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PubMed1985

Mandibulofacial dysostosis in Hutterite sibs: a possible recessive trait.

We report on two sisters with mandibulofacial dysostosis (MFD). Both parents were examined carefully by clinical, radiographic, audiologic, and cephalometric methods. Neither showed evidence of the MFD gene. Photographs of three grandparents and examination of one disclosed no evidence of MFD. The parents are from the Hutterite Brethren and are consanguineous. Examination of the literature on MFD disclosed a number of other families with affected sibs and apparently normal parents. These families raise the possibility of an autosomal recessive form of MFD or some other explanation such as germinal mosaicism, chromosome rearrangement, or delayed mutation. For our family, the recurrence risk is probably 25%, but since germinal mosaicism cannot be excluded, it could be as high as 50%.

Consanguinity↗
PubMed2002

A profile of the features and speech in patients with mandibulofacial dysostosis.

PURPOSE: To present a profile of the features and speech in patients with mandibulofacial dysostosis (MFD). Data were collected on occlusion, palatal condition, hearing, resonance, voice, and articulation. PATIENTS: Thirty patients with MFD ranging in age from 1.6 to 21.0 years. STUDY DESIGN: Retrospective and prospective cross-sectional designs. SETTING: Pediatric tertiary care hospital. RESULTS: Sixty percent of the patients had an open bite. Isolated cleft palate was found in 37% with other types of cleft conditions occurring less frequently. Twenty-three percent underwent tracheostomy. All patients demonstrated hearing loss, 93% were conductive and 7% were mixed. Resonance, voice, and articulation were also affected. Seventy-seven percent had aberrant resonance including hypernasality, hyponasality, mixed hyper- and hyponasality or muffled resonance, which was found in 40% of the patients. Voice quality was abnormal in 63%. All patients had articulation errors. Although overlap between categories occurred, results showed that 60% had errors related to malocclusion, 30% demonstrated errors usually associated with velopharyngeal inadequacy and 50% had general articulatory or phonological errors that could be attributed to other causes. CONCLUSIONS: The features and speech of patients with MFD are complex. The speech disorders may have multiple overlapping etiologies that require careful differential diagnosis. This is imperative to establish appropriate treatment regimens and evaluate clinical outcomes.

Adolescent↗
PubMed2002

Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1.

BACKGROUND: Treacher Collins syndrome (TCS), the most common type of mandibulofacial dysostosis (MFD), is genetically homogeneous. Other types of MFD are less common and, of these, only the Bauru type of MFD has an autosomal dominant (AD) mode of inheritance established. Here we report clinical features of a kindred with a unique AD MFD with the exclusion of linkage to the TCS locus (TCOF1) on chromosome 5q31-q32. METHODS: Six affected family members underwent a complete medical genetics physical examination and two affected subjects had skeletal survey. All available medical records were reviewed. Linkage analysis using the markers spanning the TCOF1 locus was performed. One typically affected family member had a high resolution karyotype. RESULTS: Affected subjects had significant craniofacial abnormalities without any significant acral changes and thus had a phenotype consistent with a MFD variant. Distinctive features included hypoplasia of the zygomatic complex, micrognathia with malocclusion, auricular abnormalities with conductive hearing loss, and ptosis. Significantly negative two point lod scores were obtained for markers spanning the TCOF1 locus, excluding the possibility that the disease in our kindred is allelic with TCS. High resolution karyotype was normal. CONCLUSIONS: We report a kindred with a novel type of MFD that is not linked to the TCOF1 locus and is also clinically distinct from other types of AD MFD. Identification of additional families will facilitate identification of the gene causing this type of AD MFD and further characterisation of the clinical phenotype.

Adult↗
PubMed1993

Neurocranial morphology in mandibulofacial dysostosis (Treacher Collins syndrome).

An abnormal cranial base could exert a negative influence on neurocranial development. Because patients with mandibulofacial dysostosis (MFD) present an abnormal cranial base (basilar kyphosis), a retrospective mixed longitudinal cephalometric study was designed with the purpose of ascertaining the presence of abnormalities of neurocranial form and size in this population of patients. The lateral and frontal cephalometric radiographs from 33 patients with MFD (15 males, 18 females) ranging in age from 3 years 4 months to 19 years 6 months were used. For comparison cephalometric radiographs from two samples were obtained: one from 24 children (12 male, 12 female) with repaired cleft lip only, and the other from 41 normal young adults (21 male, 21 female). All films were traced, and 9 linear, 1 angular, and 3 derived measurements were obtained from the neurocranium and cranial base. Differences between groups according to age and sex were tested with Student's t-test at the 5% level of significance. A correlation analysis between the cranial base angle and selected neurocranial variables was also conducted. The results showed that although the neurocranium in MFD had normal dimensions in length, height, and volume, it had an abnormal shape. The neurocranium had reduced length anteriorly and increased length posteriorly. The upper cranial height was decreased and the lower cranial height was increased. The difference in shape was evident during childhood and remained in adulthood. The dimensions of the anterior and posterior cranial base, as well as the cranial base angle, were smaller in MFD. A significant negative correlation was found between the cranial base angle and the lower cranial height in MFD.

Adolescent↗
PubMed1994

[High resolution computerized tomography of the temporal bone in mandibulofacial dysostosis].

High resolution CT (HR-CT) scanning of the temporal bone was performed in three patients with a fully expressed mandibulofacial dysostosis for preoperative assessment of temporal bone abnormalities. The external auditory canal was absent in five of six ears. Scans revealed a dysplastic middle ear cleft with dysplastic and partly dislocated ossicles. The ossicles were absent in two temporal bones. In no patient was the mastoid bone pneumatised. The inner ear was affected in only one patient in whom a shortening of the lateral semicircular canal could be found bilaterally. The role of HR-CT of the temporal bone as a preoperative diagnostic tool for the assessment of abnormalities of surgical import is discussed.

Adult↗
PubMed1997

A new form of mandibulofacial dysostosis with macroblepharon and macrostomia.

We report on a girl aged 7 years with normal mental development but an unusual form of mandibulofacial dysostosis. The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares, small, posteriorly rotated ears, a long, smooth philtrum, a thin upper lip, striking macrostomia, retrognathism with reduced height of the mandible, and irregularly placed teeth, some to them missing.

Abnormalities, Multiple↗
PubMed1989

Longitudinal changes in cranial base angulation in mandibulofacial dysostosis.

Longitudinal measures of cranial base angulation (nasion-sella-basion angle; N-S-Ba) were obtained in 24 patients with mandibulofacial dysostosis (MFD), with records available over time spans ranging from 2 years to 29 years. Initial measurements, obtained at ages ranging from 1 month to 13 years, 6 months, indicated basilar kyphosis (N-S-Ba less than 120 degrees) in five patients. Twenty-one patients showed increasing flexure of the cranial base angle (CBA) over time, eight to such a degree that their initially normal CBAs eventually fell into the kyphotic range. At the time of the final available records (age range 4 years, 0 months to 29 years, 2 months), a total of 54 percent of patients thus fell into the kyphotic range. These results point to the time-dependent nature of the appearance of abnormal CB angulation in some patients. In addition, there was a predominance of males in those patients showing significant change in cranial base angulation over time.

Adolescent↗
PubMed2006

Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?

We report a female child born at 36 weeks of gestation with multiple abnormalities including dysmorphic and coarse facial features with features of mandibulofacial dysostosis that include bilateral microtia with the absence of external auditory meati and Mondini dysplasia as well as, duodenal atresia, intestinal malrotation, anterior displacement of the anus, left hemiaplasia of the thyroid and biliary atresia in sibs. The associations of duodenal atresia with intrahepatic and extrahepatic biliary atresia in sibs have been reported, suggesting an autosomal recessive syndrome. However, the associated external, middle and internal ear anomalies and the thyroid malformation, however, have not been reported in this condition. To the best of our knowledge, this is a hitherto new syndrome with an unknown inheritance.

Abnormalities, Multiple↗
PubMed1999

Mandibulofacial dysostosis--variability in facial morphology and growth: a long-term profile roentgenographic and roentgen stereometric analysis of three patients.

OBJECTIVE: To monitor and compare facial morphology and growth in three individuals with variable expression of mandibulofacial dysostosis (MFD) in terms of changes in the skeletal profile and in terms of growth in the circummaxillary sutures and temporomandibular joints (TMJs). DESIGN: Retrospective conventional profile roentgenography (mean age 9 to 18 years) and prospective roentgen stereometric analysis (RSA) (mean age 7 to 17 years). SETTING: Center for Craniofacial Anomalies and Department of Plastic and Reconstructive Surgery, Malmö University Hospital, Sweden. PATIENTS: The first three MFD patients seen by one of the authors (B.R.). INTERVENTIONS: Surgery was performed at the Department of Plastic and Reconstructive Surgery. Implants were inserted at surgery under general anesthesia. Roentgen examinations were performed in connection with continued clinical evaluations and treatment. MAIN OUTCOME MEASURES: All profile roentgenograms were traced and measured by one of the authors (K.-V.S.) using a conventional point-based analysis. RESULTS: The more afflicted patient showed a greater total difference in profile morphology and growth from the norm and more pronounced effects of articular growth restriction. Little change in the skeletal profile was associated with considerable displacement of the jaws. CONCLUSIONS: The variability in MFD expression and surgical procedures in our patients is reflected less in the skeletal profile morphology and growth and more in the displacement of the jaws.

Adolescent↗
PubMed1974

Mandibulofacial dysostosis with limb malformations (Nager's acrofcial dysostosis).

A 13-year-old boy with malar and mandibular hypoplasia, abnormal ears, short soft palate, retarded growth, mild deformities of the elbow joints, hypoplasia of the right thumb and partial agenesis of the left thumb is described. Similar cases have been reported under the heading of mandibulofacial dysostosis. Separate classification under the heading "Nager's acrofacial dysostosis" serves to emphasize the specific association of a first arch syndrome with limb defects, particularly radial, although nosologic identity of MFD and AFD has not been excluded.

Abnormalities, Multiple↗
PubMed1987

Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis.

Acute exposure to 400 mg/kg 13-cis retinoic acid (13-cis RA, isotretinoin, Accutane) on the ninth day postfertilization in mice (a time that corresponds to the fourth week postfertilization in humans) results in malformations that characterize mandibulofacial dysostosis (MFD, Treacher Collins syndrome). Deficiencies in the infraorbital region and in the mandibular ramus and condyle, abnormalities of the secondary palate, and external ear malformations were observed. Light and scanning electron microscopic analyses of affected embryos illustrate that within 12 hours of maternal 13-cis RA treatment, markedly excessive (possibly premature) cell death occurs in regions where some of the cells are normally destined to undergo programmed cell death. Previous studies with retinoids have shown that they labilize lysosomal membranes and expand and strengthen regions of programmed cell death. Of particular interest for this study was cell death occurring in the dorsal (proximal) aspects of the maxillary and mandibular prominences of the first visceral arch, the second visceral arch, and the first visceral cleft, areas that correspond to the locations of the first and second arch ectodermal ("ganglionic") placodes and first closing membrane, respectively. The derivatives of this region are those that are severely affected in MFD. As described in previous reports from this laboratory, 13-cis RA is known to interfere with neural crest cells, resulting in major craniofacial malformations. However, the exposure times involved were earlier than those described herein. It is hypothesized that effects on the first and second arch ectodermal placodal cells at a time following the release from the neural folds of neural crest cells into the developing cranial region are of great significance in the pathogenesis of MFD. This is in contrast to the prevailing hypothesis that these malformations are the direct result of a primary interference with neural crest cells.

Animals↗