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At least 937 records · Page 52Linked to original sources
PubMed2005

New hope for Treacher-Collins syndrome: a surgical case report.

The objective of this case report is to discuss the possibility of developing a surgical treatment paradigm for patients with some of the noted characteristics of Treacher-Collins syndrome, mainly mandibular ankylosis and/or retrognathia (mandibular retrusion), in a way that would provide lasting, predictable results and minimize the frequently seen mandibular ankylosis. Through various medical imaging techniques, mainly computed tomography (CT) scan, the radiology imaging technologist produces accurate CT scan images of the particular patient's osseous cranial structures. These images can then be used by the stereolithography (SLA) technician to construct accurate SLA models. The SLA models can then be used by the surgical and implant design team to not only prescribe the surgical correction necessary, but also design and construct the actual temporomandibular joint (TMJ) and mandibular implants, as well as perform mock surgery, which will be needed to restore function and esthetics for the patient. The early results from this alloplastic reconstructive surgery have provided the anticipated results of relieving the ankylosis, improving jaw function and frequently dental occlusion, as well as improving the esthetics. Without this breakthrough surgical development, many of these Treacher-Collins syndrome patients will not be able to enjoy normal breathing, mastication, jaw function, esthetics, oral and dental health, and the emotional relief these corrections allow. Many patients who suffer the disfiguring and functionally damaging affects of Treacher-Collins syndrome never receive the surgical correction necessary. Many have had autogenous reconstruction of missing mandibular and TMJ structures, only to sometimes relapse into a more disfiguring and lasting condition. By simply placing a Christensen Fossa-Eminence Prosthesis(r) (TMJ Implants, Inc., Golden CO, USA) between the cranial base and any bone graft, one is more likely to achieve satisfactory TMJ mobility. If a condylar or mandibular reconstruction is necessary, the Christensen Total TMJ Prostheses(r) (TMJ Implants, Inc., Golden CO, USA) are available and provide excellent results.

Adult↗
PubMed2006

[Diagnostic value of multi-slice spiral CT three dimensional reconstruction in maxillofacial diseases].

OBJECTIVE: To evaluate the diagnostic value of multi-slice spiral CT (MSCT) three dimensional (3D) reconstruction for maxillofacial diseases. METHODS: Sixty patients with maxillofacial diseases underwent the scanning of MSCT with 3D reconstruction. Among them, 34 patients with maxillofacial fracture, 10 patients with maxillofacial tumors and tumor-like diseases, and 16 patients with congenital deformities. The MSCT scanned with slice thickness of 2 mm. The methods of 3D reconstruction included multi-planar reconstruction (MPR), shaded surface display (SSD), and volume rendering (VR). The results were compared with what was observed during operations. RESULTS: Totally 36 cases of maxillofacial fracture were shown by 2D or 3D imaging and were validated by the observations during operation. The MSCT with 3D reconstruction imaging was significantly superior to 2D axial imaging in maxillofacial fracture. Three dimensional imaging could clearly show the spacial anatomy of facial, fragment displacement, and tracing fracture lines. However, 2D imaging had better effectiveness than 3D imaging in observing deep structure and fine fracture. In maxillofacial tumors and tumor-like diseases, 3D imaging was significantly superior to 2D axial imaging in showing the tumor shape and spacial relationships between tumors and surrounding structures. Two dimensional imaging and MPR imaging were excellent to reveal internal structure and pathological changes of tumors. 2D imaging and MPR imaging also achieved better results in showing tumors extended to soft tissues. In maxillofacial congenital deformities, 3D imaging were superior than 2D imaging. CONCLUSION: 3D imaging has an important value in the diagnosis and clinical assessment of maxillofacial fracture, tumor-like diseases, and congenital deformities.

Adolescent↗
PubMed2006

Introduction to genetics for otorhinolaryngology nurses.

Advances in human genetics have led to considerable changes in the way health professionals, especially nurses, understand and care for their patients. This article is focused on the clinical implications of genetic aspects of conditions of the head and neck, written for otorhinolaryngology (ORL) and head-neck nurses, but relevant for other nurses as well. This article presents information about basic inheritance patterns (autosomal dominant and recessive, X-linked, and mitochondrial) and compares single-gene disorders to complex or mutifactorial diseases. Cleft lip and palate disorders (Robin sequence and Van der Woude syndrome) and other craniofacial conditions (craniosynostosis, Treacher-Collins syndrome, and velo-cardio-facial syndrome) are discussed along with non-syndromic and syndromic hearing loss. Discussion of the psychosocial aspects of genetic conditions of the head and neck and a glossary of genetic terms are included.

Cleft Lip↗
PubMed1991

Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions.

Treacher Collins syndrome (TCS) is an autosomal dominant defect of craniofacial development which has not been chromosomally localized. We have identified a mother and two children who have TCS and also a balanced translocation t(6;16)(p21.31;p13.11), which suggested the possibility that the TCS locus might be located at one of the translocation breakpoints. These were defined by in-situ hybridization as 6p21.31 (by using loci in the HLA complex defined by the probes p45.1DP beta 003/HLA-DPB2 and pRS5.10/HLA class I chain) and 16p13.11 (by using probes pACHF1.3.2/D16S8 and VK45/D16S131). Pairwise and multipoint linkage analysis using localized chromosome 6 probes and chromosome 16 probes in 12 unrelated TCS families with multiple affected siblings excluded the TCS locus from proximity to both translocation breakpoints. These data were confirmed when a third affected child, who did not exhibit the translocation, was born to the mother.

Chromosome Banding↗
PubMed1991

The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, the features of which include conductive hearing loss and cleft palate. We have studied 12 unrelated TCS families with multiple affected individuals for linkage to five chromosome 5 markers. There is strong evidence demonstrating linkage to three of these markers. Multipoint linkage analysis places the mutation causing TCS in the interval between the gene for the glucocorticoid receptor and the anonymous marker D5S22, with a maximum multipoint lod score of 9.1.

Chromosome Mapping↗
PubMed2006

[Treacher Collins syndrome: case report and literature review].

OBJECTIVE: To study the genetic background, clinical features, diagnosis, management, and prenatal testing and counseling of Treacher Collins syndrome (TCS). METHOD: The clinical data of a patient and his mother suffering from TCS was reported and the relevant literatures were also reviewed. RESULT: TCS is an autosomal dominant disorder characterized by craniofacial mal-development, including antimongoloid slant of the eyes, micrognathia, microtia and other deformity of the ears. TCS results from the mutation in TCOF1 gene (Treacher Collins-Franceschetti Syndrome gene), located in 5q32-q33.1. Diagnosis of TCS is made through clinical evaluation, radiographic examination, and molecular genetic analysis. Treatment is tailored to the specific needs of each individual by a multidisciplinary craniofacial management team. The choosing of optimal operation time and method is very important. Prenatal testing and genetic counseling for risky pregnancy is necessary. CONCLUSION: The stepwise regimen of treatment is craniofacial reconstruction, orthognathic procedures, orthodontic alignment of the teeth, nasal reconstruction, external ear reconstruction and external auditory canal and middle ear reconstruction.

Female↗
PubMed2007

Dental and facial bone abnormalities in pyknodysostosis: CT findings.

Pyknodysostosis is an autosomal-recessive disorder of osteoclast dysfunction causing osteosclerosis, with associated maxillofacial anomalies. Multidetector CT with multiplanar and 3D reconstruction illustrated the pathologic findings in this case. Abnormalities included multiple retained deciduous teeth, unerupted teeth with associated follicles, an irregularly expanded alveolus and body of the mandible, and an obtuse mandibular angle. Volume-rendered imaging better delineated the irregular dentition, with crowding and retention of deciduous teeth.

Adult↗
PubMed2006

Fiberoptic tracheal intubation through a classicial laryngeal mask airway under spontaneous ventilation in a child with Treacher Collins syndrome.

This report cites the usefulness of fiberoptic scope-guided endotracheal tube intubation through a classical laryngeal mask airway (LMA) during spontaneous breathing. Treacher Collins Syndrome (TCS) is a condition where airway management is stressful to anesthesiologists. We report a pediatric patient with TCS undergoing cleft palate repair. The patient had a history of sleep apnea syndrome, chronic lung disease, and congenital heart disease. Intubation by rigid laryngoscopy was unsuccessful at the first attempt. One month later, under spontaneous ventilation, tracheal intubation was smoothly performed with the use of a fiberoptic scope through an LMA under intravenous anesthesia with propofol. Fiberoptic scope-guided endotracheal intubation through an LMA with the push of another ETT of the same size to curb the back slippage of the endotracheal tube already inserted in the trachea can be easily and safely performed under spontaneous breathing in a pediatric patient with TCS.

Bronchoscopy↗
PubMed1991

Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3.

Treacher Collins syndrome is an autosomal dominant disorder of abnormal craniofacial development. Linkage analysis was performed in Treacher Collins families with restriction fragment length or microsatellite polymorphisms associated with eight loci previously mapped to 5q31----qter. Positive lod scores were obtained for four loci, D5S119, D5S207, D5S209, and D5S210, which map to 5q31.3----q33.3. The Treacher Collins syndrome locus was linked closest to locus D5S210, which is associated with microsatellite polymorphisms, with a maximum lod score of 8.65 at theta = 0.02. The Treacher Collins syndrome locus was excluded from locus ADRB2R, which maps to 5q31----q32, and loci D5S22, D5S61, and D5S43, which map to 5q34----qter. There was no evidence for genetic heterogeneity among eight families with variable expression of the condition.

Chromosome Mapping↗
PubMed1977

[Genetic syndromes of multiple congenital developmental defects].

Analysis of developmental defects in 615 children who had died in hospitals in Minsk during the 5-year period (1971--1975)showed that in 274 children defects were multiple. This number includes 78 children with chromosomal diseases and 37 children with genic syndromes of multiple congenital malformations (MCM). The total number of genic syndromes of MCM is extremely great, at present over 250 of them are known. Analysis of the available literature and the authors' own findings made it possible to develop criteria of morphological diagnosis of genic syndromes of MCM with due account for different diagnostic significance of various defects. Genealogical studies and estimation of population incidence of individual malformations are also necessary for diagnosis of genic syndromes of MCM and identification of new syndromes. An etiological classification of MCM and that of genic syndromes of MCM are considered on the basis of isolation of similar clinical forms, which are of important for differential diagnosis.

Abnormalities, Multiple↗