1/39. Tessier type VI-VII cleft combination associated with congenital bimaxillary fusion and anophthalmia.Congenital intermaxillary fusion is a rare anomaly. Combination of the anomaly with any type of facial cleft is extremely rare. death in a majority of these patients as a result of feeding and aspiration problems in early life may have caused the reports to be limited. In this article a 5-year-old patient, probably the first in the literature having Tessier type VI-VII facial cleft combination associated with bimaxillary fusion and anophthalmia on the right side, is presented. The patient has survived on fluid meal through a very small opening for 5 years. The features of the case are presented, and the time and method of the management of such a rare anomaly are discussed with a review of the literature.- - - - - - - - - - ranking = 1keywords = cleft (Clic here for more details about this article) |
2/39. Transmission of the dysgnathia complex from mother to daughter.We report the first observation of parent-to-child transmission of dysgnathia, a rare disorder characterized by severe mandibular hypoplasia or agenesis, ear anomalies, microstomia, and microglossia. Patient 1 was noted prenatally by ultrasound to have severe micrognathia and, after birth, abnormal ears with canal stenosis and non-contiguous lobules located dorsally to the rest of the pinnae, normal zygomata, severe jaw immobility and microstomia with an opening of only 4 to 5 mm, hypoplastic tongue, and cleft palate. The 21-year-old mother of patient 1 was born with severe micrognathia requiring tracheostomy, microglossia, cleft palate with filiform alveolar bands, abnormal pinnae, and decreased conductive hearing. Dysgnathia is thought to result from a defect in the development of the first branchial arch. A similar phenotype has been seen in Otx2 haplo-insufficiency and endothelin-1 homozygous null mice, suggesting that these genes contribute to branchial arch development. Our report of a long-surviving mother and her daughter with non-syndromal dysgnathia may lead to identification of the molecular basis of these findings and provide insight into the genetics of first branchial arch formation. The survival of patient 1 and patient 2 beyond the neonatal period has implications for improvements in prenatal diagnosis and counseling and for neonatal treatment of this condition.- - - - - - - - - - ranking = 1.1819431870918keywords = cleft palate, cleft, palate (Clic here for more details about this article) |
3/39. Incomplete branchial arch syndromes, branchial cleft cyst and vascular hamartoma in a patient with multiple neurofibromatosis.A case report with simultaneous occurrence of neurofibromatosis, incomplete branchial arch syndromes, a branchial cleft cyst and a pseudocyst in connection with a vascular hamartoma anterior to the right ear of a 38-year-old woman is presented. A possible common pathogenesis of the vascular hamartoma and the incomplete branchial arch syndromes as well as that of the neurofibromatosis is suggested. The pseudocyst is interpreted as a branchial cleft cyst showing inflammatory changes due to a pharyngitis shortly before the preauricular tumor appeared.- - - - - - - - - - ranking = 1keywords = cleft (Clic here for more details about this article) |
4/39. Microvascular temporomandibular joint and mandibular ramus reconstruction in hemifacial microsomia.Microvascular temporomandibular joint (TMJ) and mandibular ramus reconstruction was performed in a 4-year-old hemifacial microsomia patient with multiple craniofacial and extracranial anomalies (goldenhar syndrome). Her major craniofacial anomalies included bilateral cleft lip and palate, left macrostomia, left microtia, and complete absence of the left vertical mandibular ramus and TMJ. Most of her other anomalies had been corrected surgically before TMJ and vertical mandibular ramus reconstruction, which was accomplished with a metatarsophalangeal (MTP) joint transplantation. The MTP joint was placed in hyperextended position in the skull base inserting the proximal phalanx under the remnants of the zygomatic arch and replacing the vertical mandibular ramus with the metatarsal bone. Straight mouth opening, correction of the midline, and normalized lateral movements of the mandible were accomplished. The graft includes two epiphyseal plates, which should maintain growth of the transplant. During the follow-up period (16 months) the achieved results have been maintained without adverse effects. The present technique appears to be a promising alternative in the treatment of children with Pruzansky type 3 hemifacial microsomia.- - - - - - - - - - ranking = 0.26071779686998keywords = cleft, palate (Clic here for more details about this article) |
5/39. De novo inv(2)(p12q34) associated with Klippel-Feil anomaly and hypodontia.The present case report describes a patient with Klippel-Feil anomaly (KFA) and oligodontia, carrying a de novo pericentric inversion of chromosome 2 (p12q34). KFA is characterised by congenital vertebral fusion of the cervical spine and a wide spectrum of associated anomalies. It therefore constitutes a heterogenous group of clinical conditions and has been classified morphologically, although its aetiology remains unclear. We present an 18-year-old female with KFA, associated with congenital impairment of hearing, psychomotor retardation, speech limitation, short stature, spinal scoliosis, facial asymmetry and latent hypothyroidism. No renal anomaly or heart disease was present. In addition, she exhibited oligodontia of both the deciduous and permanent dentition, a unique characteristic that has not yet been reported in any non-cleft palate KFA case. CONCLUSION: The current report of a patient with oligodontia and an inversion on chromosome 2 may aid in the identification of novel genes for oligodontia.- - - - - - - - - - ranking = 0.5909715935459keywords = cleft palate, cleft, palate (Clic here for more details about this article) |
6/39. Modified costochondral graft osteotomy in hemifacial microsomia.Hemifacial microsomia is the second most common facial clefting condition after cleft lip and palate. The deformity affects the skeleton and soft tissues in the temporal region of the affected side, although the degree of involvement is markedly variable. We describe a modification of surgical technique in a skeletally mature case who had previously undergone mandibular reconstruction with a costochondral graft.- - - - - - - - - - ranking = 0.42738446353665keywords = cleft, palate (Clic here for more details about this article) |
7/39. Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion.Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and rarely, the endocrine system. CATCH 22 is a medical acronym for cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia and a variable deletion on chromosome 22q11. The deletion within chromosme region of 22q11 may occur in patients with dysmorphologic and cardiological syndromes: digeorge syndrome, velo-cardiofacial syndrome and conotruncal anomaly face syndrome. We report a newborn infant who had asymmetric crying facies associated with congenital hypoparathyroidism, severe neonatal hypocalcemia and tetralogy of fallot. Genetic confirmation of chromosome 22q11 deletion was made.- - - - - - - - - - ranking = 0.5909715935459keywords = cleft palate, cleft, palate (Clic here for more details about this article) |
8/39. prenatal diagnosis of hemifacial microsomia and ipsilateral cerebellar hypoplasia in a fetus with oculoauriculovertebral spectrum.Oculoauriculovertebral spectrum, or goldenhar syndrome, is characterized by varying degrees of prevalently unilateral underdevelopment of craniofacial structures (orbit, ear, mandible) and spinal anomalies. We report the prenatal ultrasonographic diagnosis made at 24 weeks' gestation in a family with a negative history. The prenatal diagnosis was suspected due to the presence of marked hemifacial microsomia and moderate ipsilateral cerebellar hemisphere hypoplasia in the absence of facial clefting.- - - - - - - - - - ranking = 0.16666666666667keywords = cleft (Clic here for more details about this article) |
9/39. Dento-skeletal implications of klippel-feil syndrome [a case report].klippel-feil syndrome is a disorder characterized by failure of normal segmentation of any two of the seven cervical vertebrae. It presents with a high frequency of cleft lip and/or palate and occasional oligodontia in both the primary and permanent dentition, craniofacial asymmetry, maxillary constriction and velopharyngeal insufficiency.- - - - - - - - - - ranking = 0.26071779686998keywords = cleft, palate (Clic here for more details about this article) |
10/39. oral manifestations during chemotherapy for acute lymphoblastic leukemia: a case report.A 14-year-old, male patient was referred for the treatment of mucositis, idiopathic facial asymmetry, and candidiasis. The patient had been undergoing chemotherapy for 5 years for acute lymphoblastic leukemia. He presented with a swollen face, fever, and generalized symptomatology in the mouth with burning. On physical examination, general signs of poor health, paleness, malnutrition, and jaundice were observed. The extraoral clinical examination showed edema on the right side of the face and cutaneous erythema. On intraoral clinical examination, generalized ulcers with extensive necrosis on the hard palate mucosa were observed, extending to the posterior region. Both free and attached gingivae were ulcerated and edematous with exudation and spontaneous bleeding, mainly in the superior and inferior anterior teeth region. The tongue had no papillae and was coated, due to poor oral hygiene. The patient also presented with carious white lesions and enamel hypoplasia, mouth opening limitation, and foul odor. After exfoliative cytology of the affected areas, the diagnosis was mixed infection by candida albicans and bacteria. Recommended treatment was antibiotics and antifungal administration, periodontal prophylaxis, topical application of fluor 1.23%, and orientation on and control of proper oral hygiene and diet during the remission phase of the disease.- - - - - - - - - - ranking = 0.094051130203316keywords = palate (Clic here for more details about this article) |
| | Next -> |