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PubMed1983

Direct bone anchorage of external hearing aids.

Some patients with hearing disorders cannot wear a conventional hearing aid but have to use bone conduction in which the aid has to be attached with steel springs over the head. A new method of reconstruction involving the insertion of bone-anchored screws has been tested in a clinical survey of 14 patients. A titanium implant was anchored in the temporal bone and, in a later session, connected to a skin penetrating abutment. An external hearing aid was snapped on to the abutment. The patients have now been followed up for 53 months. There have been no problems with the bone anchorage or with infections around the skin penetration site. The hearing of the patients has improved. The cosmetic result is reported to be favourable.

Adolescent↗
PubMed1986

The versatility of the temporalis muscle flap in reconstructive surgery.

The temporalis muscle flap recently has become widely used in reconstructive surgery of the maxillo-facial region, although it was described around the turn of the century. We review the work which led to its development, and to illustrate its versatility, we describe some of its uses.

Ankylosis↗
PubMed1991

Chromosomal deletion 4p15.32----p14 in a Treacher Collins syndrome patient: exclusion of the disease locus from and mapping of anonymous DNA sequences to this region.

Treacher Collins syndrome is an autosomal dominant condition of bilateral craniofacial abnormalities of structures derived from the first and second branchial arches. A patient with severe manifestations of Treacher Collins syndrome and a de novo chromosomal deletion in region 4p15.32----p14 was identified. Anonymous DNA sequences of loci D4S18, D4S19, D4S20, D4S22, and D4S23 were mapped to the deleted region. DNA probes previously mapped to loci on chromosome 4p (D4S10, D4S15, D4S16, D4S26, D4S35, D4S95, D4S144, RAF1P1, QDPR, and HOX7) were not deleted in this patient. Linkage analysis between the D4S18, D4S23, and QDPR loci and Treacher Collins syndrome in eight families excluded the Treacher Collins syndrome locus from the region of the deletion.

Chromosome Deletion↗
PubMed1995

Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-q33.1.

Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. Previous studies have shown that the Treacher Collins syndrome locus is flanked by D5S519 and SPARC, and a yeast artificial chromosome contig encompassing this "critical region" has been completed. In the current investigation a cosmid containing D5S519 has been used to screen a human placental cDNA library. This has resulted in the cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene. Two different mRNA species that have identical protein coding sequences but that differ in the size and sequence of the 3' untranslated regions (3' UTR) have been identified. The smaller species has a 3' UTR of 1035 bp, whereas that of the larger is 4878 bp.

Amidohydrolases↗
PubMedDate not supplied

Use of the Augustine stylet anticipating difficult tracheal intubation in Treacher-Collins syndrome.

Treacher-Collins syndrome is a familial and congenital condition often associated with a difficult airway. Although the condition is rare, the anesthesia care provider may encounter it on occasion. This report describes a patient with Treacher-Collins syndrome scheduled to undergo facial reconstruction (fore-head plasty, brow lift, and rhinoplasty) as the sixth of multiple operations. A nasotracheal intubation using the stylet component of a recently introduced airway device, the Augustine Guide, was successfully performed. This is believed to be the first reported use of this method using the Augustine stylet.

Adult↗
PubMedDate not supplied

Nasotracheal intubation in a child with Treacher Collins syndrome using the Bullard intubating laryngoscope.

Tracheal intubation may be difficult or impossible in children with Treacher Collins syndrome. Nasotracheal intubation may be required for appropriate repair of cleft palate in these patients. This report describes the use of the Bullard intubating laryngoscope to facilitate nasotracheal intubation in a child with severe mandibulofacial dysplasia.

Anesthesia, Inhalation↗
PubMed2004

Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma.

Mutations in the Treacher Collins syndrome gene, TCOF1, cause a disorder of craniofacial development. We manipulated the levels of Tcof1 and its protein treacle in a murine neuroblastoma cell line to identify downstream changes in gene expression using a microarray platform. We identified a set of genes that have similar expression with Tcof1 as well as a set of genes that are negatively correlated with Tcof1 expression. We also showed that the level of Tcof1 and treacle expression is downregulated during differentiation of neuroblastoma cells into neuronal cells. Inhibition of Tcof1 expression by siRNA induced morphological changes in neuroblastoma cells that mimic differentiation. Thus, expression of Tcof1 and treacle synthesis play an important role in the proliferation of neuroblastoma cells and we have identified genes that may be important in this pathway.

Animals↗
PubMed2005

Mandibular osteomyelitis and fracture successfully treated with vascularised iliac bone graft in a patient with pycnodysostosis.

Pycnodysostosis is a rare sclerosing bone disorder. Complications such as osteomyelitis and fracture of the jaws are not uncommon and difficult to treat. Treatment by reconstruction with a reconstruction plate and an iliac bone graft fails in most cases. We report a case of pycnodysostosis with osteomyelitis and fracture of the mandible that was successfully treated with vascularised iliac bone graft. We believe that this procedure is the best method for the treatment of this condition.

Bone Transplantation↗
PubMed2004

Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.

Treacher Collins syndrome (TCS) is characterized by an abnormality in craniofacial development during early embryogenesis. TCS is caused by mutations in the gene TCOF1, which encodes the nucleolar phosphoprotein treacle. Genetic and proteomic characterizations of TCS/treacle are based on the previously reported 26 exons of TCOF1. Here, we report the identification of 231-nucleotide (nt) exon 6A (between exons 6 and 7) and 108-nt exon 16A (between exons 16 and 17). Isoforms with exon 6A are up to 3.7-fold more abundant than alternatively spliced variants without exon 6A, but only minor isoforms contain exon 16A. Exon 6A encodes a peptide sequence containing basic and acidic domains similar to 10 other exons of TCOF1. Unlike the other exons, exon 6A encodes a nuclear localization signal (NLS) which does not, however, alter the nucleolar localization of full-length treacle. The discovery of exons 6A and 16A is relevant to mutational analysis of the TCOF1 gene in TCS patients, and to functional analysis of its gene product.

Amino Acid Sequence↗
PubMed2005

Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene product.

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development caused by mutations in the TCOF1 gene, which encodes the nucleolar phosphoprotein treacle. We previously reported a function for mammalian treacle in ribosomal DNA gene transcription by its interaction with upstream binding factor. As an initial step in the development of a TCS model for frog the cDNA that encodes the Xenopus laevis treacle was cloned. Although the derived amino acid sequence shows a poor homology with its mammalian orthologues, Xenopus treacle has 11 highly homologous direct repeats near the center of the protein molecule similar to those present in its human, dog and mouse orthologues. Comparison of their amino acid compositions indicates conservation of predominant specific amino acid residues. Antisense-mediated down-regulation of treacle expression in X. laevis oocytes resulted in inhibition of rDNA gene transcription. The results suggest evolutionary conservation of the function of treacle in ribosomal RNA biogenesis in higher eukaryotes.

Amino Acid Sequence↗
PubMed2005

A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction.

Treacher Collins syndrome (TCS) is an autosomal dominant craniofacial malformation caused by null mutations in the TCOF1 gene. High inter and intra familial clinical variability, ranging from mild malar hypoplasia to perinatal death due to airway collapse is observed, but, to date, no genotype-phenotype correlation has been reported. Considering haploinsufficiency as the molecular mechanism underlying the disease, we have hypothesized that mutations in the promoter region of the gene, which has never been previously characterized, in trans with a pathogenic mutation, could modulate the phenotype. Therefore, the aims of the present study were to determine the TCOF1 gene's core promoter and to identify mutations in this region that could contribute to the phenotypic variation observed in this syndrome. We have delimitated the minimal promoter to a region of less than 150 bp, with 63% of identity among 5 different species. We screened 1.2 kbp of the TCOF1 5' flanking sequence in the DNA obtained from 21 patients and 51 controls and identified four new single nucleotide polymorphisms (SNPs), one of which (-346C>T), was proved to be functional, as it decreased the promoter activity by 38%. Electrophoretic mobility shift assay (EMSA) analysis demonstrated that the -346T allele impairs DNA-binding to the YY1 transcription factor. This promoter variant represents a candidate allele to explain the clinical variability in patients bearing TCS.

Alleles↗
PubMed2005

The Rotterdam Palatal Distractor: introduction of the new bone-borne device and report of the pilot study.

Transverse maxillary hypoplasia, in adolescents and adults, is frequently seen as an acquired deformity and in congenital deformities patients and can be corrected by means of surgically assisted rapid maxillary expansion. Traditionally, the distractors for expansion are tooth-borne devices, i.e. hyrax appliances, which may have some serious disadvantages such as tooth tipping, cortical fenestration, skeletal relapse and loss of anchorage. In contrast, with bone-borne distractors most of the maxillary expansion is orthopedic and at a more mechanically desired level with less dental side effects. A new bone-borne palatal distractor has been developed. By activation the nails of the abutments plates automatically stabilizes the device and no screw fixation is necessary anymore. This new distractor is presented and the data of five acquired deformity and eight congenital deformity patients that were treated with this distractor are reported.

Acrocephalosyndactylia↗
PubMed2003

Aplasia of zygomatic arch and dislocation of temporomandibular joint capsule in Treacher-Collins syndrome: three-dimensional reconstruction of computed tomographic scans.

Seven patients with Treacher-Collins syndrome were studied. All of patients were children or teenagers. Helical CT scanner (Toshiba) was used to reconstruct zygomatic arch and temporomandibular joint capsule on lateral aspect of temporal bone in five patients of microtia and atresia of both ears and two patients of narrow ear canals of both ears without microtia.Three-dimensional reconstructions of computed tomography on lateral aspect of temporal bone demonstrated various congenital abnormality including aplasia of zygomatic arch in seven patients and dislocation of temporomandibular joint capsule in seven patients.

Adolescent↗
PubMed2005

Accidental choking in a patient with Treacher Collins syndrome.

A 3-year-old boy with Treacher Collins syndrome had undergone tracheostomy and placement of a secured cannula at the age of 4 months. When he was 3 years old, he manually extracted the secured cannula by himself and choked to death. Autopsy revealed upper airway obstruction with posterior deviation and mucosal hyperplasia of the radix linguae, mandibular hyperplasia, and occlusion of the artifical airway owing to intratracheal granuloma due to the long-standing tracheotomy. For safe, long-term use of a tracheostomy to maintain the airway, children with craniofacial abnormalities should be carefully supervised by their families to prevent accidental decannulation.

Accidents↗