PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “MANDIBULOFACIAL DYSOSTOSIS”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

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

At least 37 records · Page 2Linked to original sources
PubMedDate not supplied

The otologic manifestations of mandibulofacial dysostosis.

Sixteen patients (32 ears) with diagnoses of mandibulofacial dysostosis were reviewed. The characteristic otologic manifestations of the syndrome were delineated, found to be bilateral, and consist of the following: 1. Mild symmetric deformity of the auricle (grade 1 microtia). 2. Agenesis or hypoplastic development of the mastoid and mastoid antrum. 3. Absence of the external auditory canal. 4. Marked narrowing or agenesis of the middle ear cleft. 5. Agenesis or severe malformation of the malleus and incus. When present, the malleus and incus are most often rudimentary, fused to form a conglomerate mass, and ankylosed to either the atretic plate, epitympanum, or both. 6. Stapedial malformations which usually consist of a deformed suprastructure. 7. Frequently the tegmen assumes a more inferior (low lying) position than normal. 8. Occasionally, the facial nerve pursues an abnormal course and is located more anteriorly than would be expected. 9. A normal inner ear. 10. Normal bone conduction with a marked (greater than 50 dB) conductive hearing loss. 11. Marked disparity between the degree of auricular deformity (mild; grade 1 microtia) and the degree of deformity of the remaining first and second branchial arch derivatives that constitute the external and middle ears (severe).

Adolescent↗
PubMedDate not supplied

[Mandibulofacial dysostosis or Franceschetti-Zwahlen-Klein syndrome: apropos of 2 cases].

The Authors report two cases of mandibulofacial dysostosis: a three-months-old girl who presented with palpebral fissures in an antimongoloid direction, cleft palate, coloboma of the lower lid, hypoplasia of the malar bones and mandible, malformation of the external ears, two clefts between the mouth and left ear, minimal naso-frontal angle and a one-month-old boy who presented with similar structural deformities. These features can be considered characteristic of mandibulofacial dysostosis, whose most common finding is the presence of bilateral signs.

Female↗
PubMed2001

Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome?

We report two brothers who presented with mandibulofacial dysostosis, growth retardation, microcephaly, thoracic deformities and conductive hearing loss along with asplenia in one case and aplasia of the gallbladder in the other. The pattern of malformations differs significantly from established syndromes with mandibulofacial dysostosis such as Nager syndrome or Genée-Wiedemann syndrome and also from cerebro-costo-mandibular syndrome. As chromosome analysis revealed normal male karyotypes, we consider this to be a distinct heritable syndrome that may be either autosomal recessive or X-chromosomal recessive.

Abnormalities, Multiple↗
PubMed1984

Radiographic features of the ear-related developmental anomalies in patients with mandibulofacial dysostosis.

Among the conditions that arise from disturbances in development of the first two branchial arches, the symmetric syndrome of mandibulofacial dysostosis and the asymmetric anomalies of the hemicraniofacial microsomia represent a characteristic pattern of craniofacial malformation distinct from other first and second arch syndromes. Since the usual embryonic aberration in both of these anomalies involves the first and second branchial arch derivatives, malformations of the external and middle ear are common. The external auditory canal is absent in the vast majority of the cases. Incudomallear deformities are usually present. In this paper, radiographic analysis of the ear-related developmental anomalies of 17 patients with mandibulofacial dysostosis is described.

Adolescent↗
PubMed1996

Radiocephalometric evaluation of a family with mandibulofacial dysostosis.

Persons from four generations of a family with mandibulofacial dysostosis (MFD), known as Treacher Collins (TC) Syndrome, were examined for the presence of clinical signs traditionally associated with this syndrome. In this family, 14 adults, who had been judged trait bearers by an earlier family study were included in this study. Maxillary and mandibular study models were taken of affected and unaffected family members. Panoramic cephalograms and lateral radiographs were taken. The lateral cephalograms were traced and digitized on a computer system and compared. The 117 cephalometric values of the trait bearers were compared with known standard values and nontrait bearing family members. In the trait bearing group, 81 of the 117 values and, in the nontrait bearing group, 72 of the 117 values were significantly different (p < 0.05) when comparing mean values to the accepted normal range. The interfamily comparison between trait-bearing and nontrait members revealed nine values to be significantly different. This indicates that cephalometric analysis of these patients, some of whom have minimal clinical expression of the gene, may have potential value for screening and further characterization of this condition. The results also suggest that intrafamily comparisons may be of greater value for diagnostic confirmation of TC than comparison with literature norms.

Adult↗
PubMed1981

Ossification defects and craniofacial morphology in incomplete forms of mandibulofacial dysostosis. A description of two dry skulls.

The morphology of two East Indian dry skulls exhibiting anomalies which were suggested to represent incomplete forms of mandibulofacial dysostosis is described. Obvious although minor ossification anomalies were found localized to the temporal, sphenoid, the zygomatic, the maxillary and the mandibular bones. The observations substantiate the concept of the regional and bilateral nature of the malformation syndrome. Bilateral orbital deviations, hypoplasia of the malar bones, and incomplete zygomatic arches appear to be hard tissue aberrations which may be helpful in examination for subclinical carrier status. Changes in mandibular morphology seem to be less distinguishing features in incomplete or abortive types of mandibulofacial dysostosis.

Adult↗
PubMed2006

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.

We report on two new Brazilian cases and reviewed two previously reported patients with a characteristic combination of signs including mandibulofacial dysostosis, a clinical suggestion of trigonocephaly, microcephaly, unusual ears with skin tags, and cleft palate. Follow-up of these patients revealed growth and mental retardation, and severe language and speech delay. A review of the literature and database programs did not find any syndromes that matched this constellation of findings. We believe that this combination of signs represents a new mandibulofacial dysostosis syndrome whose etiology is unknown.

Abnormalities, Multiple↗
PubMed1986

The skeletal anatomy of mandibulofacial dysostosis (Treacher Collins syndrome).

Three-dimensional osseous surface re-formation imaging from CT scans was used to examine the facial skeletons of 14 living patients with mandibulofacial dysostosis. Partial to complete aplasia of the zygomatic process of the temporal bone, mild hypoplasia to aplasia of the frontal process of the zygoma, antimongoloid slant of the transverse orbital axis, and hypoplasia of the medial pterygoid plates and muscles are common to all patients examined. Deformities of the zygoma, zygomatic process of the frontal bone, mandible, and lateral pterygoid plates and muscles vary from minimal to severe, including aplasia. The body of the zygoma is the least affected part of the bone. Right-left asymmetry characterizes these deformities in all patients. The most consistent skeletal aplasia (cleft) in mandibulofacial dysostosis involves the zygomatic process of the temporal bone rather than the zygoma itself.

Adolescent↗
PubMed2000

Mandibulofacial dysostosis: CT evaluation of the temporal bones for surgical risk assessment in patients of bilateral aural atresia.

We present the results of detailed CT investigation of nine patients with mandibulofacial dysostosis (MFD). We also graded the severity of microtia according to Marx's classification system. The results revealed a positive correlation between the severity of microtia and the severity of deformity of the external auditory canal, and attic formation. In 13 ears, the stapes was not adequately visualized to allow any comment on its form. The angle of the first genu of the facial nerve ranged from 55.0 to 123.6 degrees (mean +/-S.D.; 99.5 +/-18.5 degrees ), indicating that this angle is more obtuse in MFD patients than in normal subjects. The eustachian tube and tympanic sinus were present in all the ears examined. None of the patients had mastoid pneumatization. In four ears, the lateral semicircular canal was dysplastic. Eleven ears of six patients scored less than 5 in the grading system developed by Jahrsdoerfer for assessment of the suitability for atresia surgery. These findings indicate that most patients with mandibulofacial dysostosis are poor surgical candidates.

Child, Preschool↗
PubMed1977

Prenatal mandibulofacial dysostosis (Treacher Collins syndrome).

The clinical, radiographic, and histologic aspects of Mandibulofacial Dysostosis (Treacher Collins Syndrome)--MFD--are described as observed in a human fetus of approximately 15 weeks gestation age. Findings in the present study do not differ significantly from those previously reported, as the abnormal fetus exhibited the peculiar ocular, otic, and mandibular defects common in descriptions of postnatal survivors. Although exhibiting the major signs and symptoms of MFD even at this early developmental stage, previously unreported relationships dealing with the ossification of the mandible and salivary gland hyperplasia are noted. Contrary to expectation, vascularization appears excessive. The pathogenesis of the events leading to the deformities of the first and second branchial arches is extrapolated to seven weeks in utero.

Arteries↗
PubMed1986

The mandible in mandibulofacial dysostosis: a cephalometric study.

The lower border of the mandible in mandibulofacial dysostosis is characteristic of the syndrome. Evaluation of the cephalograms by means of the medial axis analysis and inflectional tangents captures the shape deformity. Morphometric data from lateral cephalograms on seven patients, ages 3 through 20 years, are reported: a total of 22 observations on three males and four females. These forms were compared to normal mandibular forms from the University of Michigan University School Study. The curvature of the gonial angle in the study population is not distinguishable from the normal curvature. Relative to this apparently normal region, there is a marked downward displacement of the symphysis that results in the curvature typical of the lower mandibular border in this syndrome. These findings are not consistent with earlier reports.

Adolescent↗
PubMed1980

A comparison of microtia and temporal bone anomalies in hemifacial microsomia and mandibulofacial dysostosis.

A number of entities can be categorized as otocraniofacial syndromes. New clinical and laboratory studies have demonstrated predictable patterns of occurrence, distinct anatomic interrelationships, separate genetic predispositions, and animal models of the varied embryogeneses. These investigations have allowed clinical separation of first and second branchial arch anomalies into syndromes of hemifacial microsomia and mandibulofacial dysostosis. The present study has established a relationship between the severity of the microtic auricle and middle ear malformation in those syndromes. Middle ear deformities, while present in both, are more severe when associated with mandibulofacial dysostosis.

Ear, External↗
PubMed1975

A morphologic description of a dry skull with mandibulofacial dysostosis.

The morphology of an East Indian, dry skull exhibiting the characteristics of mandibulofacial dysostosis (MFD) is described. The skull was small, but the shape of the calvarium was essentially normal. Extensive anomalies were registered in the sphenoid bone, the temporal bone, the zygomatic bone, the maxilla, and the mandible. A lateral cephalometric radiograph of the skull was compared with a mean value diagram of adult Danish males in order to illustrate the morphologic aberrations of the MFD skull. The etiology and pathogenesis of the syndrome are disucssed.

Humans↗
PubMed1976

Cleft palate and congenital palatopharyngeal incompetency in mandibulofacial dysostosis: frequency and problems in treatment.

In a series of 25 cases of mandibulofacial dysostosis, 7 patients had isolated clefts of the palate, 1 had a complete unilateral cleft of the lip and palate, and 8 had congenital palatopharyngeal incompetency (CPI). The CPI appeared in four forms: (a) complete agenesis of the soft palate, (b) foreshortening of the soft palate associated with a submucous defect of the hard palate, (c) submucous defect of the hard palate with adequate palatal length but inadequate elevation in speech, and (d) lack of adequate palatal elevation in the absence of a submucous defect or reduced length of the soft palate. Inadequate velopharyngeal function, whether congenital or subsequent to palatal repair, may be masked by the presence of other speech problems in this syndrome, particularly by the "muffled" voice quality which appears to be associated with an elevated and retracted tongue posture. Both prosthetic and surgical treatment of inadequate velopharyngeal function are complicated in patients with MFD by other structural anomalies, particularly inadequate oral opening and constriction of the airway.

Cleft Palate↗
PubMed1998

[Mandibulofacial dysostosis].

Also known as Treacher-Collins or Franceschetti-Zwahlen-Klein syndrome, the mandibulofacial dysostosis is characterized by bilateral involvement of facial structures, including malar and mandibular hypoplasia, underdeveloped zygomatic bone, antimongoloid slant and external and middle ear anomalies. The syndrome is inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity. The authors report the case of a 19-years-old patient with characteristic cranio-facial malformations.

Abnormalities, Multiple↗