rabinowitz Jack G. , Steinmann Beat , Hirschhorn Kurt 
Published: June 2005

AbstractLarsen syndrome is a heterogeneous (autosomal dominant or recessive) disorder of characteristic facial changes, multiple joint dislocations, and bone deformities. Few data on the adult presentation of the recessive form of this disorder have been reported; thus, we set out to describe two sibs thought to be affected with autosomal recessive Larsen syndrome who were evaluated as infants and later as adults. Aside from secondary joint changes and the presence of cataracts, changes described in children with autosomal recessive Larsen syndrome were noted. Three years after evaluation, the sister gave birth to a daughter with Larsen syndrome. This occurrence raises the possibility of germ‐line mosaicism as the mode of inheritance in this family. Thus, germ‐line mosaicism must be considered in the genetic counseling of families with Larsen syndrome in which neither parent appears affected. These patients also illustrate that despite the severe skeletal and joint deformities, the prognosis can be good with careful orthopedic management. © 1993 Wiley‐Liss, Inc.
Galloway‐Mowat syndrome of abnormal gyral patterns and glomerulopathy
Authors: Cooperstone Brenda G. , Friedman Aaron , Kaplan Bernard S. 
Published: June 2005

AbstractThe combination of microcephaly, gyral abnormalities, developmental delay, and a glomerulopathy constitutes a recognizable syndrome. The inheritance is autosomal recessive. Additional abnormalities may include seizures, minor facial anomalies, and hiatal hernia. Onset of proteinuria often occurs in the first 3 months of life, but always before age 3 years. A uniform pattern of renal histologic changes has not been found. There is no effective treatment for the neurologic or renal manifestations of this condition. The prognosis is extremely poor; every patient but one has died before age 5½ years. Antenatal diagnosis may be possible. © 1993 Wiley‐Liss, Inc.
Possible association between the hernia of Morgagni and trisomy 21
Authors: Honoré Louis H. , Torfs Claudine P. , Curry Cynthia J. R. 
Published: June 2005

AbstractOf the 5 liveborn infants with the hernia of Morgagni recorded in the California Birth Defects Monitoring Program, 3 had trisomy 21. This significant association (P < 10−6) between the hernia of Morgagni and trisomy 21 may reflect defective dorsoventral migration of rhabdomyoblasts from the paraxial myotomes, caused by increased cellular adhesiveness in trisomy 21. © 1993 Wiley‐Liss, Inc.
Gerodermia osteodysplastica: Report on two patients and surgical correction of facial deformity
Authors: Lustmann Joshua , Nahlieli Oded , Harary Doron , Casap Nardi , Neder Amos , Zlotogora Joël 
Published: June 2005

AbstractWe present four individuals with Gerodermia Osteodysplastica in a Jewish family from Morocco confirming the autosomal recessive inheritance of the disorder. Three previously unreported findings are described: (a) enlarged funnel‐shaped mandibular lingula; (b) extension of the mandibular premolar and molar roots below the inferior dental canal, and of the second molars into the lower border of mandibular cortical bone; and (c) hypercementosis of the maxillary incisors and mandibular molars surrounded by a radiolucent halo in several teeth. The facial deformity resulting from maxillary hypoplasia and mandibular prognathism was corrected by orthognathic surgery: Le Fort I maxillary osteotomy and vertical mandibular osteotomy. © 1993 Wiley‐Liss, Inc.
Newly recognized autosomal recessive MCA/MR/ overgrowth syndrome
Authors: Richieri‐Costa A. , Guion‐Almeida M. L. , Cohen M. M. 
Published: June 2005

AbstractWe report on two sibs, born to nonconsanguineous parents, presenting with mental retardation, overgrowth, craniosynostosis, distal arthrogryposis, sacral dimple, and joint laxity. These patients may have a previously undescribed autosomal recessive syndrome. © 1993 Wiley‐Liss, Inc.
Cardio‐facio‐cutaneous (CFC) syndrome in a child carrying an inherited inversion of chromosome 7
Authors: Lopez‐Rangel E. , Hrynchak M. , Friedman J. M. 
Published: June 2005

AbstractWe describe a 6½‐year‐old girl with the cardio‐facio‐cutaneous (CFC) syndrome. She presents with most of the characteristics of this condition: typical facial changes, congenital heart defect, slow growth, ectodermal dysplasia, and developmental delay. Chromosome analysis disclosed a 46,XX,inv(7)(q21.2q 31.2) mat karyotype. © 1993 Wiley‐Liss, Inc.
GAPO syndrome in three relatives in a Turkish kindred
Authors: Şayli Bekir Sitki , Gül Davut 
Published: June 2005

AbstractGAPO syndrome in 2 sibs (brother and sister) and in a first cousin presented slight variations in the clinical picture. These include presence of some body hair, white eyelashes, deep furrows on sternum and back, disproportional body build, and minor skeletal abnormalities. It has been suggested that the athletic appearance of affected individuals is most likely due to the excessive amount of connective tissue. © 1993 Wiley‐Liss, Inc.
Genetic syndromes and uniparental disomy: A study of 16 cases of Brachmann‐de Lange syndrome
Authors: Shaffer Lisa G. , Overhauser Joan , Jackson Laird G. , Ledbetter David H. 
Published: June 2005

AbstractUniparental disomy is responsible for a proportion of cases in Prader‐Willi, Angelman, and Wiedemann‐Beckwith syndromes. In these syndromes, the chromosomes involved are thought to contain one or more imprinted genes. When two copies of the imprinted (inactivated) gene are inherited from a single parent through uniparental disomy or the active gene is deleted, the phenotype of the syndrome results. Our goal is to indentify additional syndromes caused by uniparental distomy. Our approach is to select syndromes that appear to have more than one mode of inheritance and are occasionally associated with a cytogenetic abnormality. Given this criterion, we have chosen Brachmann‐de Lange Syndrome (BDLS) to investigate since the phenotype is similar to that found in patients with dup(3q).We have studied 16 probands with BDLS and their parents using a multiplex of four PCR‐based polymorphic loci on chromosome 3. None of the probands studied had uniparental disomy for chromosome 3 and all demonstrated normal biparental inheritance for at least one locus. Given these results, uniparental disomy of chromosome 3 does not appear to be a major contributor to the syndrome. Additionally, both maternally and paternally derived chromosome abnormalities have resulted in the dup(3q) phenotype and dominant inheritance of BDLS from both mildly affected mothers and father have been reported which suggests that imprinting is not involved in these syndromes. © 1993 Wiley‐Liss, Inc.
Prenatal Detection of epidermolysis bullosa letalis with pyloric atresia in a fetus by abnormal ultrasound and elevated alpha‐fetoprotein
Authors: Dolan Cynthia R. , Smith Lynne T. , Sybert Virginia P. 
Published: June 2005

AbstractWe report on the prenatal diagnosis of epidermolysis bullosa letalis with pyloric atresia in a pregnancy not known to be at risk for this condition. Elevated maternal serum alphafetoprotien levels led to ultrasonography which demonstrated gastric dilatation, consistent with pyloric atresia, and echogenic particles in the amniotic fluid, the “snowflake sign,” previously described in two pregnancies of fetuses with disorders of skin sloughing. Amniotic fluid alpha‐fetoprotien was markedly elevated and the acetylcholinesterase was positive. The diagnosis of epidermolysis bullosa letalis with pyloric atresia was confirmed after delivery by electron microscopy of fetal skin which showed typical changes of hypoplastic absent hemidesmosomes and separation along the dermal‐epidermal junction. None of these abnormal prenatal findings are consistently present in pregnancies with epidermolysis bullosa with pyloric atresia. Thus, although useful when abnormal, when the test results are normal, the need for confirmatory fetoscopy and fetal skin biopsy remains. © 1993 Wiley‐Liss, Inc.
Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: A distinct syndrome
Authors: Ladda Roger L. , Zonana Jonathan , Ramer Jeanette C. , Mascari Maria J. , Rogan Peter K. 
Published: June 2005

AbstractBrother were affected with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal. Molecular studies of DNA markers, closely flanking the X‐linked hypohidrotic ectodermal dysplasia locus, did not show evidence of a submicroscopic deletion from the Xq12‐q13 region. The parents and a normal sister exhibited none of these findings. This constellation of anomalies appears to represent a unique AR or XLR syndrome. © 1993 Wiley‐Liss, Inc.
Sagittal craniosynostosis, Dandy‐Walker malformation, and hydrocephalus: A unique multiple malformation syndrome
Authors: Braddock Stephen R. , Jones Kenneth L. , Superneau Duane W. , Jones Marilyn C. 
Published: June 2005

AbstractThe Dandy‐Walker malformation and craniosynostosis have each been described as isolated occurrences and as components of multiple malformation syndromes. The purpose of this report is to delineate the characteristics of a multiple malformation syndrome of Dandy‐Walker malformation and sagittal craniosynostosis. The inheritance pattern appears to be autosomal dominant. © 1993 Wiley‐Liss, Inc.
Diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness: A newly recognized autosomal recessive disorder?
Authors: Donnai Dian , Barrow Margaret 
Published: June 2005

AbstractWe describe unrelated male and female patients with an identical syndrome of diaphragmatic hernia, exomphalos, hypertelorism, agenesis of the corpus callosum, severe sensorineural deafness, and severe myopia. One child had an iris coloboma. After the birth of the first affected child in each family subsequent pregnancies were monitored with ultrasound scan and a further affected fetus was identified in both families. We conclude that this constellation of anomalies represents a distinct, previously unreported syndrome with likely autosomal recessive inheritance. © 1993 Wiley‐Liss, Inc.
Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes
Authors: Müller F. ‐M. , Barth G. M. , Menger H. , Spranger J. 
Published: June 2005

AbstractWe report on sibs of both sexes with a multiple malformation syndrome of cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers. The older boy died in a tonic extension spasm at age 4 months. When discharged, the younger girl was 3.5 months old. This appears to be an autosomal recessive syndrome which to our knowledge has not been described before. © 1993 Wiley‐Liss, Inc.
Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: A new MCA/MR syndrome of unknown cause
Authors: Richieri‐Costa A. , Guion‐Almeida M. L. 
Published: June 2005

AbstractWe report on 2 unrelated Brazilian girls, born to nonconsanguineous parents, and presenting structural central nervous system defects, hydrocephaly, macrocephaly, craniosynostosis, prominent forehead, anophthalmia, and abnormal nares. These patients may have a previously undescribed recurrent‐pattern cerebro‐oculo‐nasal syndrome. © 1993 Wiley‐Liss, Inc.
Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet in male patients
Authors: Richieri‐Costa A. , Pereira Sonia Cristina Silveira 
Published: June 2005

AbstractWe report on 2 unrelated Brazilian boys with the syndrome of autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet. This is the first report of male patients. © 1993 Wiley‐Liss, Inc.
MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): An X‐linked phenotype distinct from Goltz syndrome
Authors: Happle R. , Daniëls O. , Koopman R. J. J. 
Published: June 2005

AbstractBilateral microphthalmia with blepharophimosis, linear lesions of dermal aplasia involving the face, and microcephaly were present in a newborn girl who died at age 9 months from cardiomyopathy resulting in ventricular fibrillation. Autopsy showed an atrial septum defect, persistent gross trabeculation of the left ventricle, and an arteria lusoria. This case represents a further example of a new entity for which we propose the term MIDAS syndrome. The acronym stands for microphthalmia, dermal aplasia, and sclerocornea. Our patient is the second with this syndrome to have a major congenital heart defect. Cytogenetic studies reported in previous cases indicate that the underlying gene defect can be assigned to Xp22.3. This new X‐linked malelethal trait should be distinguished from focal dermal hypoplasia that will be found to map elsewhere on the X‐chromosome. © 1993 Wiley‐Liss, Inc.
Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage (Teebi–Shaltout syndrome): Clinical and autopsy findings
Authors: Froster Ursula G. , Rehder Helga , Höhn Wilfried , Oberheuser Friedhelm 
Published: June 2005

AbstractTeebi and Shaltout [1989: Am J Med Genet 33: 58–60] described a new syndrome of craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage in children born to a consanguineous couple. We report on a second family with the same pattern of anomalies occurring in a liveborn female and 3 spontaneously aborted fetuses, and include autopsy findings. As additional findings 2 of our cases had unilateral microphthalmia and kidney anomalies. Our observation confirms that this pattern of anomalies is a distinct syndrome with autosomal recessive inheritance; we suggest the synonym Teebi–Shaltout syndrome. © 1993 Wiley‐Liss, Inc.
Extension of the cleft lip phenotype: The subepithelial cleft
Authors: Martin Rick A. , Jones Kenneth L. , Benirschke Kurt 
Published: June 2005

AbstractWe present a previously undescribed occult malformation of the upper lip manifest by discontinuity of the orbicularis oris muscle. The relationship of this defect to our current concept of abnormal maxillary process development is discussed along with a proposal to extend the cleft lip phenotype. © 1993 Wiley‐Liss, Inc.
Patient with double heterozygosity for achondroplasia and pseudoachondroplasia, with comments on these conditions and the relationship between pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type
Authors: Langer Leonard O. , Schaefer G. Bradley , Wadsworth Deborah T. 
Published: June 2005

AbstractWe present a 7½‐year‐old girl with achondroplasia and pseudoachondroplasia. Her mother has achondroplasia and her father has pseudoachondroplasia. Radiographic manifestations of these two conditions from infancy to age 6 years are outlined. The findings in this patient are compared with those of achondroplastic patients and pseudoachondroplastic patients of similar ages. Our review of radiographs of many pseudoachondroplastic patients and subsequently of those of patients with multiple epiphyseal dysplasia (MED), Fairbank type, reinforced our opinion that pseudoachondroplasia and multiple epiphyseal dysplasia, Fairbank type, are closely related conditions. MED, Fairbank type, may be the mildest form of pseudoachondroplasia. Recently published electron microscopic findings also suggest this. © 1993 Wiley‐Liss, Inc.