Cases reported "Cleft Palate"

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1/47. 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.
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2/47. optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?

    We report on a female infant with postaxial polydactyly of the hands, preaxial polydactyly of the right foot, cleft palate, microglossia and tongue hamartomata consistent with an oral-facial-digital syndrome (OFDS). The patient also had optic nerve colobomata, a Dandy-Walker malformation, micrognathia and apneic spells. This combination of clinical features has not been previously reported. This patient either expands the clinical features of one of the existing OFDS or represents a new variant. A review of the literature highlights the difficulties in making a specific diagnosis because of the different classification systems that exist in the literature.
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3/47. Long-term follow-up of a girl with oro-facio-digital syndrome type I due to a mutation in the OFD 1 gene.

    In 1954, Papillon-Leage and Psaume described a dominant, X-linked condition which they named oro-facio-digital (OFD). This condition was split into at least nine syndromes, the more common being OFD I. We report a girl with OFD I syndrome followed up for 23 years. Clinical examination showed cleft palate, median cleft lip, multiple oral frenulae, lobulated tongue and brachydactyly. There was no mental retardation. At 19 years of age, renal insufficiency appeared. A renal transplantation was performed. The parents were unaffected. An older brother had hydrocephaly, bilateral optic atrophy and mental retardation. A younger sister is unaffected. A mutation, an insertion of a G leading to a frameshift in the OFD 1 gene, was identified in this patient.
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4/47. A giant teratoma of the tongue.

    teratoma of the tongue is an extremely rare tumour of the oral cavity, which is composed of ectoderm, mesoderm and endoderm with differentiation to identifiable tissues and organs. We described a female neonate with a giant teratoma of the tongue and an incomplete cleft palate. The tumour was attached to 1/3 right anterior of her tongue and its largest diameter was 13 cm. Histopathologically, it consisted of stratified squamous epithelium on the surface, and ciliated prismatic epithelium, cartilage and neuroglial tissue. Two years after excision there was no sign of recurrence.
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5/47. Pierre Robin sequence in a patient with ectrodactyly-ectodermal dysplasia-clefting syndrome: a case report and review of the literature.

    Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare condition first identified in 1970. The majority of cases are reported to be autosomal dominant with variable expression and penetrance. The most common clinical feature is ectodermal dysplasia. Ectrodactyly, cleft lip with or with out cleft palate and urogenital anomalies are also main clinical features of EEC syndrome. Pierre Robin (PR) sequence has the clinical findings of micro-retrognathia, retroposed tongue (glossoptosis), cleft of the secondary palate, and upper airway obstruction. Etiologically PR sequence is heterogeneous. It has been reported that less than 20% of cases are isolated, non-syndromic PR sequence. We present a case of a newborn male who was referred to our craniofacial clinic with EEC syndrome and PR sequence. This case represents a unique clinical association. We found no other reports in the literature of these two clinical entities occurring together. Upper airway obstruction of PR sequence, secondary to glossoptosis and micro-retrognathia, gives this association clinical relevance. In addition, this clinical association may represent a new gene locus associated with EEC syndrome.
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6/47. cleft palate with congenital midline teratoma.

    A 4-year-old girl presented with hypernasal speech. On examination, in addition to velopharyngeal incompetence noted by speech examination, a palatal tumor was found in between the cleft palate. The computed tomographic and magnetic resonance imaging examinations were suspicious for midline teratoma. Total excision of the nasopalatal tumor was performed, and the pathology revealed benign teratoma. After 6 months of follow-up, no recurrence was noted. A two-flap palatoplasty with a superior-based pharyngeal flap was then performed to reconstruct the palatal defect and to correct the velopharyngeal incompetence. An anterior oronasal fistula developed after the operation, but a tongue flap was transferred to cover the defect successfully. The purpose of this case report is to present the relationship between a congenital midline nasopalatal tumor and cleft palate.
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7/47. Craniofacial morphology in a patient with Simpson-Golabi-Behmel syndrome.

    OBJECTIVE: We present the case of a 6-year-old boy with a coarse face, cleft palate, and malocclusion with anterior open bite who had been diagnosed with Simpson-Golabi-Behmel syndrome. Morphology of the craniofacial structures was examined on the basis of conventional radiographs, three-dimensional (3D) computed tomography (CT) and magnetic resonance (MR) scanning. PATIENT: This patient had 13 ribs on the right side, slight scoliosis, supernumerary nipples, a coarse face, hypertelorism, a short broad upturned nose, a wide mouth, a straight facial profile with incompetence of the lips, midline groove of tongue, and cleft palate. The patient also had severe anterior open bite, a distal step-type molar relationship, five congenitally missing teeth, and a supernumerary tooth. Lateral cephalometric analysis revealed a large anterior cranial base, a large maxilla and mandible, a large inferior face height, and skeletal Class I jaw relationship with a high mandibular plane angle and large gonial angle. The 3D CT image showed a large cranium, a long face height, and prominent skull sutures. The MR image showed a large tongue, midline groove of the tongue, and a small space between tongue and palate.
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8/47. Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features.

    We report a patient with severe mental retardation (MR), microcephaly, Dandy-Walker malformation, bilateral lip/palate clefts, hypertrophied sublingual frenulum, lobular tongue, absent thumbs, and other skeletal abnormalities, including Y-shaped metacarpals and urogenital abnormalities. High-resolution karyotype and subtelomeric fluorescence in situ hybridization were normal. We propose that his clinical picture is most consistent with Juberg-Hayward or orocraniodigital syndrome. Several clinical features present in our patient (unilateral distal displacement of elbow position, second-site radioulnar synostosis, bilateral Y-shaped metacarpal, lobular tongue, hypertrophic frenuli, Dandy-Walker malformation) have not previously been reported in this condition, thus expanding the phenotypic spectrum of this rare condition. The presence of these novel findings suggests possible overlap with other syndromes, such as orofaciodigital and Malpuech syndromes.
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9/47. Variations in expression of oral-facial-digital syndrome (type I): report of two cases.

    Two case reports are presented, both clearly demonstrating the diagnosis of oral-facial-digital syndrome, type I, but widely different in the expression of the condition. The first patient showed only mild expression of the syndrome. On examination at the age of 4 years there were no obvious extra oral signs, intraoral findings included the presence of supernumeraries in the primary dentition, spacing in two areas and the presence of an extra frenum. The second can be considered as a more severe case. This patient had many of the typical manifestations, including frontal bossing, a degree of zygomatic hypoplasia and clinodactyly. Orally, the most striking finding was a bilateral cleft palate which had not been diagnosed prior to examination at the age of 6 years. Other findings included multiple frena and a bifid tongue.
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10/47. Combined anomalies of the palate in Mohr syndrome: is preoperative electromyography of the palate useful?

    The authors present a girl with typical characteristics of oral-facial-digital syndrome type II (Mohr syndrome) with a cleft soft palate and pendulous tongue nodules. Because of feeding difficulties, electromyography was performed of both morphologically identical halves of the soft palate. One half showed a normal muscle action potential and in the other half electrical silence was registered. Exploratory surgery during palatoplasty showed a fatty hamartoma in the half of the palate in which no electric potentials had been registered.
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