The Klippel-Feil syndrome: a case report

Short neck and fusion of cervical vertebrae are observed in several genetic conditions and well-defined syndromes. An 8-year-old boy with a short neck, low-set posterior hairline, deafness and limited neck motion was suspected of having such a condition. Clinical and radiographic examination led to the diagnosis of Klippel-Feil syndrome.     

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.     

Modified Z-plasty repair of webbed neck deformity seen in Turner and Klippel-Feil syndrome.

OBJECTIVE: Webbed neck deformity exists in many syndromes including Turner's or Klippel-Feil syndrome. Multiple problems are encountered with existing techniques to correct a webbed neck deformity. In Turner's syndrome, a subcutaneous band of thickened fascia and a low neck hairline present a challenge to the surgeon when designing a repair. The authors propose the following new technique that addresses both issues. MATERIAL AND METHODS: Five patients with webbed neck underwent this new procedure. A Z-plasty is performed with the midline arm down the length of the web. The subcutaneous fibrous band is excised, the shortened trapezius is released, and the hair-bearing flap is excised. The anterior flap is rotated and advanced to join its mate flap from the contralateral neck at the posterior midline. A resultant dog-ear near the acromion is corrected with an additional Z-plasty. RESULTS: In all five patients, the functional and aesthetic results were very satisfactory to both patient and surgeon. An 11-year follow-up is presented with excellent correction of the webbing. Both limited range of motion and the cosmetic deformity are addressed by this technique. CONCLUSION: The results obtained by using the simplified modified Z-plasty technique for repair of webbed neck deformity are very satisfactory. We propose the use of this technique for correction of webbed neck deformities whenever the posterior surface of the neck web contains a significant amount of hair.     

Craniofacial characteristics of Klippel-Feil syndrome in an eight year old female

A female eight year, one month old patient with Klippel-Feil syndrome has been introduced. General appearance of the patient was characterized by short neck with limited head movements, craniofacial asymmetry, low posterior hairline and a short stature. Cephalometric analysis revealed a Class I dentoskeletal pattern with an excessive mandibular plane angle and fused cervical vertebrae. Panoramic radiogram showed congenitally missing lower second premolars and right central incisor.     

Abnormal oral vascular network geometric complexity in Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) leads to impaired extracellular matrix (ECM) structure. Since ECM plays a major role in blood vessel geometry, we tested the hypothesis of an abnormal geometrical complexity of the visible microvascular network in EDS. Twelve patients with EDS-II or EDS-III and a control population (n=12) were examined. The geometry characteristics for the networks on the lower vestibular oral mucosa were analyzed using high-resolution photographic images. Fractal dimension, D, at 2 scales (D 1-46 and D 1-15), blood vessel tortuosity (minimum-path fractal dimension , Dmin ), and relative Lempel-Ziv complexity (L-Z) values were determined. EDS vascular networks exhibited significantly higher D 1-46 (P <.00001) and D 1-15 (P <.00001), as well as L-Z complexity (P <.00001), together with lower Dmin values (P=.0001) than controls. These findings indicate the presence of a previously unrecognized microvascular network abnormality on the oral mucosa in EDS patients, and provide an additional phenotypical marker for the condition.     

Abnormal mandibular growth after craniovertebral surgery in Morquio syndrome type A

Morquio syndrome or MPS4A is an autosomal recessive inherited metabolic disease, due to a deficiency of N-acetil-galactosamine-6-sulfatase (OMIM 253000). Hypoplastic odontoid processes causing atlantoaxial subluxation and cervical myelopathy are usual clinical findings. Surgical intervention of craniocervical fusion is often performed to prevent this complication. Clinical and cephalometric findings in a patient affected by Morquio syndrome after craniovertebral surgery are described. Facial growth pattern in the lateral plane changed dramatically. The mandibular gonial angle (ArGoMe), the body of the mandible (GoGn), and the total length of the mandible (CoGn) increased abnormally, whereas the mandibular ramus (CoGo) exhibited normal growth. Knowledge of the possibility of abnormal mandibular growth may contribute in long-term orthodontic management of such subjects.     

Multiple sclerotic masses of jaws.

Multiple sclerotic masses of jaws commonly occur in middle aged black females. There exists a plethora of terminologies to describe these entities. The phenomenon has been speculated to be due to low grade infection or the result of dysplastic changes of osseous tissue. Familial history has been noticed in some cases. Radiographically the masses appear multiple, dense and globular radiopacities with a radiolucent rim. This criterion may be used to distinguish the masses from chronic diffuse sclerosing osteomyelitis. Secondary infection leading to sequestration is a common complication.     

Ultrastructure of sclerotic cemental masses.

Electron microscopic findings in a focus of early calcification in a case of sclerotic cemental masses of the jaws are described. The lesional cells generally resemble typical collagen-producing cells, except that many contain unusually large numbers of intracytoplasmic actinlike filaments. This and other fine structural features are reminiscent of fibroblasts involved in active tissue repair. These observations suggest that the lesion is basically reactive in its biologic nature. The most characteristic portion of the mineralized component, the rounded calcified globules, ultrastructurally resembles primary cementum.