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Kabuki syndrome is characterised by a peculiar face resembling the make-up of actors in Kabuki, the traditional Japanese theatre, postnatal growth deficiency, mild to moderate mental retardation, unusual dermatoglyphic patterns, and various skeletal and visceral anomalies. The author would like to draw attention to this less known condition in Hungary by a case-report of a 23 months old female patient with Kabuki syndrome.
107 patients with Itsenko-Cushing disease were examined for heredity: family history was analyzed in 75 cases, dermatoglyphics was assessed in 44 cases, I- and II-class HLA antigens were studied in 68 cases. The patients were found to have hereditary loading both by Itsenko-Cushing and other diseases (hypertension, atherosclerosis, autoimmune disorders). Clinico-genealogical evaluation made it possible to identify forms of the disease which are inherited autosome-recessively and autosome-dominantly. However, in the majority of patients the disease onset had multifactorial nature, as there were HLA-antigen associations by DR4, DR5, DR7, DRw53, DQw3. Pilot experience with genetic study of the disease showed its genetic determination in some forms, its association with hypertension and atherosclerosis, approaches to prevention, prognosis, classification. Practical recommendations on detailed family history collection in patients with Itsenko-Cushing disease have been developed.
Finger dermatoglyphic patterns have been analyzed in 200 Sonowal Kachari (100 males, 100 females), living in the Dibrugarh District of Assam (India). The results were compared with those reported on other Kachari populations.
Genetic predisposition is an important factor in pulmonary tuberculosis. The pattern of dermatoglyphic indicators is thought a reliable marker of such predisposition. Selective character of the disease emergence is related with an unfavorable combination of genetic and extra-genetic risk factors in an individual. A comprehensive assessment of the above factors may contribute to a reliable prediction of a high risk to develop tuberculosis.
A 7 year old girl in whom an interstitial deletion of the short arm of a chromosome no. 4 had been discovered [46, XX, del(4)(p15.2p16)] is moderately retarded and exhibits some mild craniofacial dysmorphies. Cardiological examination revealed a PDA and an ASD. From seven similar cases published up to now a typical phenotype cannot be concluded. Dermatoglyphics show a remarkable frequency of digital arches but the diagnostic significance is questioned by this observation.
Dermatoglyphic studies showed that children with the Williams syndrome had certain peculiarities of morphological as well as behavioral character. The findings suggest that the syndrome can be regarded as a genetical model of the right brain dominance.
The E. A. D. is a genodermatosis characterised by absence or important diminuation of sweat glands. The study of 3 children of different families allows us to identify the diagnostic elements: typical facial signs, anhidrosis, rarity of teeth "buds", abnormalities of dermatoglyphes. This diagnosis must be established early, to protect the newborn from accidents of overheating caused by perspiration insufficiency. The sweat glands are not affected alone: exocrine glands also, explaining the fragility of the upper respiratory tract in such patients. The teeth abnormalities are important and need replacement by false teeth, carefully done at an early date and continued later on. Genetic investigation is indispensable to discover women who carry the disease, with a high risk of transmission to their children.
Genetic monitoring on the basis of clinical-epidemiologic indices of congenital and hereditary pathology among newborns and spontaneous abortions as well as morphogenetic finding analysis in different age group representatives have been carried out. Mutation process dynamics in various ecological zone populations has been established. Dermatoglyphics and karyograme changes have been revealed their expressiveness depended on the general state of the organism, age and hereditary predisposition to polygenic diseases.
The peculiarities are described of brain electric activity of inbred mice and rats susceptible and resistant to epileptogenic influence. The EEG are discussed of anti- and proconvulsant drugs in man and animal models. Brain weight and dermatoglyphic patterns are suggested as predictors of epilepsy development.
Fourteen anthropometric measurements were used to examine the affinities among 20 Dhangar castes of Maharashtra, in a sample of 2437 adult males. The results are interpreted in the light of their ethnohistorical and geographical backgrounds on the one hand and with reference to the affinities observed on the basis of other biological variables, different sets of qualitative and quantitative dermatoglyphic variables and genetic markers, on the other. The configuration of anthropometric distances is largely conformatory to the geographical backgrounds of the groups, and there is no significant correspondence with the dendrograms based on the other sets of variables which are mutually independent among them.
The comparative analysis of characteristics of three different cattle breeds (Brown Carpathian, Pinzgauer, Red Polish) on the 5 molecular-genetic markers and 5 muzzle dermatoglyphic types was carried out. It was indicated, that one characteristic can not be use as a breed-specific one but only their complex. The main aspect of search of this complex is the use of characteristics which mark different structure-functional systems of whole organism.
The dental, clinical, genetic, radiological and dermatoglyphic findings in patients from a large kindred with congenital hypodontia of maxillary lateral incisors (CHMLI) in association with coloboma of the iris (Cl) and hypomaturation type of amelogenesis imperfecta (HTAI) are presented. The pedigree of the kindred showing multiple consanguinaeous marriages and the findings of the family members with CHMLI and a family member with CHMLI, Cl and HTAI and two members with both CHMLI and HTAI suggested that the isolated CHMLI was due to an autosomal recessive gene, but, the Cl was determined by an autosomal dominant gene linked to CHMLI gene. HTAI was an autosomal recessive character linked to both CHMLI and Cl.
The dental, clinical, radiological, pedigree and dermatoglyphic findings of a patient showing hypoplasia of enamel and intrinsic staining of the teeth from erythroblastosis fetalis are presented.
The purpose of this paper is to report a boy with a typical case of anhydrotic ecotdermal dysplasia, spina bifida occulat, and abnormal dermatoglyphics. Histologic studies of the skin showed absence of sebaceous and sweat gland and hair follicles. The clinical examination of the mother and the histopathological report of her skin suggests sex linked transmission; however, an autosomal dominat gene limited to males can not be excluded.
Five new cases are presented of a syndrome characterized mainly by severe mental retardation, epilepsy, puppet-like ataxic movements, microbrachycephaly, prognathism, tongue protrusion, and inappropriate paroxysms of laughter. The cases are analyzed with reference to personal and family histories, clinical findings, and results of special investigations (biochemical, chromosomal, dermatoglyphic, EEG, and radiologic). The findings are compared with those in the 22 patients described previously. Though clinically distinctive, there is as yet no clear-cut evidence as to cause.
We report on a mother and child with a paracentric inversion of the long arm of chromosome 18: 46,XX,inv(18)(q21.1q23). The child had findings in common with those seen in 18q- syndrome including: microcephaly, epicanthal folds, midface hypoplasia, and abnormally modeled ears, dermatoglyphic whorls on fingertips, clubfeet, hearing loss, and developmental delay. The mother and several maternal relatives had mild mental retardation and hearing loss. Magnetic resonance imaging of the child's brain showed abnormal myelination. Molecular studies including PCR-based markers for the MBP locus and fluorescent in situ hybridization with a P1 genomic clone on mother and child demonstrated only one copy of the MBP locus (18q23) with the deletion extending beyond the MBP locus. Therefore, the deletion in the MBP region may account for the abnormal myelination seen in the patient. The other clinical findings, including mental retardation and hearing loss in this family, may reflect disruption of distal or proximal genes within the deleted MBP region or at the more proximal breakpoint 18q21.1, and may represent a contiguous gene syndrome. Further study of this family may help define those genes functioning in the MBP region that contribute to the phenotype of 18q- syndrome.
A separate analysis of ulnar and radial finger ridge-counts, obtained from 115 Aymara Indians (55 males and 60 females) of northern Chile, was performed. From these variables, directional asymmetry, fluctuating asymmetry, indices of bilateral asymmetry (square root of A2), and intraindividual diversity (s/square root of 5) were calculated for each sex. The results show that most bimanual differences for the ridge-counts are not statistically significant in the Aymara, except for radial counts in female first and second fingers (right hand means are larger), while most ulnar-radial differences are highly significant in both sexes (radial values exceed ulnar ones). Most sex differences do not reach statistical significance, although males have more ridge-counts, lower directional asymmetry, somewhat lower fluctuating asymmetry, and lower indices of asymmetry and diversity than females. As fluctuating asymmetry is not larger in males, the dermatoglyphic findings do not indicate support for the hypothesis that males are less canalized than females. In accordance with the findings of other authors, interpopulation comparisons in the indices of asymmetry and diversity show ethnic differences. Both indices tend to be low in samples of African ancestry, high in samples of European origin, and intermediate in the Aymara, while Indian groups are characterized by high asymmetry and low diversity values. Moreover, the data reveal a geographical trend in that asymmetry and diversity values tend to decrease from the northern to the southern hemisphere in populations of Europe, the Middle East, and Africa, thus indicating greater ridge-count variability and heterogeneity among fingers in northern populations. It is assumed that this gradient primarily reflects different degrees of miscegenation and heterozygosity.
The hypothesis tested was that digit anomalies among individuals exposed in utero to antiepileptic drugs (AED) are best identified by a systematic search, including radiographs and dermatoglyphics, rather than relying only on visual inspection. A systematic search was made for five types of digit abnormalities in 46 AED-exposed individuals ages 5-29 years in comparison with controls: visible anomalies, size of fingernails, dermal ridge patterns, length of metacarpals and phalanges, and qualitative changes in the distal phalanges. Among the AED-exposed, nail size was not decreased. However, there was a 10.8% frequency of digit anomalies, a 12% frequency of three or more arch patterns, and significant shortening and qualitative changes in the distal phalanges, all of which are consistent with the fetal effects of AED. Among the 42 individuals who underwent all evaluations, 14.3% had two or more of these abnormalities, most of which would not be identified by clinical inspection. This frequency is much higher in these AED-exposed individuals than in the general population. Radiographs in 13 individuals over a period of several years showed that the changes in the phalanges and metacarpals persisted.