Cases reported "Cleft Palate"

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1/11. A rare case of upper airway obstruction in an infant caused by basal encephalocele complicating facial midline deformity.

    A four-month-old male infant with basal encephalocele of the transsphenoidal type presented with upper airway obstruction and facial midline deformity, including cleft lip, cleft palate, hypertelorism and exophthalmos. Basal encephalocele is a rare disease, and usually not detectable from the outside. In this case, initially the cause of an upper airway obstruction was considered to be posterior rhinostenosis, and posterior rhinoplasty with inferior nasal conchectomy was scheduled. However, in preoperative examination, computed tomography (CT) and magnetic resonance imaging (MRI) revealed a bony defect in the sphenoidal bone and a cystic mass in communication with cerebrospinal fluid, herniating into the nasal cavity through the bony defect. The mass was diagnosed as a transsphenoidal encephalocele, the scheduled operation cancelled, and tracheostomy performed for airway management. The possibility of basal encephalocele should be considered in the case of upper airway obstruction with facial midline deformity.
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ranking = 1
keywords = communication
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2/11. speech patterns in Kabuki make-up syndrome: a case report.

    The case of a girl aged 3 years and 8 months with Kabuki make-up syndrome is reported. At presentation, she had normal cognitive functioning, and she also had a history of otitis media, a submucous cleft palate, and some hypotonia. language testing showed normal receptive skills and good expressive vocabulary but poor morphosyntactic abilities. speech analysis showed that she was capable of producing most of the sounds of her native language but demonstrated high variability in production of the sounds. In addition, she inconsistently simplified words by application of several phonologic processes. Possible explanations for the communication problems demonstrated are discussed.
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ranking = 1
keywords = communication
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3/11. Chromosome 22q11 deletion syndrome (CATCH 22): neuropsychiatric and neuropsychological aspects.

    Twenty children and young adults (age range 5 to 33 years, 12 females and eight males) with genetically confirmed 22q11 deletion syndrome (CATCH 22: Cardiac anomaly, Anomalous face, Thymus hypoplasia/aplasia, cleft palate, and Hypocalcaemia), recruited from a large ongoing study, were given comprehensive assessments with a view to determining the pattern of neuropsychiatric and neuropsychological deficits thought to be part of the syndrome in many cases. IQ ranged between 46 and 100 with a mean score of 70. Half the group had an IQ <70. In 13 individuals, attention-deficit-hyperactivity disorder (ADHD), mainly inattentive or combined type in most cases, and/or autism spectrum problems were diagnosed. Many participants, even among those who had an IQ within the normal range and had neither ADHD nor autistic spectrum problems, showed a characteristic and pronounced behavioural profile with low mental energy, initiation difficulties, deficits in sustained attention, and social interaction (often augmented by limited facial expression and communication and speech problems).
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ranking = 1
keywords = communication
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4/11. The 10q24-linked split hand/split foot syndrome (SHFM3): narrowing of the critical region and confirmation of the clinical phenotype.

    In this communication we describe the clinical and molecular genetic findings in a family with a variable ectrodactyly linked to SHFM3. This is only the second detailed report of the clinical features of the SHFM3 linked syndrome in a large pedigree. Within this family the expressivity of the condition ranges from the classical ectrodactyly deformity to partial absence of the thumb and agenesis of the distal tip of the index finger. There is discordant limb severity, with the feet more severely affected than the hands. Two individuals have a nail dysplasia indicating the presence of a minor ectodermal component. A cleft palate was present in one individual. Radiological features of family members include short metacarpals with rounded proximal heads, agenesis of the radial ray, epiphysial coning, and an unusual supernumerary ossicle opposed to the distal phalanx of the left thumb. Genetic mapping studies in this family exclude p63 involvement and demonstrate that ectrodactyly in this pedigree is linked to the SHFM3 region on chromosome 10q24. A meiotic recombination event enabled exclusion of a maximum of 1.9 Mb of dna from the previously known critical region thereby narrowing the critical interval to between D10S1265 and D10S222, with the minimal critical region being between D10S1240 and D10S1267. Further investigations are in progress to identify the gene within the SHFM3 critical region responsible for ectrodactyly.
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ranking = 1
keywords = communication
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5/11. Long-term stability of prosthetic treatment of oronasal and oroantral communications.

    This five-year prospective study demonstrates prosthetic treatment by multidisciplinary therapy: surgeon, orthodontist, and prosthodontist. 10 patients volunteered for the study (a group of 7 men and 3 women at an average age of 33.2 years). 10 obturators, 49 fixed dentures were inserted to the upper jaw. Based on ADA (american dental association) recommendation a special card was prepared containing relevant information on the patients. Clinical assessments were carried out in accordance with the US public health Service System. In a 5-year period only 50.0% of restorations were excellent, receiving 100% alpha rating. The marginal ridge contour and adaptation of obturator achieved 60.0% alpha rating. The anatomic form of dental arch was destroyed in 50.0%. The presence of caries was not detected. Six teeth were extracted due to periodontal disease. The general contour of the restoration followed the overall contour of the fixed denture in 95.9%. Plaque accumulation was found in 50%. The colour match of crowns was darker and translucent in 27.7%, but discoloration of removable denture was seen in 30.0%. The three case reports demonstrate the long-term stability of treatment (from alpha to charlie evaluation). Attachment retention, fixed and removable denture with metal base are the first method of choice, due to acceptable long-term stability.
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ranking = 4
keywords = communication
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6/11. Prosthetic assessment in cleft lip and palate patients: a case report with oronasal communication.

    The cleft lip and palate patient is mainly characterized by the presence of an oronasal communication, malformation or agenesis of the teeth close to the cleft, and deficient sagittal and transverse growth of the maxilla. These patients require various treatments involving a multidisciplinary team, which may include a maxillofacial surgeon, an orthodontist, a speech therapist, a paediatrician, a general dentist, a prosthodontist, an ENT specialist, a psychologist and all those professionals who can help provide functional, aesthetic and psychological improvement. This report describes a case of prosthetic rehabilitation in a patient with cleft lip and palate and an oronasal fistula (communication) following surgery. Different prosthetic treatments are described, with emphasis being placed on the approach chosen after to discuss the various limitations which arose.
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ranking = 6
keywords = communication
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7/11. cleft palate. Selected case studies.

    These case studies provide small, selected samples of the results of assessments of articulation skills and their phonologic applications and give some information related to velopharyngeal function during speech. These illustrations were based chiefly on perceptual assessment of speech because this type of assessment is used routinely by SLPs, and does not require instrumentation. Indicators for referral and communication to a cleft palate team were derived from the perceptual evaluation. Other articles in this issue discuss procedures for evaluation in considerable detail. Early identification of possible velopharyngeal problems and early referral to a cleft palate team can help to resolve speech, language, and hearing disorders related to cleft palate and velopharyngeal dysfunction. People who comprise cleft palate and craniofacial teams are most likely to have the experience, and the special instrumentation necessary, to make a definitive diagnosis. The team's comprehensive multidisciplinary evaluation should lead to thorough consideration of the many factors that are important for treatment planning. The information and services provided by the team will assist the audiologist and SLP in the conduct of their services for these clients. In this way, the communication disorders specialist becomes an affiliate of the team. The affiliate not only acts as a referent, but also may provide the necessary longitudinal services. The best interests of the client are promoted by ongoing communication between the team and the affiliates of the team.
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ranking = 3
keywords = communication
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8/11. Cognitive-communicative development of identical triplets, one with unilateral cleft lip and palate.

    Identical male triplets, one with a complete unilateral cleft, were studied developmentally from 16 to 25 months of age and tested with several cognitive-communicative developmental measures. Measures of hearing and motor and behavioral development also were obtained. The triplets did not differ from normative data or from each other on hearing, motor, behavioral, and for the most part, cognitive-mental measures. All of the children were within normal limits on receptive communication measures; however, all were delayed on expressive measures. The triplet with the cleft was more delayed than his brothers. Discussion centers on the interaction of variables that may account for this differential effect in expressive measures in relation to the structural anomaly.
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ranking = 1
keywords = communication
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9/11. Interdisciplinary team care of cleft lip and palate: social and psychological aspects.

    The organizational example of a university-based team and two patient case studies illustrate how team interaction affects decision making. The model presented for effective team organization is an egalitarian one. Interdependency, flexibility, and open communication among members are essential. cleft lip and palate teams provide evaluation and treatment that include input from a variety of professional disciplines. The team context makes it possible for care to be coordinated and alleviates the fragmentation of seeking treatment from several independent specialists. Teams also have a special opportunity to address the complex social and psychological issues prevalent in treating persons with birth defects. Specialists, like psychologists and social workers, identify these issues so that surgeons, dentists, and other clinicians may provide a comprehensive treatment plan and management approach. If psychologists or social workers are not available to a team, the group may still successfully integrate a variety of social and personal factors into their decision making. Examples of problem areas and of issues that may be associated with difficulties in adjusting to cleft therapy are included in this article. Teams that effectively address the psychosocial needs of their patients will enhance patient satisfaction, cooperation, and treatment outcomes.
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ranking = 1
keywords = communication
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10/11. Heterotopic pharyngeal brain.

    We report a case of heterotopic brain tissue in the oropharynx without connection to the CNS. We attempt to differentiate this developmental anomaly from encephaloceles and nasal gliomas, in which a communication with the CNS may lead to the development of postoperative meningitis.
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ranking = 1
keywords = communication
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