1/12. Transmission of the dysgnathia complex from mother to daughter.We report the first observation of parent-to-child transmission of dysgnathia, a rare disorder characterized by severe mandibular hypoplasia or agenesis, ear anomalies, microstomia, and microglossia. Patient 1 was noted prenatally by ultrasound to have severe micrognathia and, after birth, abnormal ears with canal stenosis and non-contiguous lobules located dorsally to the rest of the pinnae, normal zygomata, severe jaw immobility and microstomia with an opening of only 4 to 5 mm, hypoplastic tongue, and cleft palate. The 21-year-old mother of patient 1 was born with severe micrognathia requiring tracheostomy, microglossia, cleft palate with filiform alveolar bands, abnormal pinnae, and decreased conductive hearing. Dysgnathia is thought to result from a defect in the development of the first branchial arch. A similar phenotype has been seen in Otx2 haplo-insufficiency and endothelin-1 homozygous null mice, suggesting that these genes contribute to branchial arch development. Our report of a long-surviving mother and her daughter with non-syndromal dysgnathia may lead to identification of the molecular basis of these findings and provide insight into the genetics of first branchial arch formation. The survival of patient 1 and patient 2 beyond the neonatal period has implications for improvements in prenatal diagnosis and counseling and for neonatal treatment of this condition.- - - - - - - - - - ranking = 1keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
2/12. Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis.We report here the fourth case of hypomandibular faciocranial dysostosis (HFD). The diagnosis was made at birth on the association of severe retrognathia, microstomia, severe hypoglossia with glossoptosis, persistent buccopharyngeal membrane, median cleft palate, bifid uvula, down-slanting palpebral fissures, short nose with anteverted nares, laryngeal hypoplasia, and low-set ears. A severe microstomia and micrognathia were detected by ultrasound at 31 weeks of gestation. Interestingly, even though the present case exhibits many facial dysmorphic features characteristic of HFD, craniosynostosis was absent. This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition. Furthermore, we present a new argument for an autosomal recessive mode of inheritance for HFD.- - - - - - - - - - ranking = 0.5keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
3/12. Dominant inheritance of cleft palate, microstomia and micrognathia--possible linkage to the fragile site at 16q22 (FRA16B).We report a family in which a father and his three children are affected with microstomia, micrognathia and partial or complete cleft of the hard and soft palate. The probands were non-identical twins, a boy and a girl, both noted to have the above features soon after birth. Their father was diagnosed with a submucous cleft of the palate at the age of 4 years and their older brother has milder facial features and a bifid uvula. All affected family members were demonstrated to have a fragile site on chromosome 16q22 but otherwise normal karyotypes. Of interest is a previously described family with autosomal dominant inheritance of U-shaped cleft palate, microstomia, micrognathia and oligodontia where all affected members were shown to have the fragile site at 16q22 in a proportion of their cells [Bettex et al. (1998) Eur J Pediatr Surg 8:4-8]. We propose that these two conditions are the same and represent a distinctive syndrome involving aberrant orofacial development that may be linked to the fragile site at 16q22.- - - - - - - - - - ranking = 2.6847980498754keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
4/12. Transmigration of a maxillary canine. A case report.In the oral cavity, transmigration is defined as a tooth that crosses the mid-line by more than half its length. Following extensive literature review, it was found that, although well documented with respect to mandibular canines, there were only two publications detailing maxillary cuspid transmigration. This report presents a case of transmigration where the left maxillary canine gradually crossed the mid-line and migrated to the right side in a patient with hemifacial microsomia and cleft palate. The Mupparapu classification of the migratory pattern of the mandibular canines is discussed. Various clinical considerations, as well as guidelines for general practitioners to diagnose and manage such a condition, are also discussed.- - - - - - - - - - ranking = 0.5keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
5/12. Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.We report on 20 individuals in 4 kindreds with auriculo-condylar syndrome (ACS), an autosomal dominant disorder characterized by congenital auricular clefts, mandibular condyle hypoplasia, temporomandibular joint (TMJ) abnormalities, micrognathia, microstomia, and a round facial appearance with prominent cheeks. Affected individuals have varying degrees of glossoptosis, respiratory distress, masticatory abnormalities, and malocclusion. Data from these families and those previously described suggest that this is a unique disorder with widely variable expression, including lack of obvious external anomalies in some individuals and severe ear malformations, condyle agenesis, and characteristic facial features in others. Early recognition of this condition should permit appropriate counseling and anticipatory guidance, including evaluation for reconstructive surgery and orthodontia and intervention for upper airway obstruction and sleep apnea.- - - - - - - - - - ranking = 0.039633875123902keywords = cleft (Clic here for more details about this article) |
6/12. rehabilitation of a patient with limited oral opening following glossectomy.rehabilitation of the glossectomy patient is one of the most difficult and challenging problems for the prosthodontist and speech pathologist. The tongue plays an important role in articulation, control of secretions, formation of a bolus, propulsion of the bolus toward the pharynx, clearing the palate, and initiation of the swallow reflex. This paper presents speech and prosthodontic considerations for a patient who underwent a glossectomy and had the additional problem of reduced oral opening.- - - - - - - - - - ranking = 0.052765149813794keywords = palate (Clic here for more details about this article) |
7/12. A new skeletal dysplasia: clinical, radiologic, and pathologic findings.Two siblings, one male and one female, were noted to have a distinct skeletal dysplasia. The clinical and radiographic features resemble those observed in Kniest dysplasia and Rolland-Desbuquois syndrome, but important differences were noted. Specifically, these two patients have microstomia, "pursed" lips, and ectopia lentis, and their radiographs reveal no coronal clefts. Chondro-osseous features also differ from those observed in either of the other disorders. Scattered dense patches consisting of collagen fibers 10 to 30 times broader than normal are seen scattered throughout the cartilage matrix; the "Swiss cheese" appearance characteristic of Kniest dysplasia is not observed. These patients appear to have a new skeletal dysplasia, most likely inherited in an autosomal recessive fashion.- - - - - - - - - - ranking = 0.039633875123902keywords = cleft (Clic here for more details about this article) |
8/12. Complete mandibular agenesis. Report of a case.A child had complete mandibular agenesis, with associated anomalies of microstomia, left choanal stenosis, and a cleft soft palate. This child had evidence of disruption in development at about the four-week stage by the persistence of several developmental remnants, specifically, the buccopharyngeal membrane, tongue remnants, and the laryngotracheal groove. The etiology of this condition is unclear at this time.- - - - - - - - - - ranking = 0.092399024937696keywords = palate, cleft (Clic here for more details about this article) |
9/12. A case of lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia.We present a female infant with a complex pattern of congenital malformations including a lateral facial cleft, cleft lip and palate, anophthalmia, microtia, clavicular agenesis and asternia. A differential diagnosis is proposed and discussed.- - - - - - - - - - ranking = 0.66016450030799keywords = palate, cleft (Clic here for more details about this article) |
10/12. blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant.We report on a 1-month-old infant with blepharophimosis, telecanthus, ear anomalies, and microstomia. He also had a long philtrum and a narrow, high-arched palate. This case is very similar to the cases reported by Simosa et al. [1989: Am J Med Genet 32:184-186]. In addition, our patient had tongue tie and camptodactyly of fingers.- - - - - - - - - - ranking = 0.052765149813794keywords = palate (Clic here for more details about this article) |
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