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Background Because of the broad range of findings, Klippel-Feil syndrome has also been referred to as Klippel-Feil sequence and Klippel-Feil anomaly. It is classified into 3 types that differ in degree and location of vertebral fusion. Another contemporary classification also includes patterns of inheritance. Case Report A 19-year-old male needed panoramic imaging to evaluate his third molars. However, because of Klippel-Feil disfigurement, his head and neck posture did not fit into various panoramic imaging units. With an altered oblique head positioning in a cone beam computed tomography (CBCT) scanner (NewTom VGi), his jaws were scanned. The CBCT volumetric data were then realigned and reconstructed in CBCT viewing software (InVivoDental 6.0). These reconstructions were appropriate to assess the indicated dental status and to update the assessment of the cervical vertebral development—a limiting condition of Klippel-Feil syndrome. Definitive Interpretation The scan data were able to provide the indicated periapical assessment, particularly of the third molars. Postural compromises were also noted in the anterior alignment of the odontoid process–C1 articulation and their alignment to the clivus of the occipital bone. There was also cervical vertebral aplasia with complete fusion of C2-C7. These findings were contributory to his altered posture. Discussion of Imaging The availability of large volume CBCT scanners, with their larger footprint, scanning circumference, and larger scanning size area, provide an imaging option for patients with mental and physical disabilities. In the past, a single large field of view (FOV) CBCT scan has been purported by CBCT manufacturers to be a one-stop imaging solution for all extraoral imaging. Dosimetry data and FDA selection criteria have since contraindicated the use of large volume FOV scanning to replace standard periapical, panoramic, and cephalometric imaging. This case report supports the alternative use of CBCT to acquire standard extraoral images when standard imaging is not possible.

Background Various combinations of bony and soft tissue anomalies have been described at the craniovertebral junction (CVJ). These include posterior fossa dermoids (with or without dermal sinuses) associated with Klippel-Feil anomalies and dermoids (no previous reports of overlying dermal sinuses) associated with bony anomalies. Patients Two patients with a combination of CVJ anomalies are described. Results Both patients had a posterior fossa dermoid, dermal sinus, and occipitalized C1 arch. Furthermore, one patient had a complex bony CVJ anomaly, and the other had a Klippel-Feil anomaly in addition. The clinical presentation and management are elucidated. Conclusions Patients who present with any one of these lesions need to be evaluated for the existence of other congenital anomalies. These are complex malformations to treat.

This prospective study attempts to study the clinico-radiological differences between patients with syndromic AAD (SAAD), non-syndromic AAD (NSAAD), and AAD with Klippel-Feil anomaly (AADKFA) that may impact management.In 46 patients with AAD [SAAD (including Morquio, Down, Larson and Marshall syndrome and achondroplasia; n = 6); NSAAD(n = 20); and, AADKFS (n = 20)], myelopathy was graded as mild (n = 17, 37 %), moderate (15, 32.5 %) or severe (14, 30.5 %) based on Japanese Orthopaedic Association Score modified for Indian patients (mJOAS). Basilar invagination (BI), basal angle, odontoid hypoplasia, facet-joint angle, effective canal diameter, Ishihara curvature index, and angle of retroversion of odontoid and vertebral artery (VA) variations were also studied.Clinico-radiological differences were assessed by Fisher's exact test, and mean craniometric values by Kruskal-Wallis test (p value ≤ 0.05 significant)Incidence of irreducible AAD in SAAD (n = 0), NSA AD (11.55 %) and AADKFS (n = 18.90 %) showed significant difference (p = 0.01). High incidence of kyphoscoliosis (83 %) and odontoid hypoplasia (83 %) in SAAD, and assimilated atlas and BI in NSAAD and AADKFA groups were found. In AADKFA, effective canal diameter was significantly reduced(p = 0.017) with increased Ishihara index and increased angle of odontoid retroversion; 61 % patients had VA variations. Thirty-five patients underwent single-stage transoral decompression with posterior fusion (for irreducible AAD) or direct posterior stabilization (for reducible AAD). Postoperative mJOAS evaluation often revealed persistent residual myelopathy despite clinical improvement.Myelopathy is induced by recurrent cord trauma due to reducible AAD in SAAD, and compromised cervicomedullary canal diameter in NSAAD and AADKFA. SAAD in children may be missed due to incomplete odontoid ossification or coexisting angular deformities. In AADKFA, decisions regarding vertebral levels to be included in posterior stabilization should take into consideration intact intervening motion segments and compensatory cervical hyperlordosis. Following VA injury, endovascular primary vessel occlusion/stenting across pseudoaneurysm preempts delayed rehemorrhage.

Mullerian-duct aplasia, renal agenesis, and cervical somite dysplasia (MURCS) is a rare genetic disorder. Previously thought to be exclusive in females, there have now been a small number of case reports describing a male analogue. We describe a patient with obstructive azoospermia and Klippel–Feil anomaly.

Klippel-Feil syndrome (KFS) is characterized by the failure in segmentation of two or more vertebrae due to an abnormal division of the mesodermal somites and has been reported to be associated with cardiac and central nervous system anomalies. We report a rare occurrence of concurrent Klippel-Feil anomaly, tethering and dermoid cyst of dorsal spine masquerading Potts’ disease in an eighteen years old female. In rare instances the KFS can be associated with intracranial or spinal tumors, most frequently dermoid or epidermoid cysts. Key Words Congenital spinal malformation, Klippel-Feil syndrome, dermal sinus, dermoid cysts

Background Spinal neurenteric cysts, also known as endodermal or enterogenous cysts , are rare epithelium-lined structures of presumed endodermal origin. Congenital vertebral anomalies are frequently seen in patients with neurenteric cysts, most typically anterior spina bifida, butterfly vertebrae, and hemivertebrae. However, few series of intraspinal neurenteric cysts accompanied by Klippel-Feil syndrome have been reported previously. Case Description Our purpose is to present the clinical, radiological, and histological results of a 29-year-old patient with a spinal neurenteric cyst associated with Klippel-Feil syndrome and to review previous reported cases of neurenteric cysts associated with Klippel-Feil syndrome. In our patient, cervical radiography demonstrated C5-T1 vertebral fusion and magnetic resonance imaging revealed a large intradural cystic mass. The cystic lesion was removed successfully, and it was histopathologically diagnosed as a neurenteric cyst. Conclusion Neurenteric cysts should always be considered in the differential diagnosis of an intraspinal cystic mass seen in the setting of vertebral anomalies.

We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane retraction syndrome and deafness. Since the first case was reported in 1952, there have been more reports describing this triad, either complete or incomplete. Our patient had the complete triad of the syndrome along with cleft palate and short stature. Also, a review of the literature regarding this syndrome is presented here.

Klippel-Feil syndrome (KFS) is defined as congenital fusion of two or more cervical vertebrae and patients with KFS are frequently asymptomatic. However, these patients are especially prone to cervical cord injury after a minor fall or a major traumatic episode. We report an unusual case of KFS where the patient had disc prolapse between two Klippel-Feil segments and discuss the difficulties in the management of this case.

This is the first case description of the association of Klippel-Feil Syndrome (KFS), Tourette Syndrome (TS), Motor Stereotypies, and Obsessive Compulsive Behavior, with chromosome 22q11.2 Duplication Syndrome (22q11DupS). Neuropsychiatric symptoms in persons with 22q11.2 deletion, including obsessive compulsiveness, anxiety, hyperactivity, and one prior case report of TS, have been attributed to low copy number effects on Catechol-O-Methyltransferase (COMT). However, the present unique case of 22q11DupS and TS suggests a more complex relationship, either for low- or high-COMT activity, or for other genes at this locus.

Background Alterations in the normal sequence of development of müllerian ducts lead to a wide spectrum of reproductive tract abnormalities. A rare form of lack of development, regarding a short tract of the müllerian ducts, leads to the isolated agenesis of the uterine cervix. Anomalies identified among patients with müllerian agenesis include skeletal deformities (i.e., scoliosis of the spine and Klippel-Feil anomaly). Case presentation A 46 years old woman presenting cyphoscoliosis and very low stature (120 cm – 3,93 feet), came to our observation for acute pelvic pain; she also reported primary amenorrhoea associated with cyclic pelvic pain. Clinical and imaging evaluation, evidenced a blind vaginal duct of normal length, left cystic adnexal mass, and enlarged uterus with hematometra. FSH, LH, 17β estradiol and CA-125, karyotype and radiographic study of limbs and vertebral column were also evaluated. At laparotomy, a left ovarian cyst was found. Uterus ended at the isthmus; under this level a thin fibrous tissue band was found, joining the uterus to the vagina. Uterine cervix was replaced by fibrous tissue containing some dilated glands lined with müllerian epithelium. Karyotype resulted 46, XX. The described skeletal deformity, were consistent with Klippel-Feil syndrome. Conclusion We report a case of congenital scoliosis associated with müllerian agenesis limited to uterine cervix, association thus far seen only among patients with Mayer-Rokitansky-Kuster-Hauser syndrome (utero-vaginal agenesis). This case report supports the necessity to evaluate, for accompanying müllerian anomalies, all cases of congenital structural scoliosis in view of the possibility for many müllerian development abnormalities, if timely diagnosed, to be surgically corrected.

We report on a girl with Klippel-Feil anomaly, type A1 brachydactyly, and minor facial anomalies. She has an apparently balanced de novo reciprocal translocation between 5q11.2 and 17q23. The possible significance of this chromosomal abnormality is discussed.

Pacific Health Limited, Tauranga, New ZealandA unique Pro250Arg point mutation infibroblast growth factor receptor 3 (FGFR3)was initially reported by Bellus et al. [1996:Nat Genet 14:174–176] and the phenotypesubsequently by Muenke et al. [1997: Am JHumGenet60:555–564],Reardonetal.[1997:J Med Genet 34:632–636], and Graham et al.[1998: Am J Med Genet 77:322–329]. Theseauthors emphasized the pleiotropic natureof this form of coronal craniosynostosis,including brachydactyly with carpal and/or tarsal coalitions, with other anomalies atlower frequency. We report on a family withautosomal dominant coronal synostosis,segmentation and fusion anomalies of thevertebra and ribs, and Sprengel shoulderdue to the Pro250Arg mutation. We alsoreport a single case with an identical phe-notype without the mutation.

A 5-year-old girl with Klippel-Feil anomaly and bimanual polydactyly of triphalangeal thumb is described. The main findings include--in addition to the classical congenital fusion of cervical vertebrae and the clinical triad of short neck, limitation of head and neck movement and low-set posterior hairline--several associated abnormalities: scoliosis, spina bifida occulta, absence of ribs, conductive hearing loss, mirror movements, unilateral renal ectopia with dilation of the collecting system, and microtia. The hand malformation appears to represent a previously unreported defect associated with Klippel-Feil anomaly.

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.

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.

A boy is described with Fanconi anemia (FA) and Klippel-Feil anomaly. This suggests the diagnosis of FA should be considered in patients with vertebal malformations as well as other suggestive congenital anomalies.

Alcohol is the most frequent and most important teratogenic noxa for the embryo and fetus. It may lead to deformation of all cells and organs. A case of Klippel-Feil anomaly associated with fetal alcohol syndrome is described. The diagnosis of Klippel-Feil anomaly, even a late diagnosis made on the basis of rare deformities, is very important as the affected patients are at a high risk of alcoholism. The combination of Klippel-Feil anomaly with numerous other syndromes and deformities suggests a basic general disorder of skeletal maturation. Diverse cases of Klippel-Feil anomaly possibly originate., in reality, in an unrecognzied fetal alcohol syndrome.

The vertebral arteries have been hypothesized to be a source of recurrent emboli that obstruct the posterior circulation of the brain in children, but mechanisms for formation of such emboli have not been documented. An infant with Klippel-Feil anomaly experienced multiple embolic events in the posterior circulation, documented by serial computed tomography and cerebral angiography. Angiography identified a source for the emboli in the left vertebral artery. The value of lateral cervical spine radiographs in screening for bony abnormalities which may predispose to arterial anomalies is demonstrated.