keyword
https://read.qxmd.com/read/10852202/structural-hair-shaft-abnormalities-in-hypomelanosis-of-ito-and-other-ectodermal-dysplasias
#201
E Selvaag, A M Aas, S Heide
Hair samples from patients with different ectodermal dysplasias; hypohidrotic ectodermal dysplasia, pachyonychia congenita, tricho-dento-osseous syndrome, tricho-rhino-phalangeal syndrome, and hypomelanosis of Ito were investigated using a scanning electron microscope. The hairs of the patients showed different structural abnormalities; twisted hairs, longitudinal grooves, trichorrhexis nodosa as well as variations in the hair caliber. Hair shaft abnormalities, as in our patients with tricho-dento-osseous syndrome, and hypomelanosis of Ito have so far not been described...
May 2000: Acta Paediatrica
https://read.qxmd.com/read/10810664/-pili-trianguli-et-canaliculi-a-case-report-of-uncombable-hair-in-relation-to-atopic-eczema-and-tooth-anomalies
#202
K Beringer, C Botzi, W Hemmer, M Focke, M Götz, R Jarisch
We report on a child with pili trianguli et canaliculi. This hair shaft abnormality belongs to a heterogeneous group of diseases which are included under the synonym uncombable hair. The diagnosis was confirmed by scanning electron microscopy, revealing hair shafts with a characteristic longitudinal groove. In addition the girl suffered from atopic eczema and tooth anomalies. Our findings suggest that this disorder could represent a tricho-odontal subtype of ectodermal dysplasia.
April 2000: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://read.qxmd.com/read/10647903/the-eif3s3-gene-encoding-the-p40-subunit-of-the-translation-initiation-factor-eif3-has-eight-exons-and-maps-to-the-langer-giedion-syndrome-chromosome-region-on-8q24-but-is-not-the-trps1-gene
#203
O Schmidt, D von Holtum, S Gross, B Horsthemke, H J Lüdecke
We have mapped the gene encoding the p40 subunit of the eukaryotic translation initiation factor eIF3 (EIF3S3) close to the distal border of the minimal critical region for tricho-rhino-phalangeal syndrome type I (TRPS I) on human chromosome 8q24. Because this location makes EIF3S3 a candidate for the TRPS1 gene, we have determined the genomic structure of the EIF3S3 gene and searched for gene deletions and mutations in patients with TRPS I. The gene has eight exons and is transcribed from telomere to centromere...
December 1999: Human Genetics
https://read.qxmd.com/read/10647898/genes-and-chromosomal-breakpoints-in-the-langer-giedion-syndrome-region-on-human-chromosome-8
#204
H J Lüdecke, O Schmidt, J Nardmann, D von Holtum, P Meinecke, M Muenke, B Horsthemke
The tricho-rhino-phalangeal syndrome type II (TRPS II, or Langer-Giedion syndrome) is an example of contiguous gene syndromes, as it comprises the clinical features of two autosomal dominant diseases, TRPS I and a form of multiple cartilaginous exostoses caused by mutations in the EXT1 gene. We have constructed a contig of cosmid, lambda-phage, PAC, and YAC clones, which covers the entire TRPS I critical region. Using these clones we identified a novel submicroscopic deletion in a TRPS I patient and refined the proximal border of the minimal TRPS1 gene region by precisely mapping the inversion breakpoint of another patient...
December 1999: Human Genetics
https://read.qxmd.com/read/10615131/mutations-in-a-new-gene-encoding-a-zinc-finger-protein-cause-tricho-rhino-phalangeal-syndrome-type-i
#205
P Momeni, G Glöckner, O Schmidt, D von Holtum, B Albrecht, G Gillessen-Kaesbach, R Hennekam, P Meinecke, B Zabel, A Rosenthal, B Horsthemke, H J Lüdecke
Tricho-rhino-phalangeal syndrome type I (TRPS I, MIM 190350) is a malformation syndrome characterized by craniofacial and skeletal abnormalities and is inherited in an autosomal dominant manner. TRPS I patients have sparse scalp hair, a bulbous tip of the nose, a long flat philtrum, a thin upper vermilion border and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations and short stature. We assigned TRPS1 to human chromosome 8q24. It maps proximal of EXT1, which is affected in a subgroup of patients with multiple cartilaginous exostoses and deleted in all patients with TRPS type II (TRPS II, or Langer-Giedion syndrome, MIM 150230; ref...
January 2000: Nature Genetics
https://read.qxmd.com/read/10590019/comparative-study-of-msx-2-dlx-5-and-dlx-7-gene-expression-during-early-human-tooth-development
#206
COMPARATIVE STUDY
J L Davideau, P Demri, D Hotton, T T Gu, M MacDougall, P Sharpe, N Forest, A Berdal
Msx and Dlx family transcription factors are key elements of craniofacial development and act in specific combinations with growth factors to control the position and shape of various skeletal structures in mice. In humans, the mutations of MSX and DLX genes are associated with specific syndromes, such as tooth agenesis, craniosynostosis, and tricho-dento-osseous syndrome. To establish some relationships between those reported human syndromes, previous experimental data in mice, and the expression patterns of MSX and DLX homeogenes in the human dentition, we investigated MSX-2, DLX-5, and DLX-7 expression patterns and compared them in orofacial tissues of 7...
December 1999: Pediatric Research
https://read.qxmd.com/read/10466415/tricho-dento-osseous-syndrome-and-amelogenesis-imperfecta-with-taurodontism-are-genetically-distinct-conditions
#207
J A Price, J T Wright, S J Walker, P J Crawford, M J Aldred, T C Hart
Amelogenesis imperfecta of the hypomaturation-hypoplasia type with taurodontism (AIHHT) is inherited as a highly penetrant autosomal dominant trait. These dental findings are similar to those of another autosomal dominant condition, the tricho-dento-osseous syndrome (TDO), from which AIHHT differs primarily by lack of changes in the hair and bones. TDO is characterized by a highly variable clinical phenotype. While enamel hypoplasia and taurodontism appear to be present in all TDO cases, non-dental features may be absent, with approximately half of TDO cases losing the kinky/curly hair phenotype seen in infancy by adolescence, and in almost 20% of cases, osseous changes are not evident...
July 1999: Clinical Genetics
https://read.qxmd.com/read/10398269/tibial-hemimelia-in-langer-giedion-syndrome-possible-gene-location-for-tibial-hemimelia-at-8q
#208
C A Stevens, C A Moore
We report on a girl with Langer-Giedion syndrome or tricho-rhino-phalangeal syndrome, type II (TRPS II) with deletion on 8q, and the unusual findings of bilateral tibial hemimelia and unilateral absence of the ulna. An 8-year-old boy with TRPS II with bilateral tibial hemimelia was reported by Turleau et al. [1982: Hum. Genet. 62:183-187]. The critical region for TRPS II is 8q24.1. Although no genes involving limb development in the human have been identified in this region, two mouse syndromes are localized to the homologous chromosome region of 9A1-A4 which involve limb abnormalities...
August 6, 1999: American Journal of Medical Genetics
https://read.qxmd.com/read/9806826/comparative-mapping-of-distal-murine-chromosome-11-and-human-17q21-3-in-a-region-containing-a-modifying-locus-for-murine-plasma-von-willebrand-factor-level
#209
COMPARATIVE STUDY
K L Mohlke, A A Purkayastha, R J Westrick, D Ginsburg
Type 1 von Willebrand disease (VWD) is a common inherited disorder characterized by mild to moderate bleeding and reduced levels of von Willebrand factor (VWF). An animal model for human type 1 VWD, the RIIIS/J mouse strain, exhibits a prolonged bleeding time and reduced plasma VWF levels. We have previously mapped the defect in RIIIS/J to distal mouse Chr 11, distinct from the Vwf locus on Chr 6. This locus, Mvwf, was localized to an approximately 0.5-cM interval, tightly linked to Gip, distal to Ngfr, and proximal to Hoxb...
November 15, 1998: Genomics
https://read.qxmd.com/read/9783705/a-common-dlx3-gene-mutation-is-responsible-for-tricho-dento-osseous-syndrome-in-virginia-and-north-carolina-families
#210
J A Price, J T Wright, K Kula, D W Bowden, T C Hart
Tricho-dento-osseous syndrome (TDO) is characterised by a variable clinical phenotype primarily affecting the hair, teeth, and bone. Different clinical features are observed between and within TDO families. It is not known whether the variable clinical features are the result of genetic heterogeneity or clinical variability. A gene for TDO was localised recently to chromosome 17q21 in four North Carolina families, and a 4 bp deletion in the human distal-less 3 gene (DLX3) was identified in all affected members...
October 1998: Journal of Medical Genetics
https://read.qxmd.com/read/9623260/-familial-juvenile-macular-dystrophy-with-congenital-hypotrichosis-capitis
#211
REVIEW
M Becker, K Rohrschneider, W Tilgen, B H Weber, H E Völcker
BACKGROUND: Our knowledge about the pathogenesis of hereditary macular diseases is still very circumscript. For genetic determination, a knowledge of the coincidence of eye symptoms and other defined common symptoms is helpful. The purpose of this paper was to present two sisters of a family of consanguineous parents with the combination of hypotrichosis of the head and macular dystrophy in the context of a tricho-ocular malformation of an ectodermal dysplasia. A review of the recent literature is included...
April 1998: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://read.qxmd.com/read/9556298/autosomal-dominant-branchio-otic-bo-syndrome-is-not-allelic-to-the-branchio-oto-renal-bor-gene-at-8q13
#212
S Kumar, H A Marres, C W Cremers, W J Kimberling
The manifestations of branchio-oto-renal syndrome (BOR), Treacher Collins syndrome, tricho-rhino-phalangeal syndrome, van der Woude syndrome, and Langer-Giedion syndrome are well-defined; these conditions represent clinically and genetically separate syndromes. Autosomal-dominant branchio-oto-renal syndrome comprises preauricular pits, branchial fistulas, hearing loss, and renal anomalies. However, several families have been described without one or more of these clinical findings. In some families, the phenotypic expression is limited to branchial anomalies, preauricular pits, and hearing loss, with no renal dysplasia (branchio-otic or BO syndrome)...
April 13, 1998: American Journal of Medical Genetics
https://read.qxmd.com/read/9467018/identification-of-a-mutation-in-dlx3-associated-with-tricho-dento-osseous-tdo-syndrome
#213
J A Price, D W Bowden, J T Wright, M J Pettenati, T C Hart
Tricho-dento-osseous syndrome (TDO) is an autosomal dominant disorder characterized by abnormal hair, teeth and bone. The main clinical manifestations of TDO include taurodontism, enamel hypoplasia, kinky, curly hair at birth and increased thickness and density of the cranial bones. These pleiotropic clinical features suggest the role of a developmental gene modulating epithelial-mesenchymal interactions. We recently mapped the TDO locus to chromosome 17q21, a region that includes two members of the distal-less homeobox gene family, DLX3 and DLX7...
March 1998: Human Molecular Genetics
https://read.qxmd.com/read/9465470/-tricho-odonto-onycho-syndrome-in-hyphydrotic-form-based-on-two-cases
#214
A Csiba, Z Dénes, T Szakály
Authors demonstrate the hypohydrotic form of the tricho-odontoonycho syndrome by a 13 years old sister and by a 12 years old brother. It is given a review of the literature of this and similar other syndromes.
January 1998: Fogorvosi Szemle
https://read.qxmd.com/read/9415229/expression-of-stem-cell-factor-in-basal-cell-carcinoma
#215
T Yamamoto, I Katayama, K Nishioka
Stem cell factor (SCF) distribution in basal cell carcinomas (BCCs) was examined by immunohistochemistry. Eighteen BCCs (11 nodular, three superficial, two cystic, one adenoid and one morphoeic type) showed positive expression of SCF in the tumour islands. The centre of the tumour island was strongly positive in nodular, superficial and morphoeic types. In cystic BCCs, SCF-positive tumour cells were also located in the peripheral lesion around the cystic space. SCF was also detected on fibroblast-like cells and mast cells in the stroma...
November 1997: British Journal of Dermatology
https://read.qxmd.com/read/9382143/analysis-of-the-tricho-dento-osseous-syndrome-genotype-and-phenotype
#216
J T Wright, K Kula, K Hall, J H Simmons, T C Hart
The tricho-dento-osseous (TDO) syndrome demonstrates kinky curly hair, thin-pitted enamel, taurodontism, and thickening of cortical bone. The purpose of this investigation was to characterize the phenotypic variation of TDO in 3, previously unreported, kindreds and to examine possible candidates for the genomic TDO locus. Thirty-three affected and 20 unaffected individuals were recruited for prospective analysis. Participants were evaluated clinically and photographed by one examiner. Blood was drawn for genetic linkage analyses and radiographs were taken to assess dental and skeletal characteristics...
October 17, 1997: American Journal of Medical Genetics
https://read.qxmd.com/read/9361034/genetic-linkage-of-the-tricho-dento-osseous-syndrome-to-chromosome-17q21
#217
T C Hart, D W Bowden, J Bolyard, K Kula, K Hall, J T Wright
Tricho-dento-osseous syndrome (TDO), MIM# 190320, is transmitted as a highly penetrant autosomal dominant trait that is characterized by variable clinical expression. The principal clinical features include kinky/curly hair in infancy, enamel hypoplasia, taurodontism, as well as increased thickness and density of cranial bones. Possible genetic linkage has been reported for TDO with the ABO blood group locus, but the gene defect remains unknown. We have identified four multiplex families (n = 63, 39 affected, 24 unaffected) from North Carolina segregating TDO...
December 1997: Human Molecular Genetics
https://read.qxmd.com/read/9272151/a-de-nevo-complex-t-7-13-8-translocation-with-a-deletion-in-the-trps-gene-region
#218
C A Brandt, H J Lüdecke, J Hindkjaer, H Strømkjaer, D Pinkel, T Herlin, L Bolund, U Friedrich
Molecular cytogenetic analyses have resolved the pathogenetic aberration of an 8-year-old girl with tricho-rhino-phalangeal syndrome type I (TRPS I), normal intelligence, and a karyotype originally described as 46,XX,t(8;13)(q24;q21). R- and Q-banding and high resolution R-banding analyses have also disclosed a seemingly mosaic abnormality of the distal short arm of chromosome 7 but have not fully characterized this abnormality. Combined primed in situ labelling and chromosome painting, and three-colour chromosome painting have revealed a complex, apparently balanced translocation t(7;13;8)...
September 1997: Human Genetics
https://read.qxmd.com/read/9217212/a-newly-recognized-autosomal-dominant-ectodermal-dysplasia-syndrome-the-odonto-tricho-ungual-digital-palmar-syndrome
#219
H R Mendoza, M D Valiente
We report on two brothers, their mother, and 18 other relatives of five generations presenting an apparent newly recognized syndrome involving natal teeth, trichodystrophy, prominent interdigital folds, simian-like hands with transverse palmar creases, and ungual digital dystrophy, inherited as an autosomal dominant trait. In addition, the patients had hypoplasia of the first metacarpal and metatarsal bones and distal phalanges of the toes.
August 8, 1997: American Journal of Medical Genetics
https://read.qxmd.com/read/9150732/the-tricho-rhino-phalangeal-syndromes-frequency-and-parental-origin-of-8q-deletions
#220
J Nardmann, L Tranebjaerg, B Horsthemke, H J Lüdecke
The tricho-rhino-phalangeal syndromes type I (TRPS I) and type II (TRPS II) result from the deletion of overlapping sets of genes within the Langer-Giedion syndrome chromosomal region (LGCR) on chromosome 8. In contrast to TRPS I patients, most TRPS II patients have cytogenetically visible deletions and are often mentally retarded. Using Southern blot and fluorescence in situ hybridization analysis, we searched for submicroscopic deletions in 12 patients with TRPS I and an apparently normal karyotype. One patient of normal intelligence was found to have a deletion of approximately 5 Mb...
May 1997: Human Genetics
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