Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “MANDIBULOFACIAL DYSOSTOSIS”

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 847 records · Page 47Linked to original sources
PubMed2003

Fiberoptic tracheal intubation through a laryngeal mask airway in a child with Treacher Collins syndrome.

Treacher Collins syndrome (TCS) is a rare inherited condition characterized by bilateral and symmetric abnormalities of structures within the first and second bronchial arches. The mechanism of inheritance is autosomal dominant with variable expressivity. Because of this variability in expression, some affected individuals exhibit virtually no overt clinical manifestations. However, most children with TCS present with the following classic facial features: down-sloping palpebral fissures, colobomata of the lower eyelid, scanty lower eyelashes, malar hypoplasia, and micro- or retrognathia. Cleft palate is present in up to 35% of patients and an additional 30-40% have congenital palatopharyngeal incompetence. Abnormalities of the ear are very common and vary from minor malformations to severe microtia and hearing loss. Hearing loss may be due to atresia of the auditory canals or ossicular malformation of the middle ear. Despite these many development abnormalities, TCS patients are usually of normal intelligence. We report the case of a 3 1/2-yr-old patient with TCS undergoing cleft palate repair and discuss fiberoptic intubation through a laryngeal mask airway using two endotracheal (ETT) tubes secured via an ETT connector.

Bronchoscopes↗
PubMed1988

Teratogens and craniofacial malformations: relationships to cell death.

Environmental agents including ethanol, 13-cis retinoic acid (RA, Accutane), the antimetabolite methotrexate, periods of hypoxia, ionizing radiation or hyperthermic stress, when administered acutely to pregnant experimental animals, induce stage-dependent craniofacial malformations comparable to those in corresponding human teratogen syndromes. Acute treatment regimens have allowed analysis of cell populations initially affected and subsequent dysmorphogenetic sequences as well as speculation relative to mechanisms of teratogenesis. In rodent models, ethanol and RA appear to affect similar cell populations and comparable malformations can be induced by both agents. When administered during gastrulation they cause a major insult to the anterior neural plate which results in characteristic ocular, brain and facial malformations comparable to those seen in the fetal alcohol syndrome. Exposure to these drugs at a time just prior to and during neural crest cell migration into the craniofacial and cervical regions results in malformations comparable to those seen in the Di-George sequence and/or retinoic acid embryopathy. Slightly later, at the time that the epibranchial placodes are active, insult results in mandibulofacial dysostosis-like syndromes. We propose that the pattern of these malformations is related to the particular vulnerability of cells in the vicinity of normal programmed cell death. Cell death is also associated with ionizing radiation and hyperthermia-induced malformations. Both of these teratogens are particularly damaging to the early development of the eye and central nervous system. Teratogenic temperature elevations result in arrest of mitotic activity and death of cells in mitosis. Hypoxia is also associated with cell death in specific regions and subsequent malformation. For example, death of cells in the invaginating olfactory placode has recently been associated with cleft lip formation. The relationship of hypoxia-induced cell death to energy requirements is being explored. Acute treatment with methotrexate results in frontonasal dysplasia (median facial clefts). Combined effects of fluid imbalance, lack of proliferation or death of frontonasal mesenchyme appear to be involved. Although the mechanisms of craniofacial malformation are complex, a common feature for many is excessive cell death for which the embryo may be unable to compensate. Excessive cell death in regions of programmed cell death represents an important, yet little appreciated, mechanism of teratogenesis.

Animals↗
PubMed2003

External auditory canal duplication anomalies associated with congenital aural atresia.

Maldevelopment of the first branchial cleft can produce a broad spectrum of anomalies in its derivative structure, the external auditory canal (EAC). Failure of the cleft to develop normally can result in either the absence of a normally patent EAC (atresia, or stenosis) or a duplication anomaly (cyst, sinus, or fistula). Despite their common origins, the coexistence of these anatomical abnormalities is quite unusual. We present four patients with both aural atresia and duplication anomalies of the EAC. Three patients had non-syndromic unilateral aural atresia and presented with periauricular lesions originating from the first branchial cleft. The other patient had a variant of Treacher Collins syndrome and presented with draining infra-auricular fistulae. The classification and management of first branchial cleft anomalies is reviewed in light of these cases. An understanding of the embryogenesis of the external ear is necessary to successfully recognize and treat this spectrum of deformities. A classification system is presented that encompasses the full spectrum of first cleft anomalies.

Adult↗
PubMed2004

Bony overgrowth onto fixture component of a bone-anchored hearing aid.

An eight-year-old boy with Treacher Collins syndrome was fitted with a bone-anchored hearing aid. The audiometric result was excellent. Two years later, the abutment began to loosen and could not be tightened. It was thought that a new fixture would be required, with loss of use of the aid for three months. At surgery, bone was found to be growing over the hexagonal joint between fixture and abutment. A simple and rapid solution to this problem is described.

Bone Conduction↗
PubMed1980

Surgical correction of Goldenhar's syndrome.

Goldenhar's syndrome is a variant of hemifacial microsomia - one of the more common congenital syndromes of the first and second arch. The Goldenhar's type is characterized by varying degrees of underdevelopment of craniofacial structures. The major deformities involve the mandible and the ear; but they also include the orbit and vertebral column, specific defects pathognomonic of this condition. Medical management requires reconstructive surgery of which treatment must take into consideration the timing of surgery and the effects of surgery upon the growth and development of the poorly formed structures. This paper presents a discussion of the pathogenesis and the favorable and unfavorable factors affecting the selection and timing of surgery. The literature is reviewed and two additional cases are added with an evaluation of the effects of early reconstruction. A single-stage procedure, utilizing rib autograft, is described for correction of the defective hemimandible, glenoid fossa, and zygoma. The results are evaluated by means of photographs and radiographs with a follow-up period of at least one and one-half years. The data suggest a remodeling of the grafts to resemble normal structures, and a downward growth of the maxilla to fill a space created by the reconstruction of the mandible and expansion of the lower portion of the face. Multiple stages of surgery as well as unnecessary delays in performing surgical procedures are challenged by the report.

Child↗
PubMed2001

Syndromic ear anomalies and renal ultrasounds.

OBJECTIVE: Although many pediatricians pursue renal ultrasonography when patients are noted to have external ear malformations, there is much confusion over which specific ear malformations do and do not require imaging. The objective of this study was to delineate characteristics of a child with external ear malformations that suggest a greater risk of renal anomalies. We highlight several multiple congenital anomaly (MCA) syndromes that should be considered in a patient who has both ear and renal anomalies. METHODS: Charts of patients who had ear anomalies and were seen for clinical genetics evaluations between 1981 and 2000 at Cedars-Sinai Medical Center in Los Angeles and Dartmouth-Hitchcock Medical Center in New Hampshire were reviewed retrospectively. Only patients who underwent renal ultrasound were included in the chart review. The literature was reviewed for the epidemiology of renal anomalies in the general population and in MCA syndromes with external ear anomalies. We defined a child as having an external ear anomaly when he or she had any of the following: preauricular pits and tags; microtia; anotia; or cup, lop, and other forms of dysplastic ears. A child was defined as having a renal anomaly if an ultrasound revealed any of the following: unilateral or bilateral renal agenesis; hypoplasia; crossed ectopia; horseshoe, pelvic, cystic kidney; hydronephrosis; duplicated ureters; megaureter; or vesicoureteric reflux. RESULTS: Because clinical genetics assessments were made by the same clinician at both sites (J.M.G.), data were combined. A total of 42 patients with ear anomalies received renal ultrasound; 12 (29%) of them displayed renal anomalies. Of the 12 patients with renal anomalies, 11 (92%) also received a diagnosis of MCA syndrome. Eleven of 33 patients (33%) with MCA syndromes had renal anomalies, whereas 1 of 9 patients (11%) with isolated ear anomalies had renal anomalies. Specific disorders seen were CHARGE association, Townes-Brocks syndrome, branchio-oto-renal syndrome, Nager syndrome, and diabetic embryopathy. CONCLUSIONS: We conclude that ear malformations are associated with an increased frequency of clinically significant structural renal anomalies compared with the general population. This is due to the observation that auricular malformations often are associated with specific MCA syndromes that have high incidences of renal anomalies. These include CHARGE association, Townes-Brocks syndrome, branchio-oto-renal syndrome, Nager syndrome, Miller syndrome, and diabetic embryopathy. Patients with auricular anomalies should be assessed carefully for accompanying dysmorphic features, including facial asymmetry; colobomas of the lid, iris, and retina; choanal atresia; jaw hypoplasia; branchial cysts or sinuses; cardiac murmurs; distal limb anomalies; and imperforate or anteriorly placed anus. If any of these features are present, then a renal ultrasound is useful not only in discovering renal anomalies but also in the diagnosis and management of MCA syndromes themselves. A renal ultrasound should be performed in patients with isolated preauricular pits, cup ears, or any other ear anomaly accompanied by 1 or more of the following: other malformations or dysmorphic features, a family history of deafness, auricular and/or renal malformations, or a maternal history of gestational diabetes. In the absence of these findings, renal ultrasonography is not indicated.

Abnormalities, Multiple↗
PubMed2004

Adolescents' perspectives on living and growing up with Treacher Collins syndrome: a qualitative study.

OBJECTIVE: This study explored the experiences and essences of growing up and living with Treacher Collins syndrome (TCS) from an adolescent perspective. DESIGN: A qualitative approach using the long interview method was used to explore the adolescents' experiences. Semistructured interviews and peer debriefing techniques were used to gather and verify data with each participant. PARTICIPANTS: A purposive sampling technique was used to recruit a sample of six adolescents with TCS, ranging in age from 12 to 18 years, who received care from a craniofacial center in a large pediatric hospital. RESULTS: The themes central to the adolescents' experiences were balancing sameness and difference and the journey toward social and self-acceptance. Five subthemes further described this experience: reconstructing perceptions of others; making meaning of the difference; forming friendships and fitting in; handling staring and teasing; and excelling. CONCLUSIONS: The study group described good psychosocial adjustment, experienced an increasing acceptance of self, TCS, and social acceptance over time and demonstrated resilient adaptive strategies (optimism, motivation, and positive meaning making). They were, however, also challenged by the social stigma associated with difference and by the challenges of finding a good fit in their school environments in meeting unique needs, particularly in their early grades. This study highlights the value of using a qualitative research approach in furthering our understanding of the experiences of children and youth with facial differences.

Adaptation, Psychological↗
PubMed2000

Treacher Collins syndrome: current evaluation, treatment, and future directions.

OBJECTIVE: Treacher Collins syndrome (TCS) is an inherited disorder in which there are general bilateral symmetric anomalies of the structures within the first and second branchial arches. In general, there is complete penetrance and variable expressivity of the trait. The craniofacial rehabilitation of a child with TCS is tailored to the extent of the deformities involved: the orbitozygomatic region, the maxillomandibular region, the nose, facial soft tissues, and external and middle ear structures. CONCLUSION: This article reviews the range of clinical features and specific dysmorphology observed in TCS. Functional and aesthetic objectives are discussed, and a comprehensive staged reconstructive approach is outlined, which may be used as a roadmap for treatment planning.

Adult↗
PubMed1991

Craniofacial morphology in Treacher Collins syndrome.

Treacher Collins syndrome is a rare but well studied autosomal dominant craniofacial malformation syndrome. Most reports to date have focused on the facial morphology of this distinctive syndrome, but several more recent investigations have described abnormalities of the basicranium, mandible, and upper airway. The purpose of this report is to describe craniofacial morphology in a sample population of 12 patients with Treacher Collins syndrome. A special emphasis is placed on cranial base and mandibular structure because of the airway problems often encountered in this syndrome.

Adolescent↗
PubMed1993

Ear malformation and hearing loss in patients with Treacher Collins syndrome.

Although the hearing loss of patients with Treacher Collins syndrome is well documented, few studies have reported jointly on their hearing loss and ear pathology. This paper reports on the hearing loss and computerized tomography (CT) assessments of ear malformations in a large pediatric series of patients with Treacher Collins. Of the 29 subjects assessed by the Craniofacial Program between 1986 and 1990, paired audiologic and complete CT assessments were available for 23 subjects. The external ear canal abnormalities were largely symmetric, either bilaterally stenotic or atretic. In most cases, the middle ear cavity was bilaterally hypoplastic and dysmorphic, and ossicles were symmetrically dysmorphic or missing. Inner ear structures were normal in all patients. The majority of patients had a unilateral or bilateral moderate or greater degree of hearing loss and almost half had an asymmetric hearing loss. The hearing loss of all subjects was conductive, except for three whose loss was bilateral mixed. Two types of bilaterally symmetric hearing loss configurations, flat and reverse sloping, were noted. Conductive hearing loss in patients with Treacher Collins is mainly attributable to their middle ear malformations, which are similar for those of patients with malformed or missing ossicles.

Adolescent↗
PubMed1995

Cranio-orbito-zygomatic measurements from standard CT scans in unoperated Treacher Collins syndrome patients: comparison with normal controls.

Fourteen reproducible cranio-orbito-zygomatic measurements taken from 26 standard axial computed tomographic (CT) scans of unoperated individuals with symmetric forms of Treacher Collins syndrome (TCS) were compared to age-matched controls. The interorbital measurements of the TCS patients were at the mean when compared to their cohort group (medial and lateral orbital wall separation), while the zygomatic measurements were significantly less than normal confirming the extent of malar hypoplasia. The congenitally deficient lateral aspect of the orbits in TCS patients was confirmed by the greater than normal values measured for globe protrusion and medial orbital wall protrusion in conjunction with the diminished lateral orbital wall lengths, all of which use the lateral orbital rim as a reference point. The abnormal shape of the anterior cranial vault in patients with TCS was documented as a diminished intercoronal distance (width) and decreased cephalic length when compared to normal age-matched controls.

Adolescent↗
PubMed1995

Planning mandibular distraction: preliminary report.

Normal lengths of the vertical ramus, body, and angle of the mandible at different ages are presented. Before mandibular distraction is embarked on, the extent of the deficiency of the mandible is assessed. The length of the vertical ramus and body are measured on cephalometric radiographs or three-dimensional computed tomography (3D CT) scans. Deficiency of the length of the mandible is calculated. The position of the pin placement angle (from the horizontal ramus) is calculated by means of the following formula: 180 degrees minus mandibular angle times vertical ramus deficiency divided by total deficiency. Placing the pins correctly will result in correction of the vertical ramus and body deficiency of the mandible and the excessively obtuse angle of the mandible will become more acute.

Bone Lengthening↗