Disease relevance of KFM

• We conclude that in patients with alcohol-induced hyperhomocysteinaemia the KFM is a useful tool to predict alcohol withdrawal seizures [1].
• BACKGROUND: Neurologic deficits in patients with Klippel-Feil syndrome usually are attributed to direct compression of neuronal structures or hypoperfusion secondary to compression of the vertebral arteries by bony abnormalities [2].
• Intervertebral disk calcification and spine fusion were observed in patients with Klippel-Feil syndrome, myositis ossificans progressive, juvenile rheumatoid arthritis, ankylosing spondylitis, and surgical spine fusion [3].
• Posterior fossa dermoid cysts and the Klippel-Feil syndrome [4].
• We analysed 147 women with breast cancer treated with adjuvant RT, and who were included in the KFS 00539-9-1997/SKL 00778-2-1999 prospective study aimed at evaluating the predictive value of CD4 and CD8 T-lymphocyte apoptosis for the development of radiation-induced late effects [5].

Psychiatry related information on KFM

• Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies. A new syndrome [6]?

High impact information on KFM

• The four-generation KF2-01 family present with dominant form of the KFS where the sequence of vertebral fusion was confined to the cervical spine (always including the C2-3 fusion and reduced expression of the C4-5 and C6-7 fusions) in association with malformation of laryngeal cartilages and mild-to-severe vocal impairment [7].
• Split cervical spinal cord with Klippel-Feil syndrome: seven cases [8].
• Rubral lateropulsion due to vertebral artery dissection in a patient with Klippel-Feil syndrome [2].
• 1. Electromyographic (EMG) recordings have been made from upper limb muscles in a patient with well-defined congenital mirror movements occurring in association with Klippel-Feil syndrome and the results compared to those obtained in normal control subjects [9].
• Mutations in PAX1 may be associated with Klippel-Feil syndrome [10].

Chemical compound and disease context of KFM

• Myelography demonstrated cervical spinal canal stenosis with retrospondylosis from C3 through C5 and a Klippel-Feil malformation [11].
• At admission, the MRI showed a basilar impression accompanied by Klippel-Feil syndrome of C4/5/6/7, but neurological symptoms of basilar impression were absent [12].
• METHODS: A 16.8-year-old KFS boy with occipitalization of C1 and fusion of C2-C3 and C4-T1 presented with myelopathy, severe cord compression, and myelomalacia stemming from a left-sided herniated cervical disc at C3-C4 with onset following an 8-foot high rooftop jump [13].

Biological context of KFM

• A mother with the Klippel-Feil syndrome, congenital hydrocephalus and increased intracranial pressure presented for delivery by Caesarean section at 33 weeks because of pre-eclampsia [14].
• The combination of Klippel-Feil syndrome and upper limb deficiency shows that the defect occurred between the 4th and 5th week of gestation [15].
• MATERIAL AND METHODS: In a cross-sectional study, the authors reviewed data from 57 patients with Klippel-Feil syndrome treated over 25 years at the Department for Orthopedics of the University of Heidelberg [16].
• The first KFS gene (SGM1) locus identified on chromosome 8 segregates with vertebral fusions and associated vocal impairment within the KF2-01 family (Clarke et al., '94, '95) [17].
• Multiple anesthetic challenges in a patient with Klippel-Feil Syndrome undergoing cardiac surgery [18].

Anatomical context of KFM

• Klippel-Feil syndrome is characterized by congenital fusion of two or more cervical vertebrae and may be associated with other organ system anomalies [19].
• CLINICAL PRESENTATION: A case of an intradural extramedullary dermoid cyst located anterior to the spinal cord and a syringomyelic cavity at the level of block vertebrae in a 43-year-old woman with Klippel-Feil syndrome is presented [20].
• Prolapse of the mitral valve in Klippel-Feil syndrome [21].
• The congenital spinal and cord abnormalities found in this case support the hypothesis that the Klippel-Feil syndrome may be associated with variable duplication of the spinal cord and that mirror movements may be related to impairment of pyramidal tract decussation [22].
• Although histologic examination showed normal differentiation of the epithelium in all graft types, the involucrin expression pattern of KFS was most similar to that of normal epithelium [23].

Associations of KFM with chemical compounds

• The receptor antagonists caffeine, the xanthine derivative KFM 19 and the carbamazepine analogue oxcarbazepine displaced [3H]DPCPX binding homogeneously without any marked difference between the individual layers in the investigated hippocampal subregions (n = 4) [24].
• Antagonism of endogenous adenosine at A1 receptors may thus explain part of the clinical effects of caffeine in humans and possibly exclusively the behavioral effects of KFM 19 in non-human primates [24].

Other interactions of KFM

• Case report: Klippel-Feil syndrome with coexistent hypoparathyroidism [25].
• Predisposing conditions included rheumatoid arthritis (two patients), Klippel-Feil syndrome (one patient), and congenital occipitocervical instability (one patient) [26].
• Frontonasal dysplasia in the Klippel-Feil syndrome: a new associated malformation [27].
• Klippel-Feil syndrome, the triad of short neck, low occipital hairline, and limitation of movement of the head, is often associated with other serious congenital anomalies of the nervous, urogenital, and cardiovascular, and respiratory systems [28].
• The Klippel-Feil syndrome is usually associated with sensorineural deafness and reports of conductive or mixed deafness are rare [29].

Analytical, diagnostic and therapeutic context of KFM

• A 34-year-old woman with severe kyphoscoliosis, an immobile cervical spine, and short stature due to the Klippel-Feil syndrome presented for elective Caesarean section [30].
• 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 [19].
• General anesthesia is best avoided in cases of Klippel-Feil syndrome where tracheal intubation is potentially difficult [31].
• Of thirty-nine patients with Klippel-Feil syndrome, twenty-five (64 per cent) had significant genitourinary-tract anomalies demonstrated by intravenous urogram and physical examination [32].
• Thoracic epidural anesthesia for bilateral reduction mammoplasty in a patient with Klippel-Feil syndrome [31].

References