bluuebunny/crossref_metadata_2025_split huggingface dataset:
Neurofibromatosis 2 (NF2): Clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity
Authors: Parry Dilys M. , Eldridge Roswell , Kaiser‐Kupfer Muriel I. , Bouzas Evrydiki A. , Pikus Anita , Patronas Nicholas 
Published: June 2005

AbstractTo determine the spectrum of manifestations in neurofibromatosis 2 (NF2) and to assess possible heterogeneity, we evaluated 63 affected individuals from 32 families. Work‐up included skin and neurologic examinations, audiometry, a complete ophthalmology examination with slit‐lamp biomicroscopy of the lens and fundus, and gadolinium‐enhanced MRI of the brain and, in some, of the spine. Mean age‐at‐onset in 58 individuals was 20.3 years; initial symptoms resulted from vestibular schwannomas (44.4%), other CNS tumors (22.2%), skin tumors (12.7%), and ocular manifestations including cataracts and retinal hamartomas (12.7%). Five asymptomatic individuals were diagnosed through screening. Vestibular schwannomas were documented in 62 individuals (98.4%); other findings included cataracts (81.0%), skin tumors (67.7%), spinal tumors (67.4%), and meningiomas (49.2%). Usually, clinical manifestations and course were similar within families but differed among families. To assess possible heterogeneity, we assigned affected individuals to three proposed subtypes (representing mild, intermediate, and severe NF2) based on age‐at‐onset, presence or absence of CNS tumors other than vestibular schwannomas, and presence or absence of retinal hamartomas. Comparisons among the three subtypes for many clinical parameters demonstrated that patients in the mild subtype differed from those in the other two subtypes for most parameters, but that none of the parameters distinguished patients in the intermediate subtype from those in the severe subtype. Thus, there are likely two rather than three subtypes of NF2. Classification of patients to subtype may aid in counseling about long‐term prognosis and in formulating individualized guidelines for medical surveillance. © 1994 Wiley‐Liss, Inc.This article is a U.S. Government work and, as such, is in the public domain in the United States of America
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Hypoparathyroidism as the major manifestation in two patients with 22q11 deletions
Authors: Scirè Giuseppe , Dallapiccola Bruno , Iannetti Paola , Bonaiuto Francesco , Galasso Cinzia , Mingarelli Rita , Boscherini Brunetto 
Published: June 2005

AbstractWe report on two adolescents with 22q11 deletion. Their main clinical manifestation was chronic symptomatic hypocalcemia secondary to hypoparathyroidism, together with seizures and cerebral calcifications. Neither congenital cardiac abnormality nor T cell deficiency were detected. The pheno‐typic manifestations of the observed patients were consistent with velo‐cardio‐facial syndrome (VCFS).A microdeletion of chromosome region 22q11 has been demonstrated in approximately 90% of DiGeorge syndrome (DGS) patients and in 75% of VCFS patients; the association of the deletion with a wide spectrum of clinical findings suggests the existence of a contiguous gene syndrome.The presence of certain traits of DGS/VCFS should lead to investigations of the parathyroid function and molecular analysis of the 22q11 region hybridization studies. © 1994 Wiley‐Liss, Inc.
Monozygotic twins discordant for spondylocostal dysostosis
Authors: Van Thienen Marie‐Noëlle , Van der Auwera Bart J. 
Published: June 2005

AbstractSpondylocostal dysostosis (SCD) is a rare skeletal dysplasia with clinical and radiological manifestations, consisting of short neck and trunk, barrel‐shaped chest, protuberant abdomen, scoliosis and abnormalities of vertebral segmentation and of the ribs. Both autosomal recessive and autosomal dominant inheritance have been described. We report on monozygotic twins discordant for the syndrome, either due to a post‐zygotic mutation or development of a phenocopy. To our best knowledge, this is the fourth report of SCD in identical twins, and the first one of discordance in monozygotic twins. © 1994 Wiley‐Liss, Inc.
On the inheritance of the split hand/split foot malformation
Authors: Zlotogora Joël 
Published: June 2005

AbstractAnalysis of families with non‐syndromal split hand/split foot (SHSF) confirms the existence of 2 distinct entities, most probably caused by at least 2 different autosomal dominant genes. In the families in which the SHSF malformation is non‐syndromal and limited to the hands and feet (type I), the pattern of inheritance is of a regular autosomal dominant gene with a high penetrance (96%). In families in which at least one individual has other limb malformations and SHSF (type II), the transmission is often unusual. In most families, the gene is non‐penetrant, sometimes for generations, before the birth of the first affected individual. Thereafter, among the descendants of affected individuals, the penetrance is reduced (66%), suggesting the possible existence of another gene which controls the appearance of the clinical manifestations. The possibility that SHSF associated with other limb malformations is a disorder caused by trinucleotide repeat instability is raised. © 1994 Wiley‐Liss, Inc.
Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation
Authors: Gustashaw Karen M. , Zurcher Vickie , Dickerman Lois H. , Stallard Richard , Willard Huntington F. 
Published: June 2005

AbstractA 5‐month‐old girl with mild phenotypic abnormalities, developmental delay, and seizures was found to have the de novo kary‐otype 46,XX,−13,+der(13)t(X;13)(p21.2;p11.1). The partial trisomy of Xp21.2 → pter was confirmed with fluorescence in situ hybridization, using an X chromosome painting probe and several cosmid and YAC probes for Xp sequences. Replication banding showed that one of the structurally normal X chromosomes was late‐replicating, but that the Xp segment of the der(13) was early‐replicating in all cells examined. Since segments of the X chromosome separated from the X inactivation center in Xql3.2 cannot undergo X inactivation, the result is functional disomy of distal Xp. As the loss of short arm material from chromosome 13 is not considered to be clinically significant, the genomic imbalance of Xp expressed in this patient most likely accounts for her abnormal phenotype. © 1994 Wiley‐Liss, Inc.
Holoprosencephaly associated with caudal dysgenesis: A clinical‐epidemiological analysis
Authors: Martínez‐Frías María Luisa , Bermejo Eva , García Angel , Galín Enrique , Prieto Luis 
Published: June 2005

AbstractWe have studied 9 cases with the combination of some form of holoprosencephaly and any degree of caudal dysgenesis. The cases were identified through the Spanish Collaborative Study of Congenital Malformations (ECEMC). Of the 9 cases, 6 infants had an aneuploidy syndrome, one had Meckel syndrome, and 2 cases were of unknown etiology. We determined that the prevalence figure for the association of both conditions in the same child was 0.08 per 10,000 livebirths, and 18.8 times higher for stillbirths (i.e., 1.50/10,000). This prevalence is significantly higher than what would be expected by Chance. © 1994 Wiley‐Liss, Inc.
Hypertrichosis “cubiti” with facial asymmetry
Authors: Edwards Matthew J. , Crawford Anthony E. , Jammu Vapinder , Wise Graham 
Published: June 2005

AbstractHypertrichosis of the elbow region may be the only abnormality in hypertrichosis cubiti (hairy elbow syndrome). Only 6 cases have been reported; 2 Amish sibs also had additional short stature and, in the most recent case report, a patient had asymmetry of the face, generalized hypotonia, ptosis, epicanthic folds, highly arched palate, and delayed growth and development. The child reported here also had asymmetry of facial growth, ptosis, delayed speech development, and hypertrichosis in a patchy distribution which included the elbow regions, face, trunk, and thighs. There was no family history of hypertrichosis, and the karyotype of cultured fibroblasts was normal in the skin of an area of hypertrichosis. These patients appear to have a distinct condition compared to other hypertrichosis syndromes. © 1994 Wiley‐Liss, Inc.
Second locus for Hirschsprung disease/Waardenburg syndrome in a large Mennonite kindred
Authors: Dow Eleanor , Cross Sean , Wolgemuth Debra J. , Lyonnet Stanislas , Mulligan Lois M. , Mascari Maria , Ladda Roger , Williamson Robert 
Published: June 2005

AbstractWe have studied a large Mennonite kindred in which 20 members were affected with Hirschsprung disease (HSCR), 5 of whom had one or more manifestations of Waardenburg syndrome (WS) type II (WS2). Eleven additional relatives had signs of WS2 without HSCR. Since HSCR and WS2 each represent perturbations of neural crest migration/differentiation, this large pedigree with apparent cosegregation of HSCR and WS2 offered an opportunity to search for linkage between these loci, candidate genes, and random DNA markers, particularly in view of recent discoveries of genes for Waardenburg syndrome type I (WS1) and Hirsch‐sprung disease (c‐ret). We have examined the following possible linked markers in 69 relatives in this family: the c‐ret gene (HSCR); the human PAX3 gene (HuP2) on chromosome 2q (WS1) and placental alkaline phosphatase (ALPP) on chromosome 2q (linked to WS1); argininosuccinate synthetase (ASS) on chromosome 9q, close to ABO blood groups which have shown weak linkage to WS; and the β1 GABA receptor gene (GABARB1) on chromosome 4q13‐ll, close to c‐kit, deletions of which cause piebaldism. Linkage between any of these loci and HSCR/WS in this kindred was excluded, demonstrating that there is at least one further locus for HSCR other than c‐ret. © 1994 Wiley‐Liss, Inc.
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): A clue to the pathogenesis of oncocytic cardiomyopathy?
Authors: Bird Lynne M. , Krous Henry F. , Eichenfield Lawrence F. , Swalwell Christopher I. , Jones Marilyn C. 
Published: June 2005

AbstractA infant girl had red stellate skin lesions on the cheeks and neck, and mildly short palpebral fissures. Her skin abnormality was typical of microphthalmia with linear skin defects (MLS), a newly recognized syndrome consisting of congenital linear skin defects and ocular abnormalities in females monosomic for Xp22. She died suddenly and unexpectedly at age 4 months; the cause of death was ascribed to oncocytic cardiomyopathy. Oncocytic cardiomyopathy occurs only in young children, who present with refractory arrhythmias leading to cardiac arrest. The coexistence of two rare conditions, one of which is mapped to the X chromosome, and an excess of affected females with oncocytic cardiomyopathy, make it likely that oncocytic cardiomyopathy is also X‐linked, with Xp22 being a candidate region. Overlapping manifestations in the two conditions (ocular abnormalities in cases of oncocytic cardiomyopathy and arrhythmias in MLS) offer additional support for this hypothesis. © 1994 Wiley‐Liss, Inc.
Ectodermal dysplasias: A clinical classification and a causal review
Authors: Pinheiro Marta , Freire‐Maia Newton 
Published: June 2005

AbstractWe present a causal review of 154 ectodermal dysplasias (EDs) as classified into 11 clinical subgroups. The number of EDs in each subgroup varies from one to 43. The numbers of conditions due to autosomal dominant, autosomal recessive, and X‐linked genes are, respectively, 41, 52, and 8. In 53 conditions cause is unknown; 35 of them present some causal (genetic) suggestion. © 1994 Wiley‐Liss, Inc.
De novo 17q paracentric inversion mosaicism in a patient with Beemer‐Langer type short rib‐polydactyly syndrome with special consideration to the classification of short rib polydactyly syndromes
Authors: Chen Harold , Mirkin David , Yang Samuel 
Published: June 2005

AbstractA de novo 17q paracentric inversion mosaicism is detected in a fetus with type IV short rib (polydactyly) syndrome (Beemer‐Langer). The cytogenetic finding in our case suggests a possible location of the gene or cluster of linked genes responsible for SR (P) S type IV to 17q21 or 17q23. Since this chromosome abnormality has not been described in short rib polydactyly syndromes and the existence of type IV SR (P) S has been controversial, the literature of this entity is reviewed with special consideration to the classification of short rib polydactyly syndromes. © 1994 Wiley‐Liss, Inc.
Polydactyly in a carrier of the gene for the meckel syndrome
Authors: Nelson John , Nevin Norman C. , Hanna E. Jennifer 
Published: June 2005

AbstractMuch of the Meckel syndrome literature has been concerned with the criteria for diagnosis but little has been said concerning heterozygote expression. We describe 3 affected brothers whose father and his paternal first cousin had postaxial polydactyly of both feet. A review of the literature was undertaken with regard to possible manifesting heterozygotes. We conclude that it is important to examine the relatives of patients with the Meckel syndrome for mild abnormalities, as these may be evidence of a manifesting heterozygote. Such information may be useful for genetic counselling. © 1994 Wiley‐Liss, Inc.
Distinguishing genetic disease and genetic susceptibility
Authors: Wachbroit Robert S. 
Published: June 2005

AbstractWith the increasing awareness of the involvement of genetic factors in disease, questions arise as to what distinguishes genetic from non‐genetic disease, and what constitutes a genetic susceptibility. A general framework, reflecting the structure of biological explanations, is presented in which such distinctions can be made. We conclude that such distinctions are objective and are based on the biological facts; they are not “social constructions” nor do they presuppose resolution of philosophical problems regarding causation. © 1994 Wiley‐Liss, Inc.
Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy
Authors: Yoshioka Mieko , Kuroki Shigekazu 
Published: June 2005

AbstractThe association of congenital muscular dystrophy (CMD) with type II lissencephaly and ocular anomalies is found in Fukuyama CMD (FCMD), the Walker‐Warburg syndrome (WWS), and muscle‐eye‐brain disease (MEBD). The classification of these disorders remains controversial. Between 1972 and 1992, we performed clinical and genetic studies in 41 families of FCMD, which is particularly frequent in Japan. Nine families (22%) had multiple affected children (“familial” FCMD). The other 32 families had only one affected child (“sporadic” FCMD). Parental consanguinity was documented in 5 sporadic FCMD families and in none of the familial cases. In total, 48 patients, including 7 sib pairs, were evaluated with regard to maximum motor ability, mental and convulsion states, cranial CT or MRI findings, and EEG and ophthalmological data. A difference between the sibs in motor ability was apparent in 4 families. Mental status also showed wide variation. Two of 7 sib pairs differed in EEG findings. The familial FCMD patients showed relatively more severe motor disability than that in the sporadic FCMD patients, while in mental and convulsion states no significant difference was found in both groups. Interestingly, in one family hydrocephalus was found in only one of the sibs. In addition, this patient showed encephalocele and retinal detachment at birth. Based on these observations, we consider the clinical spectrum of FCMD to be much broader than previously described and to overlap with that of “mild” WWS and of MEBD. © 1994 Wiley‐Liss, Inc.
Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2
Authors: Matsuoka Rumiko , Takao Atsuyoshi , Kimura Misa , Imamura Shin‐ichiro , Kondo Chisato , Joh‐o Kunitaka , Ikeda Kazuo , Nishibatake Makoto , Ando Masahiko , Momma Kazuo 
Published: June 2005

AbstractThe so‐called “conotruncal anomaly face syndrome” (CTAFS) is characterized by a peculiar facial appearance associated with congenital heart disease (CHD), especially cardiac outflow tract defects such as tetralogy of Fallot (TOF), double outlet right ventricle (DORV), and truncus arteriosus (TAG). CTAFS and the DiGeorge anomaly (DGA) have many similar phenotypic characteristics, suggesting that they share a common cause. In many cases DGA is known to be associated with monosomy for a region of chromosome 22q11.2. Fifty CTAFS patients and 10 DGA patients, 11 parents couples and 10 mothers of CTAFS patients, and 3 parents couples and 2 mothers of DGA patients were examined by fluorescent in situ hybridization (FISH) using the N25 (D22S75) DGCR probe (Oncor). Monosomy for a region of 22q11.2 was found in 42 CTAFS, 9 DGA, 4 mothers, and 1 father who had CTAF without CHD. The remaining 8 CTAFS patients, 1 DGA patient and 1 mother who had questionable CTAF without CHD, showed no such chromosome abnormality. For the control, 60 patients who had CHD without CTAF or other know malformation syndromes were examined and had no deletion of 22q11.2. Therefore, we conclude that CTAFS is a part of the CATCH 22 syndrome; cardiac defects, abnormal faces, thymic hypoplasia, cleft palate, and hypocalcemia (CATCH) resulting from 22q11.2 deletions. © 1994 Wiley‐Liss, Inc.
Aplasia cutis congenita with epibulbar dermoids: Further evidence for syndromic identity of the ocular ectodermal syndrome
Authors: Gardner Jessica , Viljoen Denis 
Published: June 2005

AbstractWe have investigated 2 young South African girls with aplasia cutis congenita, epibulbar dermoids, and strabismus. This unique association of anomalies was first documented in two unrelated boys by Toriello et al. [1993: Am. J. Med. Genet. 45:764–766]. Our clinical and histological findings are markedly similar, and we think this to be the second report of individuals with this rare syndrome. © 1994 Wiley‐Liss, Inc.
Oculo‐ectodermal syndrome: A new case
Authors: Evers Mirjam E. J. W. , Dijkman‐Neerincx Regina H. M. , Hamel Ben C. J. 
Published: June 2005

AbstractWe report on a girl with aplasia cutis congenita, epibulbar dermoids, and macrocephaly. To our opinion she has the same ocular‐ectodermal syndrome as described by Toriello et al. [Am J Med Genet 45: 764–766, 1993]. © 1994 Wiley‐Liss, Inc.
Screening the dystrophin gene suggests a high rate of polymorphism in general but no exonic deletions in schizophrenics
Authors: Lindor Noralane M. , Sobell Janet L. , Heston Leonard L. , Thibodeau Stephen N. , Sommer Steve S. 
Published: June 2005

AbstractThe dystrophin gene, located at chromosome Xp21, was evaluated as a candidate gene in chronic schizophrenia in response to the report of a large family in which schizophrenia cosegregated with Becker muscular dystrophy [Zatz et aI., 1991: Am J Hum Genet 49: A364; 1992: J Med Genet 30(2):131–134]. Genomic DNA from 94 men with chronic schizophrenia was evaluated by Southern blot analysis using cDNA probes that span exons 1–59. No exonic deletions were identified. An unexpectedly high rate of polymorphism was calculated in this study and two novel polymorphisms were found, demonstrating the usefulness of the candidate gene approach even when results of the original study are negative. © 1994 Wiley‐Liss, Inc.
Bipolar disorder and the pseudoautosomal region: An association study
Authors: Parsian Abbas , Todd Richard D. 
Published: June 2005

AbstractFrom family, adoption, and twin studies it is clear that genetic factors play an important role in the etiology of bipolar disorder (McGuffin and Katz: The Biology of Depression, Gaskell, London, 1986). Recently Yoneda et al. (Am J Hum Genet 51:1172–1173, 1992) reported an association between an allele (A4) of a VNTR marker (DXYS20) for the pseudoautosomal region and bipolar disorder in a Japanese population. In order to test for this association in a Caucasian population, we have typed a sample of 52 subjects with bipolar disorder and 61 normal controls. The bipolar subjects are probands of multiple incidence families. The normal controls are an epidemiologically ascertained sample of middle‐aged, unrelated individuals. The two groups were matched for sex and ethnic background. There were no significant differences in the allele or genotype frequencies of DXYS20 between the two groups. In particular, there was no significant difference in the frequency of the A4 allele in normal controls and bipolar patients (0.377 vs. 0.317, respectively). The prevalence of the A4 allele in bipolar patients and normal controls was 0.567 and 0.622, respectively. We were not able to replicate the results of the Yoneda et al. (1992) study. © 1994 Wiley‐Liss, Inc.
Genetics of autism: Characteristics of affected and unaffected children from 37 multiplex families
Authors: Spiker Donna , Lotspeich Linda , Kraemer Helena C. , Hallmayer Joachim , McMahon William , Petersen P. Brent , Nicholas Peter , Pingree Carmen , Wiese‐Slater Susan , Chiotti Carla , Lee Wong Dona , Dimicelli Susan , Ritvo Edward , Cavalli‐Sforza Luigi L. , Ciaranello Roland D. 
Published: June 2005

AbstractEvidence from twin and family studies strongly suggests that genetic factors play a prominent role in the etiology of some cases of infantile autism. Genetic factors would be expected to be especially strong in families with multiple autistic members (multiplex families). This report describes the identification and evaluation of 44 families with two or more autistic children collected as part of a genetic linkage study in autism. Families were referred with a presumptive classification of multiplex autism. Children referred as autistic, as well as their presumptively normal siblings, were assessed using the Autism Diagnostic Interview (ADI) and the Autism Diagnostic Observation Scale (ADOS). Thirty‐seven of the 44 families (87%) had at least two children who met diagnostic criteria for autism on the ADI. Of the total group of 117 children evaluated in those families, 83 (71%) met all ADI criteria and could be unambiguously classified as autistic (affected), 26 (22%) met none of the ADI criteria and were classified as not autistic (unaffected), and 8 (7%) were classified as uncertain because they met one or more but not all of the ADI cutpoints. Autistic siblings were not significantly concordant for most autism characteristics, for IQ, or for verbal ability. Significant concordances were found, however, for behaviors related to rituals and repetitive play, and for social impairments in the expression and understanding of facial expressions of emotion. The results of this study suggests two major points: first, there does not appear to be a highly variable autistic phenotype expressed in multiplex families; in the vast majority of cases, children are either clearly affected or clearly unaffected, so that linkage analysis should not be complicated by a large number of ambiguous or uncertain cases. Second, multiplex families do not appear to associate into subgroups defined by clustering of specific autism behaviors. © 1994 Wiley‐Liss, Inc.