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At least 685 records · Page 38Linked to original sources
PubMed2000

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.

Child, Preschool↗
PubMed2002

Oro-dental manifestations of the Schwartz-Jampel syndrome.

A boy with the Schwartz-Jampel syndrome (chondrodystrophic myotonia) had a number of oro-dental complications. These included difficulty in tooth extraction and orthodontic care due to a small oral aperture and rigidity of the temporo-mandibular joints. General anaesthesia was hazardous because of a propensity to malignant hyperthermia, and endotracheal intubation was difficult because of shortness and rigidity of the neck and the small size of the laryngeal structures. Awareness of these potential problems is crucial for anaesthesia and comprehensive dental management. The radiological demonstration of dentigerous cysts is a hitherto unreported observation in this disorder.

Adolescent↗
PubMed2004

Effects of exposure to a combination of zinc- and lead-spiked sediments on mouthpart development and growth in Chironomus tentans.

Exposures to either zinc or lead in contaminated sediments have been shown to induce characteristic deformities in larval chironomids. This study examined the effects of exposure to lead and zinc in combination on Chironomus tentans larvae. Proportions of mouthpart deformities in populations of larvae reared in sediments containing nominal combinations of lead and zinc were tested for additive, synergistic, and antagonistic interactions using logistic regression. Metal body burdens, body size measurements, and survival were used to evaluate toxicity and developmental impacts. Results demonstrate zinc and lead mixtures produce fewer deformities than the individual metal, so their interaction may be characterized as antagonistic. However, exposure to the metal mixtures also caused delayed development and failure to hatch. The apparent decline in deformities may be an artifact of higher mortalities or developmental effects. This research provides better understanding of some of the problems and considerations for use of chironomid population deformity proportions in bioassessments for sediment metal contamination.

Animals↗
PubMed1985

Disorders of speech and voice.

The focus of this article has been on the disorders of the motor aspects of speech and voice production, as contrasted with the symbolic aspects of the communication process (language). Categories of motor speech problems include those in which the articulation of speech sounds is aberrant, phonatory problems related to laryngeal function, those resulting from craniofacial anomalies, and finally those characterized by disruption in the flow or fluency of speech. Guidelines for timing and type of referral have been suggested. In each case, early referral is urged so that diagnosis of the problem based upon complete assessment can serve to guide treatment planning. Parental reports and concerns about a child's speech development (as well as language, cognitive and auditory behavior) should be given credence and attended to rather than ignored or postponed. Speech disorders are often amenable to total resolution and almost always to a significant degree of improvement, especially if diagnosed and treated early.

Adolescent↗
PubMed1999

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.

Body Height↗
PubMed1999

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.

Child↗
PubMed1975

[Reflexions on labial topography].

The musculature of the lips contributes to oro-facial muscular equilibrium. Labial topography at rest is extremely variable, as there may be gaping of the lips with a short upper lip and associated protrusion of the upper alveolar process, as well as on the contrary an upwardly displaced stoma leading to incarceration of the upper dental arch by the lower lip and retrocession of the laveolar process (stoma syndrome). Anomalies at rest justify surgical treatment.

Cephalometry↗
PubMed1999

Bimaxillary orthognathic surgery in a patient with long face: a case report.

The primary characteristics of long face patients are gummy smile and/or anterior open bite. Consequently, correction of esthetic and functional problems are especially important for long face patients. Since orthodontic therapy alone is not sufficient to solve the problem, orthognathic surgical approach is indicated for these patients. In this report, orthognathic surgical therapy of a severe long face patient with similar findings was presented. Following clinical and cephalometric examination and preoperative orthodontic therapy, a Le Fort I osteotomy, a bilateral sagittal split osteotomy, and vertical and horizontal reduction genioplasties were performed. Alternative surgical therapies, complications, and the effects on the upper respiratory tract are also discussed.

Adult↗