Severe Agnathia-Otocephaly Complex: Surgical Management and Longitudinal Follow-up From Birth Through Adulthood.

Agnathia-otocephaly complex (AOC) is characterized by mandibular hypo- or aplasia, ear abnormalities, microstomia, and microglossia. Though rare and often fatal, this is the first report detailing various reconstructive strategies beyond infancy as well as longitudinal follow-up into adulthood. All patients with AOC treated at our institution over a 30 year period were reviewed. Four patients were identified, one with agnathia, one with micrognathia. Two males with nanognathia (defined as a symphyseal remnant without body nor ramus) were also included. The mean follow-up was 17 years. All four underwent perinatal tracheostomy and gastrostomy-tube placement. Commissuroplasties were typically performed before 3 years of age and repeated as necessary to allow for oral hygiene. Mandibular reconstruction was most successful with rib between ages 3 and 8, after which time, free fibula transfer was utilized. Due to some resoprtion or extrusion, all patients underwent repeated bone grafting procedures. Tissue expansion of the neck was used to restore the lower third of the face, but was most successful in the teenage years. At last follow-up of the eldest patients, one was in college while another was pursuing graduate education. AOC need not be a fatal nor untreatable condition; a reasonable quality of life can be achieved. Although the lower-facial contour may be improved, and a stoma created, the lack of musculature make deglutition virtually impossible with current therapies. Just as transplantation has emerged as a modality for facial restoration following severe trauma, so too may it be a future option for congenital deformities.

Dental management of patients with microstomia: a review of the literature and update on the treatment / Manejo clínico odontológico del paciente con microstomia: una revisión de la literatura y puesta al día

Difficulty in dental management is one of the factors that characterize the patient that requires special care in dentistry. One of the clinical conditions that make dental treatment particularly complex is microstomia. Microstomia is defined as a small and insufficient oral aperture that will hinder diagnosis and dental treatment. Although there have been reports of patients with diseases and syndromes that cause microstomia, the available literature offers only a limited number of reviews on this topic. The aim of this paper is to present a review of the etiology, clinical characteristics, diagnosis and treatment of microstomia. In addition, to describe the therapeutic adaptations to be applied in dental procedures in patients with microstomia, emphasizing the importance of a preventive approach in this group of patients...

La dificultad en el manejo odontológico es uno de los factores que definen al paciente que requiere cuidados especiales en odontología. Una de las situaciones clínicas que más dificulta el tratamiento dental es la microstomia. La microstomia se define como una apertura bucal pequeña e insuficiente que va a dificultar el diagnóstico y el tratamiento bucodental. Aunque se han descrito casos clínicos de pacientes con enfermedades y síndromes que cursan con microstomia, no hay muchas revisiones del tema en la literatura. El objetivo de este artículo es presentar una revisión sobre la etiología, la clínica, el diagnóstico y el tratamiento de la microstomia. Así como, describir las adaptaciones terapéuticas que se deben aplicar en los procedimientos dentales en el paciente con microstomia, recalcando la importancia de un enfoque preventivo en este grupo de pacientes...

Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability.

We report on a sister and brother born to healthy, double first cousin Iranian parents with a seemingly unique combination of signs and symptoms consisting of intellectual disability, congenital absent voice (aphonia), hearing loss, optic atrophy, retinal dystrophy, mildly broad thumbs, and duplicated halluces. Their facial morphology was unusual: thick eyebrows, ptosis, full eyelashes, long palpebral fissures, downslanting palpebral fissures, small mouth, and low-set, posteriorly rotated ears. This phenotype does not meet the diagnostic criteria of any known entity. Because of parental consanguinity, absence of manifestations in parents, and occurrence in sibs of opposite sex, an autosomal recessive pattern of inheritance is likely.

Fibrodysplasia ossificans progressiva (FOP) in South Africa: dental implications in 5 cases.

Fibrodysplasia ossificans progressiva (FOP) is a severe genetic disorder in which progressive ossification of subcutaneous tissues leads to immobility and profound physical handicap. Dental management of affected persons may be constrained by impaired mobility of the temporomandibular joints. Equally, the traumatic aspects of dental intervention can exacerbate the ossification process. In the later stages of the disorder, thoracic immobility impairs pulmonary ventilation and compromises dental anesthesia. We have undertaken dental appraisal and treatment of 5 South Africans with FOP, with ages ranging from 2 to 52 years. The age relationship of the manifestations of FOP was apparent in these persons, as were the dental problems that emerged. These dental observations illustrate the importance of accurate diagnosis and the awareness of potential complications that may be encountered in dental management. Our observations are presented and discussed in this article.

A phenotypic assessment tool for craniofacial microsomia.

BACKGROUND: Craniofacial microsomia is one of the most common conditions treated by craniofacial teams. However, research regarding the cause of this condition or the surgical outcomes of treatment is scant. This is attributable to the lack of diagnostic criteria and the wide phenotypic spectrum. Standardized description of the craniofacial malformations associated with craniofacial microsomia is a necessary first step for multicenter, interdisciplinary research into this complex condition. METHODS: The authors used the previously published pictorial Orbit, Mandible, Ear, Nerve, and Soft tissue-Plus classification scheme to assign a phenotypic severity score to patients with craniofacial microsomia treated at the Craniofacial Center at Seattle Children's Hospital. The authors modified the tool based on feedback from multidisciplinary focus groups. The authors also developed a standardized photographic protocol to facilitate assessment of patients using two-dimensional images. RESULTS: Feedback from focus groups was synthesized to create a phenotypic assessment tool for craniofacial microsomia based on the pictorial Orbit, Mandible, Ear, Nerve, and Soft tissue-Plus classification system. This tool allows for more comprehensive description of the phenotype of craniofacial microsomia and is found to be effective for clinical use within a multidisciplinary craniofacial team. In addition, the photographic protocol for patients with craniofacial microsomia allows for classification from a two-dimensional photographic database, thereby facilitating research using archived photographs. CONCLUSIONS: The phenotypic assessment tool for craniofacial microsomia protocol provides a simple and standardized method for practitioners and researchers to classify patients with craniofacial microsomia. We anticipate that this tool can be used in multicenter investigational studies to evaluate the cause of this condition, its natural history, and comparative effectiveness research.

Agnathia-synotia-microstomia (otocephaly): a case report in an African woman.

Pharyngeal arches appear in the 4th and 5th weeks of development of the human embryo. The 1st pharyngeal arch develops into the incus and malleus, premaxilla, maxilla, zygomatic bone; part of the temporal bone, the mandible and it contributes to the formation of bones of the middle ear. The musculature of the 1st pharyngeal arch includes muscles of mastication, anterior belly of the digastric mylohyoid, tensor tympani and tensor palatini. The second pharyngeal arch gives rise to the stapes, styloid process of the temporal bone, stylohyoid ligament, the lesser horn and upper part of the body of the hyoid bone. The stapedius muscle, stylohyoid, posterior belly of the digastric, auricular and muscles of facial expressional all derive from the 2nd pharyngeal arch. Otocephaly has been classified as a defect of blastogenesis, with structural defects primarily involving the first and second branchial arch derivatives. It may also result in dysmorphogenesis of other midline craniofacial field structures, such as the forebrain and axial body structures.

The Schwartz-Jampel syndrome.

Three sibs with severe manifestation of Schwartz-Jampel syndrome are described. All died due to respiratory complications. Early diagnosis might help to prevent this complication. In addition to electromyography, skeletal radiographs can be helpful in establishing the diagnosis. The radiological manifestations of this syndrome are reviewed.

In utero diagnosis of agnathia, microstomia, and synotia.

A rare case of the in utero observation of agnathia, microstomia, and synotia associated with hydramnios is presented. The correct diagnosis is made by observing an absent mandible in a patient with hydraminios.