bluuebunny/crossref_metadata_2025_split huggingface dataset:
Proteus syndrome: Clinical evidence for somatic mosaicism and selective review
Authors: Cohen M. Michael 
Published: June 2005

AbstractI report 2 unusual cases of Proteus syndrome that support the concept of somatic mosaicism. In one patient, a huge connective tissue nevus covered the chest and abdomen and hyperostoses of the calvaria were observed. In the other patient, linear verrucous epidermal nevi, epibulbar dermoids, and hyperostoses were found. No enlargement of the limbs or digits occurred and the plantar surfaces of the feet were normal. Selective aspects of Proteus syndrome not previously reviewed are also presented including: uncommon neoplasms; pulmonary and renal abnormalities; brain malformations; facial phenotype associated with seizures and severe mental deficiency; and types of abnormal growth in the craniofacial skeleton. © 1993 Wiley‐Liss, Inc.
Johnson–McMillin syndrome: Report of another family
Authors: Hennekam Raoul C. M. , Holtus Frank J. A. M. 
Published: June 2005

AbstractWe describe a mother and son with facial nerve palsy, multiple truncal café‐au‐lait spots, and mild developmental delay. The mother also had hyposmia, increased tendency to caries, and growth retardation, and the son hypotrichosis, hearing loss, and microtia. This apparently autosomal dominant disorder was described first by Johnson et al. [1983: Am J Med Genet 15:497–506] and Johnston et al. [1987: Am J Med Genet 26:925–927]. © 1993 Wiley‐Liss, Inc.
Provisionally unique autosomal recessive chondrodysplasia punctata syndrome
Authors: Toriello Helga V. , Higgins James V. , Miller Theodore 
Published: June 2005

AbstractStippled epiphyses occur in several monogenie, teratogenic, or aneuploidy syndromes. We describe two sibs with a provisionally unique chondrodysplasia punctata syndrome, who have, in addition to stippled epiphyses, minor facial anomalies, short stature, and ocular colobomata. Inheritance of this condition is likely autosomal recessive. © 1993 Wiley‐Liss, Inc.
PHAVER syndrome: An autosomal recessive syndrome of limb pterygia, congenital heart anomalies, vertebral defects, ear anomalies, and radial defects
Authors: Powell Cynthia M. , Chandra Roma S. , Saal Howard M. 
Published: June 2005

AbstractWe have studied 2 sibs with vertebral, radial, congenital heart, and ear defects. The second patient also had limb pterygia and meningomyelocele. The abnormalities in these two sibs are seen in the VATER association; however, distinguishing these cases from the VATER association are the findings of pterygia, meningomyelocele, and probable autosomal recessive inheritance. We propose the acronym PHAVER syndrome for limb pterygia, heart defects, autosomal recessive inheritance, vertebral defects, ear anomalies and radial defects. This represents an new autosomal recessive disorder with phenotypic variability. © 1993 Wiley‐Liss, Inc.
Tetrasomy 9p: Tissue‐limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review
Authors: Grass Frank S. , Parke James C. , Kirkman Henry N. , Christensen Vicky , Roddey O. F. , Wade Ronald V. , Knuston Cam , Spence J. Edward 
Published: June 2005

AbstractSupernumerary isochromosomes resulting in autosomal tetrasomy are rare and have been described only for 12p, 18p, and 9p. Nineteen previous cases of tetrasomy 9p have been reported, and in 6 cases, tissue‐specific mosaicism was implied with the i(9p) cell line present exclusively or predominantly in blood. We report on an infant who had apparently normal chromosomes (46,XY) on CVS. He was referred for genetic evaluation because of mild developmental delay and minor anomalies. In 75% of blood cells he had an extra isodicentric 9p chromosome (pter→q12→pter). The interpretation of tetrasomy 9p was confirmed by elevated GALT activity. No tetrasomy 9p cells were seen in 100 skin fibroblasts. This case demonstrates the tissue specific mosaicism in tetrasomy 9p which rendered the anomaly undetectable by CVS. It also demonstrates the mild end of the clinical spectrum associated with tetrasomy 9p. © 1993 Wiley‐Liss, Inc.
Combined enzymatic and linkage analysis for heterozygote detection in Hunter syndrome: Identification of an apparent case of germinal mosaicism
Authors: Simon‐Schiff Elena Ben , Bach Gideon , Zlotogora Joël , Abeliovich Dvorah 
Published: June 2005

AbstractHunter syndrome is an X‐linked recessive disorder. Determination of heterozygotes is of vital importance in genetic counselling. We describe the DNA linkage analysis in 6 Hunter syndrome families and compare it to previous results based on a serum assay for IDS activity. Our results confirm the reliability of the serum assay. The serum test correctly detected 11/12 of the 1st degree relatives tested by the serum assay (6/7 carriers and 5/5 non‐carriers). The only case with an apparent false negative result in the serum test was a daughter of a “probable heterozygote” whose serum test was also negative. We suggest that in this family the mother represented a case of germinal mosaicism and her daughter, based on the serum test, was not a carrier. If our interpretation is correct, then the apparent false negative results were correct.It is concluded that in families where the mutation is not known and DNA analysis is not possible due to the lack of informative RFLPs or due to the lack of DNA samples on key individuals, as well as in sporadic cases, the serum test should be applied as an alternative option for heterozygote detection. © 1993 Wiley‐Liss, Inc.
de Lange syndrome: A clinical review of 310 individuals
Authors: Jackson L. , Kline A. D. , Barr M. A. , Koch S. 
Published: June 2005

AbstractThree hundred ten individuals with a clinical diagnosis of de Lange syndrome were seen and examined in conjunction with the parent support group. One hundred thirty‐four males and 176 females whose ages ranged from birth to 37 years made up the study group. Examination findings were recorded for those features described by de Lange in her original report of the syndrome to determine the frequency and significance of each. In addition, questionnaires were completed by 128 of these families and medical, growth and developmental records were collected. The clinical diagnosis seems best supported by the facial features of the syndrome including the long eyelashes and confluent eyebrows (synophrys), although additional characteristics are needed. Only 27% had the upper limb deficiencies commonly associated with the syndrome. Growth was retarded in nearly all individuals, often of prenatal onset. Medical problems occurred frequently and most often involved the eye and ear, as well as the cardiac and gastrointestinal systems. Of 14 deaths, almost half were secondary to cardiac or gastrointestinal complications. The recurrence risk in 377 sibs of the patients was calculated to be less than 1%. Although development lagged significantly in speech, most individuals developed good self‐help skills. The study demonstrated a higher proportion of patients affected mildly with the syndrome than is commonly appreciated. This underscores the importance of early recognition and appropriate medical and developmental support. © 1993 Wiley‐Liss, Inc.
Brachmann‐de Lange syndrome. Delineation of the clinical phenotype
Authors: Ireland M. , Donnai D. , Burn J. 
Published: June 2005

AbstractA total of 31 cases previously diagnosed as having Brachmann‐de Lange syndrome were ascertained and examined, of which 11 were thought to have been misdiagnosed. Of those correctly diagnosed, there appeared to be a phenotypic dichotomy with classical and mild cases. Those facial findings of greatest diagnostic value were the combination of the characteristic eyebrows, long philtrum, thin lips and crescent‐shaped mouth. The characteristic eyebrows were neat, well defined and arched as though they had been pencilled. This combination of anomalies was absent in postpubertal males but not in postpubertal females. Facial abnormalities most likely to lead to incorrect use of the eponym were hypertrichosis, synophrys, and bushy eyebrows. © 1993 Wiley‐Liss, Inc.
Metacarpophalangeal pattern profile analysis in Brachmann‐de Lange syndrome
Authors: Butler Merlin G. , Dahir George A. , Gale David D. , Meaney F. John 
Published: June 2005

AbstractWe analyzed the metacarpophalangeal pattern profile (MCPP) of 19 individuals with Brachmann‐de Lange syndrome (BDLS) and calculated a mean syndrome profile. Fourteen of 19 individuals with BDLS had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with BDLS compared with a sample of normal individuals produced a correct classification rate of 100% based on a function of 2 MCPP variables that may provide a useful tool for assisting in the diagnosis of BDLS. An average pattern variability index calculated for the BDLS patients was 1.9 indicating an abnormal hand pattern in this syndrome. © 1993 Wiley‐Liss, Inc.
Prenatal diagnosis of congenital diaphragmatic hernia not amenable to prenatal or neonatal repair: Brachmann‐de Lange syndrome
Authors: Jelsema Russel D. , Isada Nelson B. , Kazzi Nadya J. , Sargent Kate , Harrison Michael R. , Johnson Mark P. , Evans Mark I. 
Published: June 2005

AbstractBrachmann‐de Lange syndrome (BDLS) is a variable multiple congenital anomaly syndrome that occasionally includes congenital diaphragmatic hernia (CDH). CDH per se is commonly diagnosed antenatally and has been corrected with increasing success in utero and by neonatal repair with extracorporeal membrane oxygenation (ECMO). In utero repair requires normal karyotype as well as the absence of other lethal anomalies. Postnatal repair in combination with ECMO has resulted in improved neonatal outcome and has been recommended in all cases not having in utero repair. We describe a fetus diagnosed with a diaphragmatic hernia at 18 weeks of gestation in a woman whose only other pregnancy has been a 16 week abortus diagnosed with Fryns syndrome (FS). FS is a lethal, variable congenital anomaly syndrome that includes CDH, which is thought to contribute to the lethality of the syndrome. In utero repair was considered, but rejected because of the position of the liver and suspected FS. The Patients elected to carry the pregnancy to term. Postnatal repair with ECMO was considered; however, the infant died at several hours of age because of severe pulmonary hypoplasia, being considered ineligible for ECMO. The diagnosis of BDLS was made at autopsy and suggests that the first case may, in fact, have been BDLS. In spite of recent success in the repair of CDH both in et ex utero, CDH in association with BDLS is likely lethal, and women with fetuses diagnosed antenatally with CDH and BDLS should be counseled as such. © 1993 Wiley‐Liss, Inc.
Fetal biometry in the Brachmann‐de Lange syndrome
Authors: Kliewer Mark A. , Kahler Stephen G. , Hertzberg Barbara S. , Bowie James D. 
Published: June 2005

AbstractThe Brachmann‐de Lange syndrome (BDLS) is diagnosed in children on the basis of a distinctive clinical phenotype which includes retarded physical growth. Because there are no genetic or biochemical tests at present, the antenatal detection of the syndrome may depend upon identification of some aspect of the phenotype in the fetus using ultrasound imaging. We studied the growth of 23 subsequently diagnosed fetuses with the BDLS using standard biometric parameters defined by prenatal ultrasound imaging. Sonographic studies were obtained through a national parents' group, the Cornelia de Lange Syndrome Foundation. Assessment of fetal growth was made using four standardized measurements: the biparietal diameter, head circumference, femur length, and abdominal circumference. These values were compared to established tables of normal fetal growth and established rations of fetal body proportions. The cross‐sectional growth curve derived using all measurements collected as a composite group indicates that growth retardation would be first detected as early as 25 weeks. In five fetuses with measurements both before and after 25 weeks of gestation, longitudinal growth curves indicated that the diagnosis of “small for gestational age” would have been suggested between 20 and 25 weeks. The mean fetal weight estimates closely followed the fifth centile curve of normal fetuses both before and after 25 weeks. Cephalic indices in BDLS fetuses indicated either frank brachycephaly (25%), or were at the upper portion of the normal range. Femur lengths were relatively short (less than 90% of their expected length ) in 4 of the 11 fetuses where such information could be obtained. BDLS fetuses demonstrate early and symmetric intrauterine growth retardation. We conclude that fetal biometry can provide a valuable index in the assessment of a pregnancy suspected to be at risk for a severely affected BDLS child. © 1993 Wiley‐Liss, Inc.
Survey of speech and language skills with prognostic indicators in 116 patients with Cornelia de Lange syndrome
Authors: Goodban Marjorie T. 
Published: June 2005

AbstractSpeech and language evaluations of 116 patients, ages 2 months to 29 years, with Cornelia de Lange syndrome (CdLS), also known as Brachmann‐de Lange syndrome, were conducted to survey speech and language skills and to ascertain the prognostic value of related variables. These patients were evaluated at conferences of the CdLS Foundation. The data from these evaluations were then analyzed using the database program of Paradox 3.5. The findings indicated that 53% of the children who were 4 years or older combined 2 or more words into sentences and 33% had no words or only 1–2 words. Four percent were judged to have language skills within normal to low‐normal limits. Children who were not talking at all or who were severely delayed in language skills had at least one of the following characteristics: birth weight under 5 lbs.; a reported diagnosis of moderate‐to‐severe hearing impairment; upper limb malformations; poor abilities to related socially; and/or severe motor delays, e.g., they did not sit up until after age 25 months or did not walk until after 35 months. © 1993 Wiley‐Liss, Inc.
Lethal bone dysplasia in a fetus with manifestations of atelosteogenesis I and Boomerang dysplasia
Authors: Greally Marie T. , Jewett Tamison , Smith Wilbur L. , Penick George D. , Williamson Roger A. 
Published: June 2005

AbstractAtelosteogenesis I (AT‐I) and Boomerang dysplasia have been described as separate lethal bone dysplasias. The possibility of a common cause of both conditions was suggested by Hunter and Carpenter (Clin Genet 39(6): 471–480, 1991) in their report of a patient with apparent manifestations of both AT‐I and Boomerang dysplasia. We report on a male fetus of 31 weeks gestation whose clinical, radiologic and histologic findings are compared to reported cases of AT‐I, Boomerang dysplasia and the patient of Hunter and Carpenter (Clin Genet 39(6): 471–480, 1991). From the documentation of clinical and radiologic findings we demonstrate overlap of AT‐I and Boomerang dysplasia in our patient, and, from histologic examination, suggest a defect of cartilage and bone formation as the basic abnormality in this lethal bone dysplasia. © 1993 Wiley‐Liss, Inc.
Limb deficiencies, chorion villus sampling, and advanced maternal age
Authors: Halliday Jane , Lumley Judith , Sheffield Leslie J. , Lancaster Paul A. L. 
Published: June 2005

AbstractRecord linkage between a prenatal diagnosis register and a congenital malformation register in the state of Victoria, Australia, has enabled further evaluation of the suggested association between limb deficiencies and early chorion villus sampling (CVS). We found 3 anomalies in this category after later CVS (i.e., 9 weeks and beyond), but our data suggest that advanced maternal age may be a risk factor for both terminal and all limb deficiencies.The data from Victoria are tabulated with data obtained from other registers. Different birth prevalence figures are obtained by different registers, therefore limiting comparisons between registers. © 1993 Wiley‐Liss, Inc.
Najjar syndrome revisited
Authors: Thomas I. T. , Jewett T. , Lantz P. , Covitz W. , Garber P. , Berry M. N. 
Published: June 2005

AbstractWe describe 2 brothers with cardiomyopathy and hypergonadotropic hypogonadism and conclude that this is the first description of the Najjar syndrome in the United States. The inheritance may be autosomal recessive. © 1993 Wiley‐Liss, Inc.
Prenatal diagnosis and clinical findings in a case of hexasomy 12p
Authors: van Den Veyver Ignatia B. , Macha Michelle E. , McCaskill Christopher , Carpenter Robert J. , Shaffer Lisa G. 
Published: June 2005

AbstractWe report the first case of hexasomy 12p mosaicism due to 2 copies of an apparent i(12p) [46,XX/48,XX, +i(12p),+i(12p)] In every cell that contained the i(12p), 2 copies of the marker were found. The hexasomy was found in amniocytes (16%) and skin fibroblasts (95%) but not in peripheral blood lymphocytes. The chromosomal origin of the marker was confirmed with the use of in situ hybridization of alpha‐satellite specific for the centromere of chromosome 12. The present case was diagnosed following chromosome analysis for anomalies on ultrasound. The hexasomy 12p patient showed striking phenotypic similarities with severely affected tetrasomy 12p cases and died shortly after birth. We propose that the more severe presentation of this case is due to the 4 extra copies of 12p. © 1993 Wiley‐Liss, Inc.
Assocition between “plagiocephaly” and hemifacial microsomia
Authors: Padwa Bonnie L. , Bruneteau Richard J. , Mulliken John B. 
Published: June 2005

AbstractFifteen of 155 patients with hemifcial microsomia were noted to have frontal plagiocephaly. These patients were examined to determine whether the frontal flattening was either secondary to deformation, the result of unilateral coronal synostosis, or part of the spectrum of hemifacial microsomia. The patients were categorized as having deformational versus synostotic frontal plagiocephaly by documenting position of the supraorbital rims, nasal root, ears, malar eminences, chin point, and the palperbral fissure height. Other extracraniofacial anomalies were also noted. Fourteen of 15(93%) patients had characteristic deformational abnormalities. Only 1/15(7%) had an elevated orbit, suggestive of unilateral coronal synostosis, but theis diagnosis was not radiographically confirmed. Frontal deformational plagiocephaly was ipsilateral to the side predominantly affreted by hemifacial microsomia in all but on e patient. Patients with hemifacial microsomia‐deformational frontal plagiocephaly often had ipsilateral torticollis, cervical spine abnormalities, and anomalies outside the craniofacial region. This was in contrast to patients with deformational frontal plagiocephaly, in the absence of hemifacial microsomia, who frequently had ipsilateral torticollis but no other anomalies. This study also undrscores possible confusion in defferentiating hemifacial microsomia from deformaional hemifacial hypoplasia on physical exaination. The association of deformational frontal plagiocephaly and hemifacial microsomia belies a rigid etiologic label of deformational versus malformative anomaly. © 1993 Wiley‐Liss, Inc.
Prenatal testing in a fetus at risk for autosomal dominant polycystic kidney disese and autosomal recessive junctional epidermolysis bullosa with pyloric atresia
Authors: Turco Alberto E. , Peissel Bernard , Rossetti Sandro , Selicorni Angelo , Manoukian Siranoush , Brusasco Alberto , Tadini Gianluca , Galimberti Andrea , Tassis Beatrice , Turolla Licia , Tenconi Romano , Pignatti Pier Franco 
Published: June 2005

AbstractAmniocentesis and fetal skin biopsies were performed at 18 weeks of gestation in a fetus at risk autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive junctional epidermolysis bullosa (EBJ) with pyloric atresia. A previous son of the couple under investigation had disd at 3 months of EBJ. The mother of the propositus has ADPKD. Genetic linkage studies were carried out in 11 relatives (4 with ADPKD), and on fetal DNA obtained from cultured amniocytes, using 8 flanking DNA markers tightly linked to the PKD1 locus on chromosome 16p, and a DNA marker linked to another putative ADPKD locus on chromosome 2p. The linkage results indicated that the fetus had not inherited the ADPKD chromosome from the affected mother, with a diagnostic accuracy of >99%. Ultrastructural and immunohistochemical analyses of multiple fetal skin biopsies showed no EBJ‐associated abnormalities. Thus, combining recent morphological and molecular diagnostic methods, we could show that the fetus was free from both diseases. After 40 weeks of gestation, a normal male infant was delivered. © 1993 Wiley‐Liss, Inc.
Schizophrenia: Genetics and the maternal immune response to viral infection
Authors: Wright Padraig , Gill Michael , Murray Robin M. 
Published: June 2005

AbstractThirty years ago, Eliot Slater suggested that the reason schizophrenia was not progressively eliminated from the population was that the responsible gene also conveyed a compensatory advantage in terms of increased resistance to infection. If this selective advantage lies in the antibody response to certain viral infections, this could explain recent studies suggesting that exposure to influenza in the second trimester of gestation increases the risk of later schizophrenia. We propose that prenatal exposure to influenza induces maternal antibodies which then cross‐react with proteins in the developing foetal brain, becoming foetal autoantibodies. Thus an immunogenetic response by the mother results in aberrant foetal neurodevelopment, the biological substrate for a proportion of adult schizophrenia. Initial research strategies to test this hypothesis are proposed. © 1993 Wiley‐Liss, Inc.
Usefulness of twin studies for exploring the etiology of childhood and adolescent psychiatric disorders
Authors: LaBuda Michele C. , Gottesman I. I. , Pauls David L. 
Published: June 2005

AbstractIt is estimated that approximately 12% of the individuals under the age of 18 in the United States have a diagnosable mental illness [Institute of Medicine, 1989]; however, only a minority of the etiological research in psychopathology focuses on disorders with childhood onset. The present report demonstrates the usefulness of twin studies in exploring the etiology of childhood and adolescent psychiatric psychopathology and reviews the design, methodology, and results from traditional twin studies of various behavioral disorders. Alternative twin designs are also reviewed in an effort to address the future direction of twin studies in the area of childhood and adolescent psychopathology and to illustrate that twin data have much more to offer the field of psychopathology than merely an initial test to rule in or to rule out a significant genetic contribution to the development of such behaviors. © 1993 Wiley‐Liss, Inc.
Association study of schizophrenia with dopamine D3 receptor gene polymorphisms: Probable effects of family history of schizophrenia?
Authors: Nimgaonkar V. L. , Zhang X. R. , Caldwell J. G. , Ganguli R. , Chakravarti A. 
Published: June 2005

AbstractUsing a case‐control design, a reported association of schizophrenia with homozygosity at the dopamine D3 receptor gene locus was investigated in a group of patients (n = 53), with schizophrenia (DSM‐III‐R), and psychiatrically normal controls (n = 61), matched for ethnicity and area of residence. No significant differences in the distribution of alleles or genotypes between the two groups could be deteched. However, among patients with a family history of schizophrenia, as compared to controls without such family history, an association with allele 1 at this locus was noted (Odds ratio 12.4, C.I. 1.61, 96.35). © 1993 Wiley‐Liss, Inc.