1/8. 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 = 1keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
2/8. 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 = 0.088215028157293keywords = palate, cleft (Clic here for more details about this article) |
3/8. Klippel-Feil anomaly, cleft palate, and bifid tongue.The Klippel-Feil anomaly is a condition characterized by congenital vertebral fusion, which may be associated with a short neck and a low posterior hairline. In the patient presented here, there was congenital cervical fusion, cleft palate, and bifid tongue. The occurrence of cervical fusion and cleft palate has been reported previously, but this is the first report, to the author's knowledge, of these malformations being accompanied by a bifid tongue. The embryological association between Klippel-Feil anomaly and cleft palate has been alluded to on few occasions. Investigators have suggested that the short, fused neck limits movement of the head and thus of the tongue from between the palatal shelves. This report postulates that the mechanism is more complex and that it is based on a change in structural relations between certain key areas involved in the background of palatal shelf elevation.- - - - - - - - - - ranking = 7keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
4/8. Craniofacial and extracranial malformations in the klippel-feil syndrome.The klippel-feil syndrome is of special interest to those concerned with cleft palate for the following reasons: (1) cleft palate is a commonly associated finding: (2) malformations of the cervical vertebrae, in the absence of other stigmata of the syndrome, are a common finding in cleft palate; (3) anomalies of the upper cervical column and cranial base can impede velopharyngeal valving; (4) hearing loss is a common finding in the syndrome irrespective of the presence or absence of cleft palate; (5) cervical anomalies may complicate endotracheal intubation or head extension during pharyngeal surgery, and (5) the short neck may be the primary defect that impedes palatal fusion. This report reviews the literature on 339 patients and seven new cases in an effort to catalog the cranial and extracranial malformations associated with the syndrome and to consider the mode of genetic transmission.- - - - - - - - - - ranking = 3.0487589580841keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
5/8. Otological findings in cervico-oculo-auditory dysplasia.A case of congenital ear dysplasia, combined with cleft palate and anomalies of the cervical spine and eyes, is described. The case belongs to the group of cervico-ocular-auditory dysplasias (klippel-feil syndrome). A strange feature in our case was the co-existence of conductive hypakousia in the right ear, due to congenital fixation of the stapes footplate, with perceptive deafness in the left ear, due to dysplasia of the cochlea and internal auditory meatus. The conductive hypakousia in the right ear was successfully treated by stapedectomy. A review of the literature on the klippel-feil syndrome has shown that, in some of them the conductive deafness was unexplained, while in others the deafness was due to dysplasia of the ossicular chain or to a combination of dysplasias of the labyrinth and middle ear in the same ear. The co-existence of middle ear dysplasia in one ear with contralateral dysplasia of the inner ear and internal auditory meatus is rare.- - - - - - - - - - ranking = 1keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
6/8. Wildervanck syndrome.We report a case of the Wildervanck (cervico-oculo-acoustic) syndrome exhibiting Klippel-Feil anomaly, congenital sensorineural deafness and bilateral sixth nerve palsy. Associated anomalies included short stature, microcephaly, mental retardation, and cleft palate.- - - - - - - - - - ranking = 1keywords = cleft palate, palate, cleft (Clic here for more details about this article) |
7/8. Complete bipartition of the atlas in the klippel-feil syndrome. A radiologically illustrated case report.A patient with the klippel-feil syndrome is described who presented with pain in the neck after a trauma. No fractures were found. Instead, a midline cleft in both the anterior and posterior atlantic arches was found which represents an extremely rare congenital anomaly.- - - - - - - - - - ranking = 0.039456070073146keywords = cleft (Clic here for more details about this article) |
8/8. Autosomal dominant Klippel-Feil anomaly with cleft palate.Klippel-Feil anomaly is characterized by the fusion of two or more cervical vertebrae. Most cases are sporadic but dominant and recessive inheritance are well described. Associated anomalies such as a cleft palate are common. We describe a unique family with autosomal dominantly inherited Klippel-Feil anomaly in six individuals associated with a cleft palate in four. One patient, a child, has a cleft palate only but may develop radiological cervical fusion with time, as documented in two other family members.- - - - - - - - - - ranking = 7keywords = cleft palate, palate, cleft (Clic here for more details about this article) |