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We describe a stillborn female with acrofacial dysostosis and frontonasal dysplasia. She had protrusion of the forehead, with marked hypertelorism and absence of the nose but with the rhinencephalon present. Autopsy showed wide cranial sutures, severe hydrocephalus with separation of the right and left hemispheres of the brain, preservation of the olfactory bulb and first and second cranial nerves. The child also had small kidneys bilaterally, rectal atresia and an absent anus with rectovaginal fistula. These clinical findings suggest a new form of acrofacial dysostosis.

The differential diagnosis of syndromes with anomalies of the first and second branchial arches includes the oculo-auriculo-vertebral syndrome, the Treacher-Collins syndrome, the acrofacial dysostoses (including Nager and Miller syndromes), the dysgnathia complex and the auriculo-condylar syndrome. Isolated microtia may also be present with involvement of other facial structures and distant organs. We report here a patient with first and second branchial arch anomalies, born to consanguineous parents. Pertinent physical findings include severe micrognathia, absence of the upper portion of the helices, atresia of the external meati and absence of the middle ear ossicles, mildly down-slanting palpebral fissures and a highly arched palate with a submucous cleft. Discussion of the differential diagnosis highlights the clinical overlap between these conditions. This constellation of findings may represent a more severe manifestation of the auriculo-condylar syndrome or a previously undescribed 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.

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.

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.

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.