Cases reported "Mouth Abnormalities"

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1/44. 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.
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ranking = 1
keywords = dysplasia
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2/44. 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.
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ranking = 0.0020792089358831
keywords = defect
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3/44. 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.
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ranking = 0.0020792089358831
keywords = defect
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4/44. Hurler syndrome: a case report.

    Hurler syndrome is an inherited disorder of mucopolysaceharide metabolism, which is caused by a defect in genetically controlled pathways of lysosomal degradation. It represents the classical prototype of mucopolysaccharide disorder. An interesting case of a three and a half-year old boy with a rare combination of skeletal, neurological, ophthalmologic, and dental findings is presented. It is a rare syndrome with a very low prevalence of 1:100,000 births and as such the clinician should be aware of this syndrome.
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ranking = 0.0020792089358831
keywords = defect
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5/44. Chondroectodermal dysplasia: a case report.

    Chondroectodermal Dysplasia is a disease complex consisting of bilateral manual polydactyly, chondrodysplasia of long bones resulting in acromelic dwarfism, hydroitic ectodermal dysplasia affecting principally the nails, teeth and hair and congenital heart malformations. It is necessary to identify this disease at its early stage in order to render prompt treatment. The oral manifestations are characteristic for this particular disease so that a dental surgeon can identify this condition and refer the case to a cardiologist and orthopedician for corrective surgeries. In this article, a case of a 2 1/2-year old child with chondro-ectodermal dysplasia is presented along with radiographic investigations and treatment plan.
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ranking = 145.3146528614
keywords = ectodermal dysplasia, dysplasia
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6/44. Anaesthetic and airway management in a child with Hanhart's syndrome.

    Hanhart's syndrome (oromandibular-limb hypogenesis syndrome) is a rare disease characterized by hypoglossia/aglossia, various distal limb defects and micrognathia. Difficult airway due to micrognathia may complicate anaesthetic management in this syndrome. We describe the anaesthetic management of a child with Hanhart's syndrome undergoing plastic reconstructive surgery.
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ranking = 0.0020792089358831
keywords = defect
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7/44. Clinical manifestations of terminal osseous dysplasia and pigmentary defects in a young girl.

    Terminal osseous dysplasia and pigmentary defects is a rare X-linked dominant disorder with prenatal male lethality. Affected females display multiple systemic abnormalities such as limb deformities and pigmented lesions of the face and scalp. Phenotypic expression of the syndrome varies among the affected individuals. In this case report, we describe the syndromic dental and oral abnormalities in a female child aged 3 and 1/2 years. A widened bigonial width of the mandible and a brachyfacial pattern are observed. Intraoral findings include multiple frenulae, shallow mucobuccal fold, hypodontia, conical incisors, and other developmental structural defects.
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ranking = 1.0124752536153
keywords = dysplasia, defect
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8/44. Unusual oral findings in dermatosparaxis (ehlers-danlos syndrome type VIIC).

    A 13-year-old patient with dermatosparaxis (ehlers-danlos syndrome type VIIC), an autosomal recessive disorder of procollagen-I-N-proteinase, is presented. The oral findings comprise micrognathia, hypodontia, localized microdontia, opalescent tooth discoloration, root dysplasia, pulp obliteration, severe gingival hyperplasia, frontal open bite, and severe restriction of TMJ mobility. The reported anomalies suggest the need for expanding the present phenotypic spectrum. This is the first report on oral findings in the syndrome.
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ranking = 0.2
keywords = dysplasia
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9/44. Autosomal recessive cleft lip/palate, ectodermal dysplasia, and minor acral anomalies: report of a Brazilian family.

    We report on a Brazilian woman, born to consanguineous (first cousin) parents (F = 1/16) and presenting cleft lip/palate, ectodermal dysplasia, interdigital webbing, and other malformations. Parental consanguinity and possible recurrence in sibs suggest autosomal recessive inheritance. The nosologic aspects with the Martinez syndrome and with the Zlotogora-Ogur syndrome are discussed.
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ranking = 120.9288773845
keywords = ectodermal dysplasia, dysplasia
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10/44. Incomplete bilateral transverse facial cleft--a previously unreported associated defect of the Kallmann's syndrome.

    In 1944 Kallmann et al described sex-linked inheritance of hypogonadotropic hypogonadism with anosmia and noted the co-occurrence cleft lip, cleft palate and cranio-facial asymmetry. Since then, other clinical cases associated with various skeletal, ophthalmic, urogenital, cardiovascular and central nervous system disorders have been reported. This article presents the case of a 17-year-old girl with a bilateral incomplete facial cleft in association with the Kallmann's syndrome, a previously unreported connection. We describe the plastic surgical reconstruction of the bilateral incomplete facial cleft. The mechanism of this embryopathologic association of the Kallmann's syndrome is, we suggest, due to a developmental disturbance in the region of the median forebrain organizer and associated structures, possibly in connection with a pleiotropic genetic mechanism.
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ranking = 0.0083168357435323
keywords = defect
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