Cases reported "Klippel-Feil Syndrome"

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11/31. klippel-feil syndrome.

    klippel-feil syndrome is characterized by congenital fusion of two or more cervical vertebrae and may be associated with other organ system anomalies. Although many congenital anomalies are of little clinical importance to the emergency physician, klippel-feil syndrome is associated with both spontaneous and progressive neurologic sequelae as well as a predisposition for serious neurologic injury after relatively minor neck trauma. Such patterns of skeletal abnormalities as an unstable fusion pattern, craniocervical anomalies, and associated spinal stenosis are associated with a higher risk of neurologic sequelae. We report the case of a patient with a previously undiagnosed type II klippel-feil syndrome who presented after neck trauma to illustrate how further diagnostic imaging modalities may be required to elucidate the presence or absence of acute injury. Key considerations in the emergency management of such patients include radiographic evaluation for hypermobile cervical segments, the anticipation of difficult tracheal intubation, and proper follow-up and referral because of the associated other organ system anomalies and progression of the skeletal pathology.
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12/31. The klippel-feil syndrome: implications for Naval service.

    The Klippel-Feil anomaly is usually discovered by serendipity on cervical spine x-rays. Although it may encompass many vertebrae, the typical case is an isolated fusion of two vertebrae. Nearly 1% of the general population has this anomaly and its incidence in the Navy is likely similar. Increased susceptibility to spinal cord injury has been reported in individuals with the klippel-feil syndrome. Unusual stress on the head and neck inherent to various aspects of naval service place such persons at risk for debilitating or fatal injury. An algorithm for evaluating suspected klippel-feil syndrome is provided.
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13/31. Monozygotic twins discordant for klippel-feil syndrome.

    In a pair of Japanese monozygotic twins, one manifested klippel-feil syndrome, a short neck with C(1-4) vertebra fusion, whereas the other was normal. The discordance between the twins suggests that klippel-feil syndrome results in part from a postzygotic somatic mutation or intrauterine environmental factors.
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14/31. Cervico-oculo-Acoustic syndrome in a male with consanguineous parents.

    BACKGROUND: The cervico-oculo-acoustic syndrome comprises Klippel-Feil anomaly, sensorineural deafness and Duane's retraction syndrome. Polygenic, autosomal dominant, and X-linked inheritance have been hypothesized. The disorder has rarely been reported in males. CASE REPORT: A 42-year-old male, born of consanguineous parents, presented with Duane's syndrome, mixed hearing loss, C2-C3 fusion, neck stiffness, and right facial palsy. A variety of cardiac, neurological and urogenital anomalies occurred in his relatives. The electro-oculographic studies showed impaired abduction and adduction of the right eye and impaired abduction of the left eye. Vergence, vertical eye movements and peripheral vestibular responses were normal. Somatosensory evoked potentials showed absence of the N13 peak and brainstem auditory evoked potentials bilateral delay of the I-III interpeak latencies. CONCLUSIONS: consanguinity of the patient's parents, not previously reported, suggests autosomal recessive inheritance, but autosomal dominant inheritance is indicated by the family history. The pattern of the oculomotor deficit is consistent with bilateral dysplasia of the abducens nuclei with preserved internuclear neurons in the right abducens nucleus. Neurophysiological investigations revealed lower brainstem and cervical cord involvement.
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15/31. klippel-feil syndrome in two Ethiopian children.

    klippel-feil syndrome or congenital short neck is a rare malformation in which there is congenital fusion of two or more vertebrae in the cervical region. In some patients it is associated with other congenital malformations in the skeleton, lung and heart. Two cases of klippel-feil syndrome in children who also had cardiovascular malformations are described and the literature is reviewed.
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16/31. Cervical neuroschisis and meningocoele manque in type I (no neck) klippel-feil syndrome.

    A male child with type I (no neck) klippel-feil syndrome presented at birth with a transient and partial cord injury. Investigations failed to reveal spinal instability or foramen magnum compression. Subsequent deterioration led to investigations that demonstrated neuroschisis. A cervical meningocoele manque with cord tethering was found at exploration and untethering reversed the deficit. The surgical pathology of the cervical cord is described.
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17/31. 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.
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18/31. Cervico-oculo-acusticus (Wildervanck's) syndrome: a clinical variant of Klippel-Feil sequence?

    A 7-year-old female child with phenotype of Cervico-Oculo-Acousticus (Wildervanck's) syndrome is presented. In addition to fusion of multiple cervical vertebrae with short neck, abducens nerve palsy and deafness, the child showed severe growth and bone delay, renal abnormalities and slight mental retardation. The presence of such malformations seems to suggest that Wildervanck's syndrome is a clinical variant of Klippel-Feil sequence. Both conditions usually have sporadic occurrence with female prevalence, more consistent for cervico-oculo-acousticus syndrome. The possibility of dominant inheritance has been postulated for both, autosomal for Klippel-Feil, autosomal or X-linked with lethality in hemizygous for Wildervank's one. An environmental etiology, due to a vascular disruption sequence during embryonic development, has been noted in Klippel-Feil, as in Moebius and poland sequences. A combination of defects (Klippel-Feil and Moebius) could induce the more complex phenotype observed in Wildervanck's syndrome.
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19/31. Sudden onset of velopharyngeal insufficiency in klippel-feil syndrome.

    A 17-year-old girl with Klippel-Feil vertebral anomalies presented with sudden onset of VPI and hoarseness after a minor neck torsion injury. Her symptoms were felt to be due to compression of the brain stem by the odontoid process (through basilar invagination). The VPI and hoarseness responded to conservative management with oral steroids.
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20/31. Fibreoptic intubation in klippel-feil syndrome.

    A patient with klippel-feil syndrome who underwent abdominal surgery is presented and the anomaly reviewed. The anatomical abnormality and potentially unstable neck provide a potentially difficult tracheal intubation which was undertaken using an awake fibreoptic technique. The role of the fiberscope and the advantage of pre-operative assessment of the difficult airway are discussed.
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