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PubMed1989

Tripe palms and malignancy.

Tripe palms are characterized clinically by thickened velvety palms with pronounced dermatoglyphics. We describe two patients with triple palms and pulmonary tumors, and review the 77 patients with idiopathic- and malignancy-associated tripe palms reported in the world literature. The majority (94%) of published cases of tripe palms occurred in patients with cancer; only five patients showed no evidence of an associated malignancy. Tripe palms were frequently seen in conjunction with acanthosis nigricans (77% of cases), although they can occur alone (23% of cases). In cancer patients with tripe palms alone, the most common underlying neoplasm was pulmonary carcinoma (53% of cases), whereas patients with both tripe palms and acanthosis nigricans frequently had gastric (35% of cases) or pulmonary (11% of cases) carcinomas. A wide variety of other solid tumors have also been observed. Importantly, in over 40% of patients, tripe palms were the presenting feature of a previously undiagnosed malignancy. Therefore, all patients with tripe palms should be evaluated with a full diagnostic work-up for an associated malignancy, particularly lung or gastric carcinoma.

Aged↗
PubMed2000

Developmental instability and working memory ability in children: a magnetic resonance spectroscopy investigation.

This study of children (ages 7 through 12) wishes to determine (a) whether variation in frontal lobe brain chemistry, determined from proton magnetic resonance spectroscopy (1H-MRS), is related to performance on a working memory task in children, and (b) whether developmental instability (DI; the imprecise expression of the genetic plan for development due to several known genetic and environmental effects) underlies phenotypic variation in brain chemistry. 1H-MRS assessed neurometabolites in a right frontal white matter voxel. The Visual Two-Back test assessed working memory. A composite measure of DI was created from measures of minor physical anomalies, fluctuating asymmetry of body characteristics, and fluctuating asymmetry of dermatoglyphic features. Greater DI strongly predicted lower concentrations of creatine-phosphocreatine (Cre) and choline-containing compounds, whereas Cre and N-acetyl-aspartate positively correlated with working memory skills. Working memory skills thus seem related to frontal lobe energy metabolism, which in turn is related to DI.

Aspartic Acid↗
PubMed2005

[Genetic epidemiology: epidemiology, genetics or none of them?].

In an attempt to contribute to a better understanding of the identity of Genetic Epidemiology, we review its conception, its field of influence, its appropriate methods and techniques and, at last, some of its applications. Genetic Epidemiology involves the study of genetic factors acting on diseases and on their environmental interactions. These includes two major areas: a descriptive one, related to the distribution of such conditions in families and populations, to the epidemiologic surveillance and to the study of determinants; and another characterized by intervention, which is related to preventive measures. Because of the difficulty in considering all possible situations, especial attention is given to review some converging epidemiological and genetical methods and techniques. Among them, we stress the case studies on lab methodologies, as dermatoglyphics, and on quantitative procedures, as path analysis. Some studies are taken as examples for application, since they have been object of research in our country: leprosy, hydrargyrism and schizophrenia.

English Abstract↗
PubMed2005

Bilateral asymmetry in Chinese families with cleft lip with or without cleft palate.

OBJECTIVE: To determine if Chinese individuals with nonsyndromic cleft lip with or without cleft palate (CL/P) display more bilateral asymmetry than do their unaffected relatives. DESIGN/SUBJECTS: A case-control study of 313 individuals with CL/P from Shanghai, China, with 201 unaffected relatives as controls. METHODS: Size-adjusted asymmetry scores were defined by data on middle-finger length, palm length, palpebral fissure width, and ear length. Case-control comparisons used a multivariate repeated measures analysis of variance, paired t tests, and the Wilcoxon signed rank test. RESULTS: The ear-length measure showed a significant increase in fluctuating asymmetry (FA) in individuals with CL/P compared with their unaffected relatives, which was most pronounced in the female cleft lip and palate subgroup (p = .04). No other measures showed any increase in FA. CONCLUSION: Evidence was found for increased FA, as measured by overall ear length, in Chinese individuals with nonsyndromic CL/P, compared with their unaffected family members. The use of bilateral measurements other than dermatoglyphics may prove to be a valuable means of assessing overall developmental stability in individuals with developmental malformations and in their families.

Analysis of Variance↗
PubMed1995

Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients.

Eight cases of Kabuki syndrome in non-Japanese patients are presented. (Although the name Kabuki Make-up syndrome has been used to identify this condition, the authors recommend that the term "make-up" be deleted from the designation as it has caused problems with some of the families.) Clinical features include a characteristic facies, developmental delay, musculoskeletal abnormalities, and dermatoglyphic differences. The phenotype appears to evolve over time making the diagnosis difficult in infancy. The progressive changes in the facial characteristics as well as the musculoskeletal problems suggest an underlying defect of the connective tissue. Finally, the syndrome appears to be more common in the non-Japanese population than previously appreciated, particularly in the cleft palate population.

Abnormalities, Multiple↗
PubMed2004

Occlusal guidance of two Kabuki make-up syndrome patients: case reports.

Kabuki make-up syndrome (KMS) has been reported since 1981 by Niikawa et al. Complications of KMS were moderate mental retardation, skeletal and dermatoglyphic abnormalities. A 7 year-old boy, who had severe permanent tooth deficiency, anterior open bite, tongue thrust and mild mental retardation, was referred to our clinic. Oral characters of another patient were an anterior open bite, transposition of maxillary central and lateral incisor. Orthodontic treatment in two patients is reported and suggested future treatment plans in these patients is given.

Abnormalities, Multiple↗
PubMedDate not supplied

[Down syndrome associated with clinical manifestations of Kabuki syndrome: report of a case]

OBJECTIVE: To describe an atypical case of Down syndrome presenting with additional clinical manifestations that might be components of Kabuki (Niikawa-Kuroki) syndrome.CLINICAL REPORT: We report the clinical history of a 19-month-old girl with a 47,XX, +21 karyotype, who presented brachycephaly, flat face, long palpebral fissures, eversion of the lateral portion of the lower eyelids, arched eyebrows with sparse lateral regions, long eyelashes, epicanthus, cortical cataract, small ears, protruding tongue, muscular hypotonia, developmental delay, hyperflexibility of joints, brachydactyly, and dermatoglyphic abnormalities.CONCLUSION: The diagnosis of Down syndrome was confirmed cytogenetically. However, the presence of additional anomalies - mainly in the ocular region - suggested that the child might also have the Kabuki syndrome.

Journal Article↗
PubMedDate not supplied

[Arthrogryposis multiplex congenita--a rare congenital stiff joints syndrome].

INTRODUCTION: Arthrogryposis multiplex congenita is not a disease but a term describing multiple congenital contractures. Etiological factors include neurological and primary myogenic diseases. This rare syndrome is present at birth and is characterized by reduced mobility of many joints. The contractures involve two or more joints with ankylosis. The accompanying musculature is hypoplastic, but multiple pterygia are also present. Arthrogryposis multiplex congenita is a heterogeneous group of disorders with the incidence rate of 6.2/100000 liveborn infants. The true incidence cannot be established, because many cases result in spontaneous miscarriages or stillbirth. More than 90% of cases are associated with birth defects. The cause of this syndrome is unknown. Many forms are not hereditary, though there are hereditary forms as well. CASE REPORT: This paper presents a case with arthrogryposis multiplex congenita. The pregnancy was not controlled regularly. During the pregnancy, oligohydramnion was detected. Due to contractures, labor ended is cesarean section. The child was born in the 34th week of gestation. Flexion and extension joint contractures were observed. Active and passive mobility of the afflicted joints was reduced. There was a limited motor function in the shoulder, elbow and wrist joints with a slight internal rotation of the shoulder joint and lower arm joints during pronation. The hips were subluxated; the feet were in equinovarus position and the fingers in ulnar deviation with partial syndactyly of the 4th and 5th fingers on the left hand. The infant had abnormal dermatoglyphics. The neck was short, and the 2nd and 3rd cervical vertebrae were fused. There was also a slight left-sided thoracic scoliosis. Trismus was present due to the existing ankylosis of the temporomandibular joint. The karyotype was normal. The serum creatinine phosphokinase was slightly elevated The electromyographic picture indicate non-specific signs of myopathy. DISCUSSION AND CONCLUSION: This is a case report of a "stiff joint syndrome". Due to the fact that data from the family history were unavailable, we could not establish the type of syndrome. However, heredity, growth and development at later age, as well as IQ, might significantly help in definite differentiation of this syndrome. In pregnancy, oligohydramnion should indicate more detailed ultrasonographic examination, as ankylosed joints can be detected in utero.

Arthrogryposis↗
PubMedDate not supplied

[Use of a computer program (POSSUM) in examination of residents in a home for developmentally handicapped children and adults in Veternik-Novi Sad for occurrence and diagnostic significance of dysmorphologic signs on the skin].

The authors have examined frequency of dysmorphological signs by POSSUM at the Home for developmentally handicapped children and adults in Vetemik--Novi Sad. The aim was to establish possible different hereditary and congenital skin diseases and genetic syndromes in this population. The study was based on the following methods: method of family history including genealogy; dermatoglyphic methods; screening tests methodology in medical genetics; method of cytogenetic analysis; histo-pathological analysis; method of dermatovenerologic, genetic and dysmorphologic examinations of skin diseases by analysis of dysmorphological signs on the skin using a special computer programme. The study included 504 wards with 269 males and 235 females, and sex ratio of 1:1.14 in favour to males. Non-parametric statistics and Log-linear analysis revealed a statistically significant difference between the incidence of dysmorphological signs in the studied group and the Vojvodina population. The obtained incidence of dysmorphological signs in the examined group is presented in tables. Our results regarding the incidence of dysmorphological signs in the examined group showed significantly increased values in comparison to the population of Vojvodina.

Adolescent↗
PubMedDate not supplied

Poland syndrome (anomaly) with congenital hemangioma: a new association.

Unilateral defect of pectoral muscle and ipsilateral syndactyly constitute Poland syndrome. Absence or hypoplasia of the breast and nipple, axillary hair loss and dermatoglyphic abnormalities have also been reported in this syndrome. The primary defect could be in the development of the proximal subclavian artery with early deficit of blood flow to the distal limb and the pectoral region, resulting in partial loss of tissue in those regions. However, the association of congenital hemangioma with Poland sequence has not been observed so far. Such an association is being reported here in a 1-year-old infant, second-born of nonconsanguineous parents, who also had polydactyly instead of the documented syndactyly.

Arm↗
PubMed1976

[Medicopsychosocial syndrome of polygonosomies (XXX, XXY, XYY, syndromes etc...)].

This is an attempt to describe a common syndrom of polygonosomy. Medical, psychological and social incidences of XXX, XXY, XYY, genotypes indicate that these chromosomal aberrations share identical features: phenotypic abnormalities (high stature, dermatoglyphes abnormalities), neuropsychic troubles (neurological symptoms and mental fragility) and antisocial tendancy. One can suppose that at least some polygonosomic persons have a minimal brain dysfunction (or damage), which causes more vulnerability to environnement, deprivation and stress. Relational, educational and socio-economical factors appear now to have a marked role in the etiopathogenesis of these psychiatric troubles. Some forensic and ethical problems of human genetic research are reviewed, such as the so-called "criminal chromosome", supplementary Y chromosome, a myth based upon false and premature scientific assertions.

Antisocial Personality Disorder↗
PubMedDate not supplied

[Neurological aspects of two patients with non-mosaic and mosaic polysomy of the X and Y chromosomes].

Clinical features were compared of a patient with the 48,XXYY karyotype and a case of 47,XXY/48,XXYY mosaicism. In the former patient tremor of the upper extremities of unclear aetiology was present. In both cases epilepsy was suspected. Similarly as in other cases of 48,XXYY karyotype the first patient had skeletal anomalies, abnormalities of dermatoglyphics and personality changes. These features are rarely found in Klinefelter syndrome. The differences in relation to the syndrome were less evident in the case of mosaicism 47,XXY/48,XXYY.

Adult↗
PubMed1999

The analysis of population structure based on morphometric dimensions of metacarpal bones (the Island of Krk, Croatia).

The aim of this study was to investigate: 1) a possibility of using the morphometric dimensions of metacarpal bones for approximation of biological distances, and 2) a relationship of biological matrices, based on the morphometric dimensions of metacarpal bones to other biological (dermatoglyphic, genetic), bio-cultural (migration) and geographic variables. The morphometry of the metacarpal bones was performed according to Barnett and Nordin procedure and biological distances were estimated using Mahalanobis D2 method. Population structure was assessed through Mantel's permutation test using E2 genetic distances for classical serogenetic markers, DA genetic distances for HLA, DSW genetic distances for STRs, geographic distances expressed in kilometres, and migration kinship matrix estimated according to the method proposed by Malécot and modified by Morton. This study clearly indicated the need for applying factorial analytical approach to study the factor structure of morphometric variables that may be measured on six metacarpal bones as well as the need for conducting complex family and segregation analyses to address not only the intriguing issue of genetic vs. ecological impact onto the bone mineral turnover, but also to test the hypothesis of major gene control in determining bone mineral density.

Adult↗
PubMedDate not supplied

[Human adaptive phenotypes in physiology and medicine].

The study of pathological and physiological features associated with genetic syndromes has gained increasing momentum over the past two decades. In this paper, the definition of adaptive phenotypes is presented and the complexities and obstacles to progress in this field are summarized. This is a problem of general biology and is related to genetic specificity of every organism. The concept of individual norm of man's responses is to a certain extent associated with the doctrine of constitutions. From the practical point of view it is suggested to use in medicine and physiology an individual-constitutional approach and the term adaptophenotype (adaptive phenotype) which means a stable complex of genetic and phenotypical characteristics. It can be determined using clinical, physiological, genealogical, and dermatoglyphic methods, methods of genetic markers, phenotypical analysis, etc. A variety of developmental and physiological characteristics can form the "adaptophenotype" is used in general application, it is used to refer to a broad range of human functioning including pathological characteristics (somatic disorders), psychopathology (mental disorders), physiological and behavior problems. Genetic approaches help reveal not only individual hereditary parameters which manifest as signs but also latent pathological and physiological characteristics that may be used for professional selection. The delineation of adaptive phenotypes is a difficult enterprise, not that should not dissuade clinicians and researchers from undertaking it.

Adaptation, Physiological↗
PubMedDate not supplied

Niikawa-Kuroki syndrome.

In 1967 a baby was observed who presented post-natal progressive growth deficit, mental retardation, craniofacial dysmorphias and other malformations which didn't form part of the syndromes till then known. However the first description of patients with this combination of anomalies dates back to 1981, when Niikawa and Kuroki described the main clinical signs which characterize the syndromic table. The size and weight deficit is progressive and it reveals itself during the first year of life. The features of the face are like the make-up of kabuki actors, the word from which the denomination comes. The mental retardation is of a slight degree; there is also a retardation in the acquisition of evolutive psychomotor stages. Speech is not very structured, it begins with the first syllables at about three years and remains poor with close, unclear and tied words. Other elements which define the syndrome are: the skeleton anomalies, dermatoglyphic anomalies, cardiological and renal anomalies. The aetiology is still unknown; it is thought that it may be X-linked or autosomal predominant transmission by new mutation. The genetic analysis has shown chromosomic anomalies only in a few cases. The rareness of the syndrome and the unmistakable clinical characteristics which make diagnosis possible leads to a description of three new case. All cases present a post-natal deficit of growth, psychomotor and/or mental retardation, autistic traits, dysmorphic facies, skeleton anomalies, partial epilepsy; two cases present cardiovascular defects. In one case the GH-dependent deficit of size has been corrected by hormonal treatment.

Abnormalities, Multiple↗
PubMedDate not supplied

Frequency estimation of the gene alleles for genodermatoses in the population of Vojvodina.

Genodermatoses are hereditary skin disorders or anomalies. The authors had investigated the frequency of genes, species and clinical forms of hereditary dermatoses in Vojvodina including age and sex distribution. The experimental group was selected by random sampling of the diseased of genodermatosis and/or genetic diseases at the Clinic of Dermatology and Venereology and Institute for Children and Adolescents in Novi Sad. The experimental group included 152 cases, and that made simultaneously the experimental and positive control group in relation to the diseased population with genodermatoses and/or genetic diseases in Vojvodina. In the investigation we applied the following methods: family history taking including genealogy; dermatoglyphic examination; screening tests in medical genetics; cytogenetic analysis of patient's karyotype; histopathological analysis of the material obtained by skin biopsy; dermatovenereological, genetic and dysmorphologic examination of skin diseases by analysis of dysmorphologic signs on the skin using a special computer program--POSSUM (Pictures of Standard Syndromes and Undiagnosed Malformations). Application of non-parametric statistics and Log-linear analysis, revealed that there is no statistically significant difference between the experimental group and the group with genetic diseases in population of Vojvodina. The obtained incidence of genodermatoses and/or genetic diseases was computed by "Hardy-Weinberg's principle". These methods of genetic population investigations give possibilities for valid incidence estimation of the diseases and frequency of the gen allele's for genodermatoses and/or genetic disorders and syndromes in defined population. Our results of investigation of the incidence genodermatoses in our's population showed significantly increased values in relation to literature data for the same hereditary disorders.

Adolescent↗
PubMed2000

Poland-Möbius syndrome and disruption spectrum affecting the face and extremities: a review paper and presentation of five cases.

The author summarizes hitherto assembled experience with the clinical and genetic characteristics of Poland's and Möbius syndrome. Five selected case-records with this disease and the sequence of the Poland-Möbius syndrome are presented. Another case-record is devoted to an allied syndrome, hypoglossia-hypodactyly, found in a spontaneously aborted fetus. For establishment of a more accurate symptomatology, an irreplaceable place is held by anthropometric examination; for objectifying the asymmetry of the chest the so-called cyrtogram, the chest circumference recorded by means of a wire, is valuable. From the aspect of genetic counseling, preconception care is always provided to mothers from families with reproductive intentions, as well as ultrasonographic examination of the fetus in areas of assumed acral symptomatology (signaling phenotype). In two families ultrasonography was used for prenatal diagnosis. Invasive prenatal diagnosis by amniocentesis was employed in a family with Möbius syndrome. In these families dermatoglyphs have certain common characteristics, such a tendency towards simple patterns. In the wider family of one of our patients we detected in a cousin Parkes-Weber-Klippel-Trenaunay's syndrome, which may indicate common vascular predisposing factors.

Adult↗
PubMed1975

[Fluorescence diagnosis of a lengthened Y-chromosome in father and son].

Two cases with long Y chromosome in a father and his son have been described. The chromosomes were analysed routinely using the peripheral blood leukocyte culture according to Moorhead et al. (1960) and of the slightly modified fluorescence method of Caspersson (1970, 1971) after QM-staing. In both patients the size of the Y resembled that of the pair 17--18 of autosomes. A brightly fluorescent heterochromatic region of the Y showed normal patterns and size. In one of the patients the analysis of solar and palmar dermatoglyphics, the testicular biopsy, EEG, glucose loading test, as well as laboratory tests evaluating the hormonal function of adrenal cortex and of thyroid gland were performed. The second patient did not agree to any tests.

17-Hydroxycorticosteroids↗

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