Cases reported "Mouth Abnormalities"

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1/25. 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.
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2/25. A new arthrogryposis syndrome with facial and limb anomalies.

    A new familial syndrome of facial and limb anomalies was shown in a 4-month-old girl. Small mouth and jaw with limited jaw movement were seen in infancy, with growth to relatively normal size and movement in adulthood, but with a persistent, deep, horizontal depression just above the chin. Mild short stature and microcephaly as well as large ears with lack of the anthelix were present in family members. Severe flexion contractures of the hands and feet were present and led to subluxation of fingers and club feet in the most severely affect child. Marked variability among family members was seen, but a dominant inheritance seems likely.
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3/25. New syndrome characterized by sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay.

    A brother and a sister show very similar clinical features, including sparse hair in the first year of life, prominent nose, small mouth, micrognathia, high arched palate or cleft palate, crumpled upper helices, flexion limitation of the distal interphalangeal joint of the fingers, and mild developmental delay. Their clinical appearance suggests a premature aging phenotype, but is not really compatible with the hitherto known syndromes of that group. The mode of inheritance is likely autosomal recessive.
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4/25. Familial partial trisomy of the long arm of chromosome 10 (q24-26).

    Two fourth cousins with a strikingly similar pattern of malformation and who have an unbalanced translocation (46, XY, -17, t (17p; 10q) are described. From an analysis of the phenotypes of these patients and others reported with 10q trisomy, we propose that the trisomy 10q 24-26 syndrome includes: growth and mental retardation, a characteristic facies (microcephaly, flat face with spacious forehead, small nose, depressed nasal bridge, arched wide-spaced eyebrows, blepharophimosis, microphthalmia, low-set ears, bow-shaped mouth with prominent upper lip, micrognathia), palate anomalies (high-arched cleft or agenesis), congenital heart disease, and anomalies of the hands and feet. Anomalies common to the cousins, but not described in other patients with trisomy 10q, are believed to be expressions of a partial monosomy of 17p.
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5/25. cleft palate congenital alveolar synechiae syndrome: case reports and review.

    Five cases of cleft palate with interalveolar synechiae have been previously reported. This is the first report of siblings with this condition, and suggests a genetic aetiology. These patients present with an inability to open the mouth adequately. Initial management is directed towards dividing the intraoral adhesions, which may cause significant problems of airway management. Significantly, the intraoral adhesions resolved spontaneously in one of our patients. This, to our knowledge, has not been reported before.
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6/25. Endoscopic release of intraoral synechiae in popliteal pterygium syndrome.

    An infant with typical popliteal pterygium syndrome had intraoral fibrous bands binding the maxillary and mandibular alveolar ridges. This resulted in dramatically restricted mouth opening. These bands were divided surgically with endoscopic assistance.
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7/25. Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome?

    BACKGROUND: In 1972, Fuhrmann et al. (Humangenetik 1972;14:196-203) described a novel syndrome consisting of cleft palate (CP) and lateral synechiae (LS) between the palate and the floor of the mouth. This constellation of malformations, since denoted as cleft-palate lateral synechiae syndrome (CPLS), is a rare syndrome; only five cases have been reported since the original description. Because of the paucity of recognized cases, little is known regarding the phenotypic spectrum of this presumably autosomal dominant condition. CASES: We report two unrelated patients who presented with remarkably similar phenotypic features, including multiple intraoral synechiae (filiforme intraalveolar bands), cleft palate, micrognathia, and redundant lower lip tissue. Their phenotypic findings indicate a diagnosis of CPLS; however, case 3 (the monozygotic twin of case 2) had classic phenotypic features of Fryns syndrome. CONCLUSIONS: This report presents two new cases of CPLS, and suggests that the CPLS phenotype may represent the mild end of the Fryns syndrome phenotypic spectrum. Supplementary material for this article can be found on the Birth Defects research (Part A) website (http://www.interscience.wiley.com/ jpages/1542-0752/suppmat/67/fig5.xls).
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8/25. Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).

    A mother and son are described with unusual facies, patent ductus arteriosus, fusion of distal interphalangeal joints and mild learning difficulties. The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth. This autosomal dominant syndrome has been reported in one other family by F. Char (1978).
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9/25. cleft palate and congenital synechiae syndrome: a case report.

    OBJECTIVE: A 1-day-old baby girl with a cleft of the secondary palate and a soft tissue band connecting the upper and lower jaws and preventing mouth opening was referred to the cleft lip and palate team by her pediatrician. This case represents a further example of an interesting but rare anomaly known as congenital alveolar synechia syndrome that requires early management to allow normal feeding and oral development.
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10/25. trismus-pseudocamptodactyly syndrome (Hecht-Beals' syndrome): case report and literature review.

    The trismus-pseudocamptodactyly syndrome (TPS) is a rare condition inherited as an autosomal dominant trait with variable expressivity. Clinically the syndrome is characterized by decreased ability to open the mouth and curvature of the fingers at the level of interphalangic joints while attempting dorsiflexion of the wrist (pseudocamptodactyly). A 6-year-old male patient from guatemala with this syndrome is presented. The surgical treatment consisted of bilateral coronoid amputation to resolve the pseudotrismus. The procedure was successful and the patient achieved normal function.
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