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Results for “MANDIBULOFACIAL DYSOSTOSIS”

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PubMedDate not supplied

Asymmetry in mandibulofacial dysostosis.

Mandibulofacial dysostosis is an autosomal dominant malformation incorporating a number of facial and hearing defects. It has been regarded as a symmetrical problem with a central causative mechanism of malformation. Patients with this syndrome occasionally show a tendency toward asymmetry from birth to adolescence. Rat models showing similar facial defects have already been described. These phenocopies developed when the pregnant dam was given a dose of 100,000 units of vitamin A on day 8.5 day of gestation. This report describes the effects of a dose of 50,000 units given to the pregnant dam on day 8.5. An asymmetric deformity was produced which was similar to that occasionally seen in man. Macroscopic and microscopic observations distinguish the departures from normal development of the affected rats. Possible causal mechanisms are discussed.

Animals↗

PubMed1982

[Nager's acrofacial dysostosis (nager-de Reynier's acrofacial dysostosis syndrome). A hereditary mandibulofacial dysostosis with hypoplasia, of the extremities, especially of the thumb].

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Ear, External↗

PubMed2024

Dual diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly.

BACKGROUND: Achondroplasia and mandibulofacial dysostosis with microcephaly (MFDM) are rare monogenic, dominant disorders, caused by gain-of-function fibroblast growth factor receptor 3 (FGFR3) gene variants and loss-of-function elongation factor Tu GTP binding domain-containing 2 (EFTUD2) gene variants, respectively. The coexistence of two distinct Mendelian disorders in a single individual is uncommon and challenges the traditional paradigm of a single genetic disorder explaining a patient's symptoms, opening new avenues for diagnosis and management. CASE PRESENTATION: We present a case of a female patient initially diagnosed with achondroplasia due to a maternally inherited pathogenic FGFR3 variant. She was referred to our genetic department due to her unusually small head circumference and short stature, which were both significantly below the expected range for achondroplasia. Additional features included distinctive facial characteristics, significant speech delay, conductive hearing loss, and epilepsy. Given the complexity of her phenotype, she was recruited to the DDD (Deciphering Developmental Disorders) study and the 100,000 Genomes project for further investigation. Subsequent identification of a complex EFTUD2 intragenic rearrangement confirmed an additional diagnosis of mandibulofacial dysostosis with microcephaly (MFDM). CONCLUSION: This report presents the first case of a dual molecular diagnosis of achondroplasia and mandibulofacial dysostosis with microcephaly in the same patient. This case underscores the complexity of genetic diagnoses and the potential for coexistence of multiple genetic syndromes in a single patient. This case expands our understanding of the molecular basis of dual Mendelian disorders and highlights the importance of considering the possibility of dual molecular diagnoses in patients with phenotypic features that are not fully accounted for by their primary diagnosis.

Humans↗

PubMed1981

The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome).

Bilateral conductive deafness is common in mandibulofacial dysostosis with or without atresia of the external auditory meatus. This deafness is due to a wide range of deformities of the ossicular chain associated with a characteristic reduction in the size of the middle ear cavity. The attic and antrum are particularly affected and usually have a slit-like appearance on coronal section tomograms. The inner ear is essentially normal. The tomographic appearances of 44 ears from 22 patients with mandibulofacial dysostosis are described as well as the operative findings in 14. These were correlated with induced ear deformities in an animal model that had features characteristic of human mandibulofacial dysostosis. A review of the findings in the animal model suggests a very close correspondence with the human ear anomalies described at radiological investigation, operation and post-mortem examination. The lesions are largely symmetrical and this, with the characteristic slit attic, helps to differentiate mandibulofacial dysostosis from lesions with different aetiology but similar features such as facial microsomia. The prospects for surgical correction of the deafness in mandibulofacial dysostosis range from very good in mild cases with ossicular discontinuity, to poor where there is severe atresia. The importance of tomograms at an early age is stressed.

Animals↗

PubMed1992

Ear deformities in mandibulofacial dysostosis.

Abnormalities, Drug-Induced↗

PubMed2004

Orthodontic and surgical treatment of patients with congenital unilateral and bilateral mandibulofacial dysostosis.

AIM: Presentation of results following therapy of patients with different forms of mandibulofacial dysostosis. MATERIAL AND METHODS: Case reports of four patients, two with unilateral and two with bilateral mandibulofacial dysostosis, are presented. The symptoms and the problems involved in treatment are described. RESULTS: Protracted treatment resulted in improved facial symmetry, a harmonized profile, and acceptable occlusion. CONCLUSION: The rehabilitation of patients suffering from congenital facial malformations such as mandibulofacial dysostosis demands an experienced team of orthodontists and maxillofacial surgeons as well as persistence on the part of the patients and their families if good esthetic and functional results are to be achieved.

Adolescent↗

PubMed1993

Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance.

We report on mandibulofacial dysostosis in 2 brothers born to normal nonconsanguineous parents, and a girl (F = 1/16) born to normal consanguineous parents. Normal clinical, skeletal, audiologic, and cephalometric studies in the parents, as well as the absence of limb anomalies in these children, exclude the autosomal recessive (Nager and Genée-Widemann) mandibulofacial dysostoses. The data of the present patients associated with the few additional reports on mandibulofacial dysostosis recurring in sibs, suggest the possibility of an autosomal recessive Treacher Collins-like mandibulofacial dysostosis.

Adult↗

PubMed1990

Lacrimal drainage anomalies in mandibulofacial dysostosis.

Seven patients who had the complete form of mandibulofacial dysostosis were examined to determine the prevalence of nasolacrimal abnormalities. Bilateral inferior punctal atresia (and, by implication, accompanying inferior canalicular atresia) was identified in all seven patients; a 95% confidence interval for the true underlying rate of this finding in mandibulofacial dysostosis is 59% to 100%. Lacrimal surgery was required in only one patient who had coexistent bilateral nasolacrimal duct obstruction and chronic dacryocystitis and who responded well to bilateral dacryocystorhinostomy.

Adolescent↗

PubMed1993

Mild mandibulofacial dysostosis in a child with a deletion of 3p.

We report on a patient with mild mandibulofacial dysostosis and a small interstitial deletion of 3p, 46,XY,del(3)(p23p24.12). Linkage of Treacher Collins syndrome, the most common of the mandibulofacial dysostoses, to the 5q31.3-->q33.3 region of chromosome 5 has been established. This is the fourth report of a patient with mandibulofacial dysostosis with a chromosome abnormality outside the 5q31.3 area. Mandibulofacial dysostosis is a heterogeneous entity, and evaluation and counseling of affected individuals should be undertaken with caution.

Chromosome Banding↗

PubMedDate not supplied

Multi-facial anomalies in mandibulofacial dysostosis. A report of three cases.

Mandibulofacial dysostosis is readily recognized on the basis of a characteristic facial appearance caused by hard and soft tissue abnormalities of the face, including malformations of the ear. Generally, the abnormality is symmetrical. The psychological and social stigma associated with severe facial deformity makes this syndrome one of the most challenging reconstructive problems presented to the craniomaxillofacial surgeon.

Abnormalities, Multiple↗

PubMed1995

Mandibulofacial dysostosis. Case report.

A case of mandibulofacial dysostosis (Treacher Collins syndrome) is presented. Clinical features and skull radiographs revealed typical anomalies associated with the syndrome. Cleft of the soft palate and unerupted multiple supernumerary teeth were present in this case. No haematological, biochemical or immunological abnormalities could be detected in the patient. Pedigree analysis showed an autosomal dominant mode of transmission of the disease. Chromosomal studies did not reveal any structural or numerical discrepancies.

Adolescent↗

PubMed2002

Further delineation of mandibulofacial dysostosis: Toriello type.

We report a boy who presented with mild mandibulofacial dysostosis, growth retardation with microcephaly, bilateral hearing loss, thoracic deformity with a cardiac valvular lesion and bilateral cryptorchidism. The pattern of malformations differs from the classical Treacher Collins syndrome. We consider it to be mandibulofacial dysostosis (MFD), Toriello type with some additional features.

Adolescent↗

PubMed1975

The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis).

Numerous synonyms have been used to describe syndromes affecting structures derived from the first and second branchial arches. These conditions are most conveniently grouped into the asymmetrical anomalies of hemifacial microsomia and the symmetrical syndrome of mandibulofacial dysostosis. By examination of animal models of these conditions it can be demonstrated that the pathogenesis is distinct but different for each group. The characteristic facies of mandibulofacial dysostosis suggests a mechanism of malformation which operates early in embryogenesis, acting uniformly on parts which are derived from neural crest cells. In the serial examination of a phenocopy of mandibulofacial dysostosis, induced in the rat by the teratogen vitamin A, focal death of pre-otic neural crest cells is observed to occur, creating both a spatial rearrangement of the developing ears and a paucity of ectomesenchyme in the first and second branchial arches. The result of these deviations from normal morphogenesis is the development of a facial skeleton which is symmetrical but distinctly different in form from that in the normal animal. Microscopic study of the induced ear and jaw defects revealed that the animal model was closely comparable in all respects to human mandibulofacial dysostosis. The specific nature of the interaction between teratogen and migrating neural crest cells is not yet clear; nor is it known whether these cells are attacked before or after their specific destination is determined. The greater part of the damage is inflicted in a general fashion and leads to symmetrical abnormal development. Minor examples of dyssymmetry do occur, however, in the animal model and man, but these are compatible with the hypothesis of a pathogenetic mechanism which is initiated centrally and symmetrically but modified locally at a later stage. A description of the pathogenesis of these two conditions, scientific predictions can be made with respect to the timing and technique of reconstruction of the orofacial defects, and the effects of surgery on growth and development.

Abnormalities, Multiple↗

PubMed2005

Facial canal anatomy in patients with mandibulofacial dysostosis: comparison with respect to the severities of microtia and middle ear deformity.

OBJECTIVE: To study the difference in the facial canal anatomy in terms of the severity of microtia and deformity of the middle ear in patients with mandibulofacial dysostosis using high-resolution computed tomography. STUDY DESIGN: Retrospective analyses. SETTING: The study was carried out at the Department of Otorhinolaryngology, University of Tokyo, Tokyo, Japan. PATIENTS: Thirty-six ears of 18 patients with mandibulofacial dysostosis were examined by high-resolution computed tomography. These ears were graded based on the Marx classification and Jahrsdoerfer scoring systems. MAIN OUTCOME MEASURES: The high-resolution computed tomography findings and age distribution of each group were compared with those of other groups by multiple comparison using Tukey's honestly significant difference test. RESULTS: The course of the facial nerve was not significantly different in terms of the severity of microtia and deformity of the middle ear. The bony cochlea in the patients with mandibulofacial dysostosis was displaced by a mean value of 2 mm more anteriorly and a mean value of 0.7 mm shallower than that in the cases with normal auricles. CONCLUSION: The facial nerve of patients with mandibulofacial dysostosis is displaced more anterolaterally than that of the cases with normal auricles; however, the auricle anomaly is not severe.

Adolescent↗

PubMed1993

Cranial base and face in mandibulofacial dysostosis.

Using longitudinal roentgencephalometry, we studied craniofacial growth in two children with mandibulofacial dysostosis. In one child, data were supplemented by three-dimensional reconstructions of CT scans and stereolithographic models of the craniofacial skeleton. Progressive basilar kyphosis was found in both children, the hypothesized caused being bending of the cranial base at the level of the sphenofrontal suture. Such bending acting in concert with abnormal growth of the mandible led to impairment of the airway. We advocate careful monitoring of craniofacial growth and respiratory function in mandibulofacial dysostosis from birth through adolescence.

Adolescent↗

PubMed1992

Mandibulofacial dysostosis (Treacher Collins syndrome): a case report.

Mandibulofacial dysostosis, also known as Treacher Collins syndrome, is a rare congenital anomaly that must be identified in infancy to prevent irrevocable developmental impairment. Information is sparse in the current medical literature concerning this rare syndrome. This article reports a case of Treacher Collins syndrome with the presence of a scarring alopecia and acne keloidalis nuchae, which are possibly coincidental symptoms, but have not been previously described clinically in this malady.

Acne Keloid↗

PubMed1996

Mandibulofacial dysostosis: surgical treatment.

In six persons with mandibulofacial dysostosis, surgical correction of the anomaly was performed at different ages using different methods. In two persons between the ages of 7 and 9 years, correction of the zygomaticomaxillary region, using rib cartilage, was performed first. Later, at the age of 14 years, suitable orthognathic surgical procedures were done. In two patients at the ages of 16 and 17 years suitable orthognathic surgical procedures were performed first and correction of zygomaticomaxillary region, using rib cartilage, was performed 1 year later. In two 18-year-olds, the zygomaticomaxillary region was corrected using vascularized osteopericranial and additional pericranial flaps. In one of these two persons, suitable orthognathic surgical procedures had been performed a year before. The poorest results were obtained in two patients whose surgical treatment began at 7 to 9 years of age. The best results were obtained in those in whom suitable orthognathic surgical procedures were performed between 16 and 18 years of age with the correction of the zygomaticomaxillary region a year later.

Adolescent↗

PubMed1986

Midtrimester sonographic diagnosis of mandibulofacial dysostosis.

Two fetuses at risk for mandibulofacial dysostosis (MFD) were monitored sonographically during the midtrimester of pregnancy. Normal facial and auricular structure were identified in one fetus, and a healthy infant was subsequently delivered. Severe microtia and micrognathia were apparent in the second fetus and a diagnosis of MFD was made and confirmed at delivery. These observations indicate that midtrimester sonographic diagnosis of severe MFD is possible.

Adult↗