Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “DERMATOGLYPHICS”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,783 records · Page 99Linked to original sources
PubMed1997

Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.

Kabuki make-up syndrome (KMS), also known as Niikawa-Kuroki syndrome, is a rare malformation complex characterized by a peculiar facies with long palpebral fissures and partially everted lower eyelid, mental retardation, dwarfism, and skeletal and dermatoglyphic abnormalities. Four children from different ethnic groups presented with phenotypic manifestation of KMS. They showed variable degrees of learning disabilities, mental retardation, and autistic behavior. Two boys declined in IQ in early adolescence. In addition to being aware of the variable presentation of cognitive and behavioral characteristics in those already diagnosed, it is important to consider KMS when assessing dysmorphic children with learning disabilities and/or autism.

Abnormalities, Multiple↗
PubMed1994

Multiple pilomatricomas in Rubinstein-Taybi syndrome: a case report.

Rubinstein-Taybi syndrome is a multisystem developmental disorder due to an autosomal dominant mutation. It is clinically defined by the presence of peculiar facies, mental retardation, and broad thumbs and first toes. Important dermatologic findings include hirsutism, keloids, hemangiomas, and dermatoglyphic abnormalities. We report a 12-year-old girl with the typical phenotype of Rubinstein-Taybi syndrome, associated with numerous pilomatricomas. These are benign epithelial neoplasms with hair cell differentiation that may have a familial transmission. Pilomatricomas have not been reported in patients with Rubinstein-Taybi syndrome, although their association with myotonic dystrophy, another autosomal dominant disorder, is well known. Possibilities to explain the association include contiguous gene syndrome, the action of a pleiotropic gene, predisposition to malformations, and mere coincidence.

Child↗
PubMed1987

Identical twin marrow transplantation for 5 patients with chronic myeloid leukaemia: role of DNA finger-printing to confirm monozygosity in 3 cases.

5 patients with chronic myeloid leukaemia (CML) have been treated by BMT from identical twin donors. Syngeneity of the twins was established by conventional methods in the first 2 patients. These included the similarity of phenotype, dermatoglyphics and analysis of red cell isoenzymes and blood groups. 2 of the other patients had received multiple blood transfusions prior to referral for BMT thereby invalidating red cell analysis. However genetic identity was confirmed in these patients by the method of DNA 'finger-printing' which demonstrated identical restriction-fragment length polymorphisms. Conclusive proof of syngeneity in twins prior to BMT is important since it obviates the need for T-cell depletion and/or post-graft immunosuppression to prevent graft-versus-host disease (GVHD). All 5 patients were conditioned with high-dose chemoradiotherapy prior to BMT and all patients are alive and disease-free at a median follow-up of 12 months. In conclusion, we report a new, reliable method for determining syngeneity of twins which has bearing on the technical approach to BMT.

Adult↗
PubMed1976

Familial occurrence of cerebral gigantism, Sotos' syndrome.

Since the original description of cerebral gigantism, about 85 cases have been reported. Four papers comment on familial occurrence but never in parents and their children. This paper describes the syndrome in a mother and her child, which, together with facts pointing towards prenatal etiology, such as excessive birthweight, striking mutual resemblance and abnormal dermatoglyphics, points to a genetic defect. Previous endocrine studies are enlarged by the findings of normal serum somatomedin and serum prolactin.

Abnormalities, Multiple↗
PubMed1984

The Alström syndrome: ophthalmic histopathology and retinal ultrastructure.

A case of pigmentary retinal degeneration causing blindness in early childhood, progressive neurosensory hearing loss, diabetes mellitus, acanthosis nigricans, hypogonadism with normal secondary sex characteristics, and kyphoscoliosis without polydactyly and with no mental retardation is reported. The results of endocrinological studies, karyotype analysis, and digital dermatoglyphics supported the clinical diagnosis of the Alström syndrome. The patient had small globes, bilateral posterior subcapsular cataracts, lacy vacuolation of the iris, ciliary process hyalinisation, unilateral asteroid hyalosis, total absence of rods and cones, intraretinal melanin pigment, retinal pigment epithelium atrophy, focal chorioretinal fusion, preretinal fibrosis, bilateral giant optic disc drusen, and optic nerve atrophy. Electron microscopy of the retina demonstrated large numbers of melanolysosomes, numerous folds of basement membrane material, disruption of Bruch's membrane, and numerous bundles of extracellular collagen fibrils in the retinal pigment epithelium.

Adult↗
PubMed1975

A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.

This paper describes a 7-year-old girl with trichodysplasia, normal teeth, onychogryposis, hypohidrosis, psychomotor and growth retardation, dry and warm skin with follicular hyperkeratosis, pigmentary disturbances (hyper- and hypochromic spots), bilateral nuclear cataract, dermatoglyphic anomalies, and other signs. This condition is considered a new form of ectodermal dysplasia.

Cataract↗
PubMed1976

Familial 'partial 9p' trisomy: six cases and four carriers in three generations.

Six cases of translocation trisomy for the distal half of the short arm of a number 9 chromosome and four asymptomatic balanced translocation carriers are presented in a three-generation pedigree. The clinical features are remarkably similar to those recently recognized and increasingly reported in full short arm (9p) trisomy and should be considered a modification of the same syndrome. In addition to non-specific mental retardation and short stature, there is, in common, a characteristic facies, including down-turned corners of the mouth, a slightly bulbous nose, moderately large ears, suggestively wide-set eyes with an antimongoloid slant, dysplasia and hypolasis of the nails, clindactyly of the 5th fingers, and abnormal dermatoglyphs. It appears that the 'trisomy 9p syndrome' in its variant forms, including trisomies for more or less than just the short (p) arm, is one of the most common clinical autosome anomalies in humans, exceeded only by trisomy 21 (Down's syndrome) and possibly trisomies of chromosomes 13 and 18.

Adult↗
PubMed1976

Trisomy 13 in a female over 5 years of age.

A case of simple trisomy 13, confirmed by G-banded chromosome analysis, is reported in a Caucasian female over 5 years of age. There is no cytogenetic evidence available for mosaicism in the propositus or her parents. The patient's salient clinical features are: profound mental and motor retardation; microcephaly with trigonocephaly; ear malformations; small, sunken eyes; unusual eyebrows; cleft lip and palate; bulbar nose; coloboma iris; polydactyly; unusual dermatoglyphic patterns; large adductor thumbs; enlarged great toes; multiple capillary haemangiomas; club feet; inguinal and umbilical hernias; hyperconvexed fingernails; and seizure disorder.

Child, Preschool↗
PubMed1979

De novo interstitial deletion del(1)(p21p32).

A girl aged 14 years 9 months, overweight, with severe psychomotor retardation, short stature, a sheep-like face, malformed ears, skeletal and dermatoglyphic abnormalities, and partial deletion of the short arm of chromosome 1 is presented. The karyotype was 46,XX,del(1)(qter to p22::p32 to pter).

Abnormalities, Multiple↗
PubMed1980

45,X/46,XY/47,XY, +21 mosaicism in a hypogonadal phenotypic male.

A phenotypically normal male was found to have a chromosomal complement of 45,X/46,XY/47,XY, +21. This mosaic pattern has been reported only twice before. Although the patient had apparently fathered two children, he now has progressive impotence, absence of sperm in the seminal fluid, atrophic testes, almost complete absence of germ cells in testicular biopsies, high plasma LH and FSH, and a low normal testosterone. There were no physical characteristics of Turner's or Down's syndromes except for dermatoglyphic features commonly associated with the latter. These observations in this patients emphasise the value of chromosomal studies in multiple tissues in cases of mosaicism with atypical clinical features.

Chromosome Deletion↗
PubMed1987

Familial t(8;15)(p23.3;q22.3): report of two cases with dup(15) (q22.3----qter).

Two affected first cousins with duplication of 15(q22.3----qter) are reported. This resulted from a familial t(8;15)(p23.3;q22.3) translocation. The findings in these patients are compared with each other and with six other published cases. Anthropometric and dermatoglyphic findings are summarised.

Abnormalities, Multiple↗
PubMed1994

A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion.

Three unrelated Puerto Rican boys, ranging in age from 3 to 4 years, had marked, central, non-progressive hypotonia, chronic constipation, severe psychomotor retardation, seizures or abnormal electroencephalograph or both, abnormal dermatoglyphics, delayed bone age, dysharmonic skeletal maturation, and preponderance and larger size of type 2 muscle fibres. Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the three patients also had undescended testes, hypertelorism, and tapered fingers. Birth weight, postnatal physical growth, and head size were average. Family and gestational histories and laboratory evaluations were normal. The combination of features observed in the three boys appears to be distinct and to represent a new syndrome.

Abnormalities, Multiple↗
PubMed2006

Influence of nanoencapsulation on human skin transport of flufenamic acid.

The effect of the inclusion of flufenamic acid in poly(lactide-co-glycolide) nanoparticles on the transport of flufenamic acid into excised human skin was investigated. Penetration and permeation data were acquired using two different in vitro test systems: the Saarbrucken penetration model, where the skin acts as its own receptor medium, and the Franz diffusion cell, where the receptor medium is a buffer solution. For the stratum corneum, no differences were found between nanoencapsulated and free drug. Drug accumulation in the deeper skin layers and drug transport across human epidermis were slightly delayed for the nanoencapsulated drug compared to the free drug after shorter incubation times (<12 h). In contrast, after longer incubation times (>12 h), the nanoencapsulated drug showed a statistically significantly enhanced transport and accumulation (p < 0.05). Additionally, nanoencapsulated flufenamic acid was visualized by multiphoton fluorescence microscopy. Particles were found homogeneously distributed on the skin surface and within the dermatoglyphs, but no nanoparticles were detected within or between the corneocytes.

Administration, Cutaneous↗
PubMed1977

An ectodermal dysplasia syndrome of alopecia, onychodysplasia, hypohidrosis, hyperkeratosis, deafness and other manifestations.

A girl is reported with a hitherto apparently undescribed ectodermal dysplasia syndrome. The main findings include: alopecia, onychodysplasia, hypohidrosis, sensorineural deafness, skin with a tan color and hyperkeratosis (involving also plams and soles), unusual facies (with slight auricle and nose abnormalities), pectus excavatum, severe hyperopia, EEG abnormalities, and retarded bone age. The patient also presents mongoloid palpebral slanting, narrow palpebral fissures, bilateral esotropia, photophobia and dermatoglyphics with extensive ridge dissociation. The etiology is unknown but presumed to be genetic, possibly due to the homozygous state of an autosomal recessive mutation.

Alopecia↗
PubMed1979

Myeloproliferative disease of childhood associated with a trisomy 21 clone.

Myeloproliferative disease of childhood is frequently associated with chromosomal anomalies, usually of the C group. Clinical features are similar to those of the juvenile type of chronic myeloid leukemia. A child with this disease is described. Marked myeloid proliferation, anemia, thrombocytopenia and hepatosplenomegaly were present; leukocyte alkaline phosphatase and fetal hemoglobin were moderately elevated. Chromosome analysis of bone marrow cells revealed a mosaicism 47,XX,+21/46,XX. Down's syndrome was ruled out by the child's normal phenotype and dermatoglyphic analysis. The cytogenetic finding is probably evidence for the clonal origin of the trisomy 21 cell line.

Bone Marrow Cells↗
PubMed1991

Study of the primary crest 'pavement' structure in healthy skin.

The primary crest surface of the healthy skin may have a smooth appearance or form a 'pavement'-like picture because of the presence of circular or polygonal subunits. In this study, the primary crest pavement structure was examined in different sites of healthy skin. The pavement structure was found in 70-100% of the adjacent areas of the palms and soles, and also on the skin of the elbows and knees. This pavement formation is absent on the skin surface of other areas or may be found in a small percentage of 5-20%. It is possible that the pavement structure could represent modified dermatoglyphics in the hairy skin.

Adult↗
PubMed1993

Molecular mapping of twenty-four features of Down syndrome on chromosome 21.

To determine which regions of chromosome 21 are involved in the pathogenesis of specific features of Down syndrome, we analysed, phenotypically and molecularly, 10 patients with partial trisomy 21. Six minimal regions for 24 features were defined by genotype-phenotype correlations. Nineteen of these features could be assigned to just 2 regions: short stature, joint hyperlaxity, hypotonia, major contribution to mental retardation and 9 anomalies of the face, hand and foot to the region D21S55, or Down syndrome chromosome region (DCR), located on q22.2 or very proximal q22.3, and spanning 0.4-3 Mb; 6 facial and dermatoglyphic anomalies to the region D21S55-MX1, including the DCR and spanning a maximum of 6 Mb on q22.2 and part of q22.3. Thus, the complex phenotype that constitutes Down syndrome may in large part simply result from the overdosage of only one or a few genes within the DCR and/or region D21S55-MX1.

Adolescent↗
PubMed2006

Cri du Chat syndrome.

The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation. Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism. Molecular cytogenetic analysis has allowed a cytogenetic and phenotypic map of 5p to be defined, even if results from the studies reported up to now are not completely in agreement. Genotype-phenotype correlation studies showed a clinical and cytogenetic variability. The identification of phenotypic subsets associated with a specific size and type of deletion is of diagnostic and prognostic relevance. Specific growth and psychomotor development charts have been established. Two genes, Semaphorin F (SEMAF) and delta-catenin (CTNND2), which have been mapped to the "critical regions", are potentially involved in cerebral development and their deletion may be associated with mental retardation in CdCS patients. Deletion of the telomerase reverse transcriptase (hTERT) gene, localised to 5p15.33, could contribute to the phenotypic changes in CdCS. The critical regions were recently refined by using array comparative genomic hybridisation. The cat-like cry critical region was further narrowed using quantitative polymerase chain reaction (PCR) and three candidate genes were characterised in this region. The diagnosis is based on typical clinical manifestations. Karyotype analysis and, in doubtful cases, FISH analysis will confirm the diagnosis. There is no specific therapy for CdCS but early rehabilitative and educational interventions improve the prognosis and considerable progress has been made in the social adjustment of CdCS patients.

Catenins↗