bluuebunny/crossref_metadata_2025_split huggingface dataset:
Terminal transverse limb defects associated with familial cavernous angiomatosis
Authors: Filling‐Katz Michele R. , Levin Sondra W. , Patronas Nicholas J. , Katz Norman N. K. 
Published: June 2005

AbstractTerminal transverse limb defects rarely are reported as familial. Multiple pathogenetic mechanisms, including vascular disruption, have been proposed to account for these defects. We report on a family followed over the past 6 years known to have familial cavernous angiomatosis in which 2 relatives have similar terminal transverse defects at the mid‐forearm. Multiple relatives have had episodic bleeding from intracranial cavernous angiomas, a distinct finding in this disorder. Other findings in this family include retinal cavernous angiomas (2 patients), a high incidence of skin angiomas (12 patients), cavernous angiomas of the soft tissue (2 patients), and a hepatic angioma (one patient). One of the 2 individuals with the limb defect was evaluated extensively. Magnetic resonance imaging of the forearm with the terminal transverse defect using gadolinium‐DTPA enhancement showed abrupt termination of all structures distal to the normal radial and ulnar heads. We propose that familial cavernous angiomatosis may be a new cause of vascular disruption resulting in terminal transverse limb defects.
Gelsolin gene mutation—at codon 187—in familial amyloidosis, Finnish: DNA‐diagnostic assay
Authors: Haltia Matti , Levy Efrat , Meretoja Jouko , Fernandez‐Madrid Ivan , Koivunen Olli , Frangione Blas 
Published: June 2005

AbstractFamilial amyloidosis, Finnish (FAF), is an autosomal dominant form of systemic amyloidosis with lattice corneal dystrophy and progressive cranial neuropathy as principal clinical manifestations. We have shown that the novel amyloid fibril protein found in these patients is an internal degradation fragment of gelsolin, an actin‐binding protein, and that it contains an amino acid substitution, asparagine for aspartic acid at position 15, that is due to a guanine‐to‐adenine transversion corresponding to codon 187 of human plasma gelsolin cDNA. To test that this mutation cosegregates with the disease high‐molecular‐weight genomic DNA was isolated from autopsied tissues or lymphocytes of 23 patients, 6 healthy relatives and 20 unrelated healthy control persons. Specific fragments were amplified with the polymerase chain reaction for oligonucleotide hybridization analysis using the slot‐blot technique. The guanine‐to‐adenine transversion was found in all FAF patients tested, but in none of the control subjects. Our results show that the mutation (G to A) cosegregates with the disease phenotype, and that the slot‐blot analysis can be used as a diagnostic assay, including prenatal evaluation.
Cystic fibrosis mutations in French Canadians: Three CFTR mutations are relatively frequent in a Quebec population with an elevated incidence of cystic fibrosis
Authors: Rozen Rima , De Braekeleer Marc , Daigneault Jocelyne , Ferreira‐Rajabi Leonor , Gerdes Maria , Lamoureux Linda , Aubin Gervais , Simard Fernand , Fujiwara T. Mary , Morgan Kenneth 
Published: June 2005

AbstractThe French‐Canadian population in the Saguenay‐Lac St. Jean region of northeastern Quebec has an elevated frequency of cystic fibrosis (CF). The average incidence of cystic fibrosis was 1 in 891 births and the prevalence of CF carriers was estimated to be 1 in 15. We tested for 10 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 133 French‐Canadian CF families from Quebec. Ninety‐one families were from the Saguenay‐Lac St. Jean region and 42 families were referred from other regions of Quebec. We detected the CFTR mutation in 93 and 92% of the CF chromosomes in the Saguenay‐Lac St. Jean and the major‐urban Quebec families, respectively. The two groups of French‐Canadian families were significantly different for the proportions of CFTR mutations. The three most common mutations in the Saguenay‐Lac St. Jean families were ΔF508 (58%), 621 + 1G → T (23%), and A455E (8%); and in the major‐urban Quebec families were ΔF508 (71%), 711 + 1G → T (9%), and 621 + 1G → T (5%). These results provide evidence for the role of founder effect in the elevated incidence of cystic fibrosis in the Saguenay‐Lac St. Jean population.
Baller‐Gerold syndrome: Case report and clinical and radiological review
Authors: Dallapiccola Bruno , Zelante Leopoldo , Mingarelli Rita , Pellegrino Michele , Bertozzi Vincenzo 
Published: June 2005

AbstractThe major manifestations of the Baller‐Gerold syndrome (BGS) are craniosynostosis and preaxial limb anomaly involving the radius and/or the thumb. We report on a new patient with coronal and sagittal suture involvement, mild unilateral radial and thumb hypoplasia, imperforate anus, rectovaginal fistula, prenatal onset growth deficiency, and mental retardation. This patient also had some minor oralfacial anomalies, severe nonfamilial myopia, bilateral conductive hearing loss, ureteric reflux, and skeletal anomalies other than those noted in the skull and upper limbs. This patient confirms the clinical variability among the patients and the wide pleiotropic effects of the BGS gene.
Ankyloblepharon filiforme adnatum
Authors: Weiss Avery H. , Riscile Gisele , Kousseff Boris G. 
Published: June 2005

AbstractWe treated 4 infants with ankyloblepharon filiforme adnatum (AFA), an uncommon anomaly in which the apposing eyelid margins are connected by abnormal tissue strands. One infant had AFA alone, one had Hay–Wells syndrome, characterized by ectodermal dysplasia, and the other 2 had chromosome abnormalities, trisomy 18, and complex chromosome rearrangement, with visceral malformations. Despite heterogeneity and phenotypic variability, these developmental abnormalities shared (1) involvement of tissues growing in apposition and (2) temporal overlap of their occurrence. This suggests a common defect in the mechanism(s) that regulate tissue fusion at multiple sites during development.
New case of Toriello‐Carey syndrome
Authors: Lacombe Didier , Creusot Gérard , Battin Jacques 
Published: June 2005

AbstractA new syndrome was identified by Toriello and Carey (Am J Med Genet 31:17–23, 1988), based on the description of four children, three of whom were sibs. The main manifestations included agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, retrognathia, abnormal ears, laryngeal and cardiac anomalies, brachydactyly, and hypotonia. We describe findings in a patient, presumed to be another case of the Toriello‐Carey syndrome, which extend the phenotype of the syndrome.
Gastroesophageal dysfunction in Brachmann–de Lange syndrome
Authors: Rosenbach Y. , Zahavi I. , Dinari G. 
Published: June 2005

AbstractTwo children with the Brachmann–de Lange syndrome and severe gastroesophageal reflux are described. Both had esophagitis, recurrent severe anemia, and one had recurrent episodes of aspiration pneumonia and clubbing. Medical treatment failed in both children. One child responded dramatically to surgery, but the other died before surgery could be attempted.Our experience and a review of the literature suggest that early recognition and surgical treatment of gastroesophageal reflux will reduce morbidity and mortality in children with this syndrome.
Comparison of couples referred and not referred for genetic counseling in a genetic clinic after the birth of a child with a congenital anomaly: A study in a population in the northeastern Netherlands
Authors: Cornel Martina C. , van Essen Anthonie J. , ten Kate Leo P. 
Published: June 2005

AbstractAfter the birth of a child with a congenital anomaly, parents have many questions about cause, prognosis, and recurrence risk. An important means of transmitting such information is referral to a genetic clinic. We were interested in knowing what determines whether or not parents are referred for genetic counseling. Data from the local registration of congenital anomalies in the northeastern Netherlands (birth years 1981–1986; 1,217 children/fetuses) and data of the local genetic clinic were compared. The parents of 204 cases (16.8%) had been referred for genetic counseling. Of the couples referred, 76% were referred within one year after birth, usually by a pediatrician (48%). Parents of children with a single anomaly, recognized syndrome, or multiple anomalies not recognized as a syndrome were referred in 5%, 43%, and 26% of cases, respectively. Parents of liveborn children who died were referred in 38% of cases, parents of liveborn/still‐alive and stillborn children in 13% and 22%, respectively. Previous affected sibs and absence of previous livebirths increased the likelihood of referral.
Preaxial polydactyly of feet in infants of diabetic mothers: Epidemiological test of a clinical hypothesis
Authors: Martínez‐Frías María Luisa , Bermejo Eva , Cereijo Ana 
Published: June 2005

AbstractUsing data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), we tested the hypothesis of Carey et al. (Proc Greenwood Genet Cent 9:95), (1990) on maternal diabetes and preaxial polydactyly of feet in infants born to diabetic mothers. Our results seem to confirm their suggestion, although the hallucal type of preaxial polydactyly that they described seems to be much less frequent. Nevertheless, a high risk exists (OR = 24.60, P = 0.0004) for preaxial polydactyly of the feet in relation with other types of birth defects or postaxial polydactyly. This analysis shows the importance of clinical observations for epidemiologists, because such observations constitute hypotheses and provide actual issues for study, and clinicians will get epidemiological confirmation for their individual observations and hypotheses.
Psoriasis vulgaris, fetal growth, and genomic imprinting
Authors: Traupe Heiko , van Gurp Petra J. M. , Happle Rudolf , Boezeman Jan , van de Kerkhof Peter C. M. 
Published: June 2005

AbstractWe report on 2 independent lines of evidence suggesting genomic imprinting of a major gene for psoriasis vulgaris. First, the birth weight of children from psoriatics is influenced by the sex of the psoriatic parent. Children from fathers with psoriasis are considerably (270 g) heavier than children from mothers with psoriasis (P<0.004). Second, the disease manifestation (penetrance) depends in part on the sex of the psoriatic parent. Offspring from fathers with psoriasis and male “gene carriers” are significantly (P<0.015 and P<0.007) more often affected than offspring from mothers with psoriasis and female “gene carriers.” Of 91 grandchildren with psoriasis 59 (65%) have an affected grandfather and 32 (35%) a psoriatic grandmother. This deviation from the expected distribution is significant (P<0.04). Genomic imprinting is considered a special case of epigenetic modification. We propose that epigenetic modification. of a major predisposing gene in somatic tissues could cause differences in disease activity of psoriasis and could account for the often unpredictable clinical course the disease takes.
Birth prevalence study of the apert syndrome
Authors: Cohen M. Michael , Kreiborg Sven , Lammer Edward J. , Cordero José F. , Mastroiacovo Pierpaolo , Erickson J. David , Roeper Peter , Martínez‐Frías Maria Luisa 
Published: June 2005

AbstractEstimates of the Apert syndrome birth prevalence and the mutation rate are reported for Washington State, Nebraska, Denmark, Italy, Spain, Atlanta, and Northern California. Data were pooled to increase the number of Apert births (n = 57) and produce a more stable birth prevalence estimate. Birth prevalence of the Apert syndrome was calculated to be approximately 15.5/1, 000,000 births, which is twice the rate determined in earlier studies. The major reason appears to be incomplete ascertainment in the earlier studies. The similarity of the point estimates and the narrow bounds of the confidence limits in the present study suggest that the birth prevalence of the Apert syndrome over different populations is fairly uniform. The mutation rate was calculated to be 7.8×10−6 per gene per generation. Apert syndrome accounts for about 4.5% of all cases of craniosynostosis. The mortality rate appears to be increased compared to that experienced in the general population; however, further study of the problem is necessary.
del(18p) syndrome with complex tetralogy of fallot in an infant with 45,X,t(Y;18)(q12;q11.2)
Authors: Kalla S. El , Mathews A. R. , Menon N. S. 
Published: June 2005

AbstractWe report on an infant with multiple congenital anomalies, tetralogy of Fallot, and Karyotype 45,X,t(Y;18)(q12;11.2). The infant's anomalies are consistent with a del(18p) syndrome, except for the exceptional severity of the heart defect.
Glycogen storage disease type III with muscle involvement: Reappraisal of phenotypic variability and prognosis
Authors: Momoi Toru , Sano Hirohiko , Yamanaka Chutaro , Sasaki Hiroshi , Mikawa Haruki 
Published: June 2005

AbstractA review of the case histories of 19 Japanese patients with enzymatically proven glycogen storage disease (GSD) III who developed muscular symptoms at various ages illustrates the phenotypic variability of this disease. There seem to be 4 subgroups of GSD III with muscle involvement according to the clinical symptoms. The first group of patients is characterized by the childhood onset of muscle weakness and hepatic disorders. The second group of patients develops muscular symptoms in adult years while the liver symptoms start in childhood. The third group includes the patients whose muscle weakness started in adult years long after liver symptoms in childhood had disappeared. The fourth group shows only muscular symptoms as adults without any sign or history of liver dysfunction since childhood. The prognosis for each subgroup seems to be different; however, none of them appears to be better than that for GSD I, as has been suggested previously.
Congenital absence of the vas deferens: Recurrence in a family
Authors: Martin Rick A. , Jones Kenneth Lyons , Downey Earl C. 
Published: June 2005

AbstractWe report on 2 brothers with congenital absence of the vas deferens discovered in childhood during inguinal hernia repairs. The vas is absent unilaterally in one sib and bilaterally in the other. The unusual presentation of inguinal hernias in these children is discussed as well as mechanisms of inheritance and associated risk of renal anomalies.
Charcot‐marie‐tooth neuropathy related to chromosome 1
Authors: Ionasescu Victor V. , Trofatter James , Haines Jonathan L. , Ionasescu Rebecca , Searby Charles 
Published: June 2005

AbstractOne family with documented male‐to‐male transmission of Charcot‐Marie‐Tooth (CMT) neuropathy was studied clinically and by genetic linkage. Patients had progressive distal weakness and atrophy, areflexia, and distal sensory loss, but early onset (before age 3 years) in all 5 cases, and phrenic nerve involvement in the propositus (a 39‐year‐old woman) requiring CPAP ventilator support during the night. Motor‐nerve conduction velocities (MNCVs) were significantly slow, consistent with severe demyelinating neuropathy. Electromyography (EMG) data were normal. Two‐point and multipoint linkage analyses strongly suggested the presence of a CMT gene on chromosome 1q. A maximum multipoint lod score of 2.70 was obtained at MUCI (θ = 0), with the locus order centromere‐MUC1‐SPTA1‐FcγRII‐AT3‐telomere. Multipoint linkage analysis excluded the CMT locus from chromosome 17 markers in this family.
High frequency of congenital adrenal hyperplasia (classic 11β‐hydroxylase deficiency) among Jews from Morocco
Authors: Rösler Ariel , Leiberman Esther , Cohen Tirza 
Published: June 2005

AbstractSteroid 11β‐hydroxylase deficiency is relatively frequent in Israel among North African Jews. Over a 39‐year period, 38 affected individuals from 25 families were diagnosed. Nineteen families came from Morocco, and in another 2, one parent came from Morocco (80% of all parents). Demographic studies showed that most of their grandparents were born in the region of the Atlas Mountains. In Israel, the overall incidence of the disorder is estimated between 1 in 30,000 to 1 40,000 births, but in offspring of Moroccan Jews the ratio is 1 in 5,000 to 1 in 7,000, with an allele frequency of 1 in 70 to 1 in 84 and a carrier frequency of 1 in 35 to 1 in 42.The clinical expression in characterized by a wide range of variability in the signs of androgen and mineralocorticoid excess. Virilization in the female ranged from enlarged clitoris in the mildest forms, to markedly hypertrophied clitoris with penile urethra and fused labial‐scrotal folds in the most severe forms. Hypertension causing vascular accidents and death was observed in both severe and mildly virilized patients, whereas masculinized females were sometimes normotensive.Based on historical evidence, the origin of the ancestors, and the onomastic analysis of the families surnames, we propose that the mutation of 11β‐hydroxylase dificiency in Jews from Morocco may have originated in either the ancient Jewish settlers or the native Berber tribes who lived in the region of the Atlas Mountains in the southern region of Morocco before the destruction of the Second Temple by the Romans, in the year 70 C.E.
Frequency of the common fragile site at Xq27.2 under conditions of thymidylate stress: Implications for cytogenetic diagnosis of the fragile‐X syndrome
Authors: Ramos Feliciano J. , Emanuel Beverly S. , Spinner Nancy B. 
Published: June 2005

AbstractThe distal long arm of the X chromosome contains at least 2 fragile sites, the well known rare site at Xq27.3 (FRAXA), associated with the fragile‐X syndrome, and a common fragile site at Xq27.2 (FRAXD), inducible by high doses of aphidicolin. Lesions at Xq26 have also been reported in lymphocytes of mentally retarded individuals cultured under folate deprivation or thymidylate stress. This study determines the frequency of the fragile site at Xq27.2 and lesions at Xq26 in individuals referred to our laboratory to rule out the fragile‐X syndrome and in control individuals using our routine culture system for the diagnosis of the syndrome. FRAXD was expressed in 1/20 (5%) individuals in each of the study groups, in 1–2% of cells. Lesions at Xq26 were found in 1–2% of the lymphocytes of 5/166 (3%) patients referred for fragile‐X analysis who were FRAXA negative, and in 1% of cells of 1/20 (5%) control individuals. We conclude (1) the fragile site at Xq27.2 can be demonstrated in normal individuals under conditions of thymidylate stress routinely used for cytogenetic diagnosis of the fragile‐X syndrome, (2) this fragile site is present at low levels (1–2%) in all individuals who express it and, therefore, its expression is unlikely to cause false positive diagnoses of the syndrome, (3) lesions at Xq26 are also seen at low levels in lymphocytes of individuals without the syndrome, and (4) accurate differentiation of the rare site at Xq27.3 from other distal Xq fragile sites or lesions will lead to avoidance of unnecessary repeat studies.
Behavioral phenotype of fragile X syndrome: DSM‐III‐R autistic behavior in male children
Authors: Reiss Allan L. , Freund Lisa 
Published: June 2005

AbstractComparison of 34 fragile X [fra(X)] male children (age 3–18 years) with 32 IQ‐ and age‐matched, non‐fra(X) male control children was conducted using specific DSM‐III‐R criteria for autism. Statistical analyses supported predictions that fra(X) males show increased dysfunction in peer social play, nonverbal communication (e.g., gaze aversion, gesturing), verbal communication (e.g., rate, volume, word/pharse perseveration), and repetitive motor behaviors (e.g., handflapping, rocking). There was a trend for fra(X) children to show abnormal responsivity to sensory stimuli as well such as oversensitivity to sound and increased mouthing or smelling of objects. The investigation supports the contention that fra(X) males manifest a specific subset of behaviors from the autistic spectrum. Implications for treatment are discussed.
Expressive semantic deficit in the productive language of males with fragile X syndrome
Authors: Sudhalter Vicki , Maranion Maria , Brooks Patricia 
Published: June 2005

AbstractEleven males with fragile X syndrome [fra(X)] between the ages of 6 and 41, with an average communication age of 4 years 4 months and 11 normally developing 4 year old boys were administered a sentence completion task that assessed expressive semantic competence. The fra(X) males produced significantly more semantic errors than the normally developing 4 year children. Additionally, it was shown that sentences which could be correctly completed by a wider choice of words affected fra(X) males more than the nondisabled children. These 2 results suggests that the expressive semantic system is an area of specific deficit in fra(X) males.
Verbal learning and memory among heterozygous fragile X females
Authors: Grigsby Jim , Kemper Melinda B. , Hagerman Randi J. 
Published: June 2005

AbstractIn this paper we report the results of a brief examination of verbal learning and memory in 20 heterozygous fragile X [fra(X)] positive females and in 2 control groups of 20 subjects each. One control group was composed of fra(X)‐negative mothers (obligate carriers) and sisters of male probands with fra(X) syndrome, while the other consisted of 14 head injured and 6 learning disabled females. Intellectual functioning was assessed by means of the Wechsler scales, and learning was assessed by several different clinical memory tests. Significant differences were found between groups on measures of short‐term memory and learning efficiency. Groups did not differ on measures of cued recall or delayed recall. The findings are consistent with other data and suggest the possibility that central information processing and/or specific encoding processes are defective in persons with fra(X).
Fra(X) prenatal diagnosis: Are endoreduplicated and polyploid cells useful diagnostic criteria?
Authors: Krawczun Michael S. , Duncan Charlotte J. , Stark‐Houck Sandra L. , Jenkins Edmund C. 
Published: June 2005

AbstractCytogenetic and molecular protocols for prenatal ascertainment of the fragile X syndrome and the associated fragile site at Xq27.3 are relatively reliable. Any new diagnostic method which becomes available still elicits much interest. Kimchi‐Sarfaty et al. [1991] reported an increase in frequency of endoreduplication and polyploidy in fra(X) lymphoblasts and amniocytes when cultured with methotrexate (MTX) or fluorodeoxyuridine. Recently we analyzed the endoreduplication/polyploidy system using amniotic fluid, chorionic villus, and fibroblasts from fra(X) positive abortus cell cultures and from control samples. We observed no increased expression of endoreduplicated or polyploid cells in fra(X) positive amniocytes after exposure to MTX. The data presented here clearly dispute the value of endoreduplication/polyploid scoring as a diagnostic aid in prenatal fra(X) analysis.
Recent experience in prenatal diagnosis of fragile X
Authors: Howard‐Peebles Patricia N. , Maddalena Anne 
Published: June 2005

AbstractOur experience with 48 prenatal fragile X cases (35 amniocenteses; 13 chorionic villi samplings) is summarized. Of these 48 cases, 18 consultands were known to be carriers of fragile X. No cytogenetic false negatives or positives were identified but 2 cases were uninterpretable. Cytogenetic recommendations include: 1) Ten or more days recovery time after growth in Chang medium, and 2) use of 3‐4 media/inducer systems with duplicate harvests. Direct DNA probe testing will likely be the method of choice for prenatal diagnosis after sufficient data are collected to verify interpretation. Until then, both cytogenetic and direct DNA techniques should be utilized.