1/144. Mandibular distraction osteogenesis in a neonate. Children with craniofacial anomalies are predisposed to airway obstruction and frequently require airway intervention. tracheotomy is performed when the airway obstruction is severe and refractory to other less invasive interventions. tracheotomy is associated with significant morbidity, and there is a trend noted in the literature toward achieving earlier decannulation by the institution of definitive structural changes to the mandible. Mandibular distraction osteogenesis has been shown to alleviate airway obstruction in the pediatric population. We report a case in which mandibular distraction osteogenesis was successfully carried out in a neonate with acute airway obstruction at birth as a result of combined Pierre Robin sequence and klippel-feil syndrome. After 1 year, the patient still had an adequate airway with tolerable scarring and no neurologic sequelae. ( info) |
2/144. kallmann syndrome (hypogonadotropism-anosmia) and Klippel-Feil anomaly in the same patient. A 27-year-old female is described with Kallman syndrome and Klippel-Feil anomaly. This is thought to be the first report of the coexistence of these two conditions in the same patient. ( info) |
| A 28-year-old woman with a deformed thorax and kyphoscoliosis associated with klippel-feil syndrome developed respiratory failure with pulmonary hypertension. Pulmonary 133Xe ventilation and 99mTc-MAA perfusion scintigraphies showed maldistributions of lung ventilation and perfusion, and noticeably delayed 133Xe washout from the lungs. Dynamic breathing MR imaging showed poor and/or asynchronous respiratory movements of the chest wall and diaphragm. These findings indicate that the perfusion-ventilation imbalance, the decreased ventilatory turnover, and expiratory flow from the alveolar space partly derived from the impaired respiratory mechanics may be responsible for the respiratory complications in this patient. ( info) |
4/144. Bilateral thoracic bifurcation of the common carotid artery associated with Klippel-Feil anomaly. We report the case of a 72-year-old man with bilateral intrathoracic carotid bifurcations associated with a Klippel-Feil anomaly. The left and right carotid bifurcations were located at levels corresponding to the second and fourth thoracic vertebrae, respectively. A possible association between low carotid bifurcation and the Klippel-Feil anomaly is suggested. ( info) |
| A 27-year-old female is described with klippel-feil syndrome, thenar hypoplasia, carpal anomalies and situs inversus viscerum. Other anomalies occurring with klippel-feil syndrome are discussed. ( info) |
6/144. Thoracic epidural anesthesia for bilateral reduction mammoplasty in a patient with klippel-feil syndrome. General anesthesia is best avoided in cases of klippel-feil syndrome where tracheal intubation is potentially difficult. The syndrome features severe abnormalities of the neck and upper thoracic spine, which may also lead to difficulties with neuraxial blockade. We describe the use of epidural anesthesia for bilateral reduction mammoplasty in a patient with this condition. ( info) |
| We present the second case of klippel-feil syndrome in association with a posterior fossa dermoid cyst extending through the occipital bone and presenting as a suboccipital subcutaneous mass. We describe its radiographic, CT, and MRI appearances as well as on MRI diffusion-weighted images. Posterior cranial fossa dermoid cysts and sinuses should be added to the list of congenital abnormalities which must be sought in patients with klippel-feil syndrome. diffusion-weighted images of brain may differentiate these masses from cerebral spinal fluid collections. ( info) |
8/144. No neurological involvement for more than 40 years in klippel-feil syndrome with severe hypermobility of the upper cervical spine. We report the case of a 42-year-old woman with klippel-feil syndrome, who showed severe hypermobility of the upper cervical spine without neurological involvement for more than 40 years. Radiographs revealed the presence of the odontoid bone and fusion of the atlas, odontoid bone, and occiput. Congenital fusion was present from the axis to C5 as a block vertebra. Lateral flexion-extension radiographs revealed severe hypermobility at the junction between the odontoid bone and the axis. Prophylactic surgical stabilization has been recommended in patients with severe hypermobility, but adjacent disc problems may possibly occur at the unfused levels in the future. We believe that early prophylactic stabilization should not be indicated for klippel-feil syndrome without neurological involvement only because of hypermobility. ( info) |
| klippel-feil syndrome is characterized by a variable degree of congenital fusion of the cervical spine. It can exist in association with other mesodermal deformities affecting several systems. Symptomatic cervical disc prolapse in the context of the syndrome is well documented in young adults. We present a case of a 5-year-old girl with the syndrome, who presented with mild motor developmental delay and cervical cord compression from a prolapsed C3/4 intervertebral disc, seen on MR scan. She also had posterior elements fused from C-2 to C-4. She improved after cervical discectomy. The presence of degenerative disc disease at such a young age and at a level mechanically protected by posterior element fusion indicates a congenital primary defect, rather than mechanical stress fatigue. ( info) |
| OBJECTS: Dermoid cysts accompanied by klippel-feil syndrome are uncommon, and the coincidence of these two rare diseases suggests an interesting idea about the pathogenesis of a dermoid cyst, which the authors consider with reference to an actual case. A posterior fossa dermoid cyst with dermal sinus and klippel-feil syndrome are reported in the same patient. A 23-year-old woman was admitted to hospital with progressive headaches. methods: Cervical radiography demonstrated C4-5 vertebral fusion, and magnetic resonance imaging revealed a large cystic mass in the midline of the posterior fossa. The cystic lesion was totally removed along with the accompanying dermal sinus. It was histopathologically diagnosed as a dermoid cyst. CONCLUSION: The rare coincidence of a dermoid cyst and klippel-feil syndrome suggests the possibility that a disturbance in the mesoderm before the fourth week of gestation might play an important part in the causation of dermoid cyst. ( info) |