Cases reported "Mouth Abnormalities"

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1/154. Combined surgical and orthodontic management of the oral abnormalities in children with cleidocranial dysplasia.

    Children with cleidocranial dysplasia have dental abnormalities which combine to prevent normal tooth eruption, and which if untreated may result in abnormal facial and jaw growth. A technique combining orthodontics and oral surgery has resulted in the establishment of excellent occlusion and facial appearance in these patients. Recent advances in direct enamel bonding techniques for orthondontic attachments have permitted a conservative surgical approach with minimal bone removal during surgery to expose unerupted teeth prior to orthodontic treatment. ( info)

2/154. Salivary gland aplasia with cleft lip and palate: a case report and review of the literature.

    We report the case of a patient with lifelong symptoms of xerostomia and a repaired bilateral cleft lip and palate. The clinical evaluation demonstrated aplasia of the major salivary glands. A review of the literature pertaining to salivary gland aplasia is presented, along with a summary of the data regarding patient gender, defect sites, hereditary background, and combined manifestations. The diagnostic methods, possible pathogenesis, and management are also discussed. ( info)

3/154. Sonographic features of fetal trisomy 18 at 13 and 14 weeks: four case reports.

    Fetal trisomy 18 is the second most common multiple malformation syndrome. We present four cases of trisomy 18 with multiple sonographic abnormalities at 13 and 14 weeks of gestation. These cases demonstrated that fetal hand deformities can be a tell-tale sign of trisomy 18 with or without increased nuchal translucency at this gestation. ( info)

4/154. Bilateral coronoid process hyperplasia with limitation on mouth opening: case report.

    Coronoid process hyperplasia with limitation of mouth opening is rare. The pathology is often ignored, but it can be easily detected using dental panoramic view of x-ray films. Definition of the coronoid process hyperplasia can be made by measuring the height of coronoid process and the ratio of coronoid/condyle height on lateral cephalometric x-ray film. Etiology of the coronoid process hyperplasia can be congenital or acquired. Differentiation of the diagnosis may be difficult. The congenital type occurs at early age with clinical manifestations. Proposed hypotheses for the formation of coronoid process hyperplasia include increased activity within the temporalis muscle from conditions such as functional stress, compression, and tension. For patients with coronoid process hyperplasia and restriction on mouth opening, conservative treatment should first be attempted. Surgical treatment is considered if conservative treatment fails. Coronoidectomy with early mobilization and aggressive physiotherapy corrects the problem. We present a patient with coronoid process hyperplasia with limitation of mouth opening who was successfully treated. ( info)

5/154. Oral-facial-digital syndrome with acromelic short stature: a new variant--overlap with Ellis Van Creveld syndrome.

    The Oral-Facial-Digital syndromes (OFDS) are a heterogeneous group of disorders having common oral, facial, and digital malformations. Here, we report a consanguineous family with a new variety of OFDS associated with acromelic short stature and genu valgum; the features overlapping with Ellis Van Creveld syndrome. One of the sibs has urinary incontinence and growth hormone deficiency, which has not been reported earlier in any type of OFDS in the literature. ( info)

6/154. Midface distraction osteogenesis in cleft patients: a case report.

    We present a case of midface distraction in a bilateral cleft lip and palate patient. The patient was a 10-year-old who underwent a high LeFort I osteotomy followed by placement of the Rigid External Distraction halo. Distraction was commenced on the fifth postoperative day at a rate of 1 to 1.5 mm per day until a total of 17 mm of maxillary advancement had been achieved. There were no complications and follow up was at 9 months post distraction. Results show that the patient had improved facial aesthetics and dental occlusion which was overcorrected to a Class III relationship. Velopharyngeal function was unaffected. Distraction osteogenesis of the midfacial skeleton in cleft patients offers the possibility to remodel not only the underlying bony skeleton but also all the soft tissues of the face and palate. ( info)

7/154. Otolaryngological features of 'malformation syndrome with cryptophthalmos'.

    Anomalies of the nose, larynx and oral cavity are described in two patients with cryptophthalmos. A teratogen acting at the time of lid fold formation is probably responsible for the ocular and systemic involvement which are primarily ectodermal defects with some mesodermal involvement. ( info)

8/154. Popliteal pterygium syndrome in a Swedish family--clinical findings and genetic analysis with the van der Woude syndrome locus at 1q32-q41.

    The present study describes a Swedish family in which the mother and her son were affected with signs of popliteal pterygium syndrome (PPS, OMIM 119500). Both individuals had bilateral complete cleft lip and palate, oral synechiae, paramedian pits on the lower lip, toe syndactyly and a piece of triangular skin overgrowth on the great toes. The son also presented with soft tissue syndactyly of the 2nd and 3rd fingers. Although popliteal pterygium was not found, the above clinical features were diagnostic for PPS. Chromosomal abnormalities were not revealed in either case by cytogenetic analyses. A test for microdeletion in the VWS region at 1q32-q41 was performed in the family using 5 polymorphic microsatellite markers from the region. The affected son was found to be heterozygous for all 5 markers, suggesting that microdeletion at the VWS region was unlikely. The VWS locus, however, was not excluded by haplotype analysis of the family. ( info)

9/154. Double tongue, intraoral anomalies, and cleft palate--case reports and a discussion of developmental pathology.

    OBJECTIVE: Isolated cleft palate is the most common presentation of the nonsyndromic cleft lip/palate combinations and is multifactorial in etiology. We report two cases of children with clefts of the secondary palate coexistent with double tongue and in either case mandibular epulis or superiorly displaced salivary gland. RESULTS AND DISCUSSION: In each case, the palatal cleft correlated anatomically with the intraoral space-occupying lesion. The ratio of tongue volume to intraoral volume during palatogenesis is discussed with reference to the pathogenesis of cleft palate. These clinical cases propose the model of a unifying sequence of developmental events whereby deformation of palatal shelf elevation results in secondary palatal clefting. ( info)

10/154. Midline cleft. Treatment of the bifid nose.

    BACKGROUND: Midline facial clefts are rare deformities with a wide range of clinical findings from a simple midline vermillion notch to major skeletal malformations, including orbital hypertelorism. The bifid nose is a relatively uncommon malformation that is frequently associated with hypertelorbitism and midline clefts of the lip. The presentation of a bifid nose ranges from a minimally noticeable midline nasal tip central groove to a complete clefting of the osteocartilaginous framework, resulting in 2 complete half noses. We describe our experience with 2 patients with midface clefts who presented with bifid noses and a variety of other congenital abnormalities. The anatomy, extensive treatment, and complications of the bifid nose are discussed. DESIGN: Retrospective case review and literature review. RESULTS: Successful creation of an aesthetic nasal contour and normal nasal function was achieved without complication via extensive skin, bony, and cartilaginous resection. CONCLUSIONS: The bifid nose challenges the rhinoplasty surgeon. A successful outcome is dependent on a thorough understanding of the bifid nasal anatomy, proper patient evaluation, careful preoperative planning, and meticulous surgical technique. ( info)
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