Klippelya-Feyl's syndrome

Description:

The m of Klippel and A. Feil described an inborn malformation with a characteristic triad of symptoms: short neck, low-sited border of hair on a neck, restriction of mobility of the head.

Reasons of a syndrome of Klippelya-Feyl:

Anomaly develops as a result of disturbance of vascularization, segmentation, an aplasia, a hypoplasia, a delay of merge of a pair laying of vertebrae in the embryonal and fetalis periods. The created synostoses cervical, and sometimes and upper chest vertebrae, reduction of number of cervical vertebrae to 4-5, failure of union of arches and bodies of vertebrae define a clinical picture and weight of deformation at this syndrome.

Symptoms of a syndrome of Klippelya-Feyl:

The classical triad of symptoms at Klippelya-Feyl's syndrome includes a short neck, low-sited border of hair on a neck and restriction of mobility of the head. The most expressed symptom is shortening of a neck, but in respect of diagnosis the most informative symptom is restriction of movements of the head. More the rotational movements suffer.

Klippelya-Feyl's syndrome is quite often combined with other anomalies of development. So, at 25-30% of patients scoliosis, alate folds of a neck, a rigid bone form of a wryneck, high standing of a shovel - a disease Shprengel are defined. Anomalies of development of upper and lower extremities come to light: syndactylia, hypoplasia of the I finger of a brush, additional fingers, hypoplasia of a pectoral muscle, hypoplasia of an upper extremity, lack of an ulna, deformation of feet.

The hidden anomalies of development of internals in patients with this disease pose a big threat for the patient's life, than a syndrome. 35% of patients have heavy anomalies of development of kidneys in the form of an aplasia, hypoplasias, hypoplasias of a pelvis, a hydronephrosis, an ectopia of ureters. Quite often anomalies of development of cardiovascular system meet (defects of an interventricular partition, not fusion of an arterial (botallov) channel, aorta dextroposition, lack of a lung, etc.).

Disturbance of development of a rachis is followed by disturbances of development of a nervous system. At early age of change from TsNS can be shown in the form of synkineses - involuntary consensual movements of hands, brushes. At more advanced age the neurologic symptomatology in some cases is supplemented with the secondary changes of a spinal cord and roots which developed because of degenerative changes of a backbone, narrowing of the vertebral channel, a protrusion of a base of skull.

X-ray pattern

On the basis of a radiological method of a research on Feyl distinguish two types of a disease.

At the first type of a disease of G and the SI are merged in a uniform bone conglomerate in which also other cervical vertebrae are involved. Usually cervical department of a backbone is presented by four - five vertebrae. Other anomalies of development of vertebrae meet, not fusion of arches of vertebrae (spina bifida) is preferential.

The second type of a disease across Feyl is characterized by existence of a synostosis of an atlantozatylochny joint, bone unions of underlying vertebrae, cervical edges. Anomaly of cervical department of a backbone is combined with neurologic frustration.

For detection of instability of vertebrae, narrowings of the vertebral channel, a hypoplasia and an aplasia of disks, hyper mobility of joints of the roentgenogram of cervical department of a backbone in the sagittal plane carry out in the provision of the maximum bending and extension of the head.

Treatment of a syndrome of Klippelya-Feyl:

The conservative treatment directed to increase in volume of movements of the head - special exercises, extension, use of a collar - essential changes does not give.

At Klippelya-Feyl's syndrome cosmetic operation at which removal of the located above, than normal, four first edges - "tservikalization" on Bonol is provided is offered. Make a juxtaspinal section between acanthas and an inner edge of a shovel. From an inner edge of a shovel cut trapezoid and rhomboid muscles. They are taken away by knutr, and a knaruzha shovel. Throughout 10-18 cm resect the I-IV edges and delete a periosteum. The immobilization is carried out a plaster bed, and then a polyethylene headholder.

Operation is carried out on one party, and after recovery treatment - on another.

Forecast.

For function adverse, restriction of movements of the head remains. Secondary degenerative changes of a backbone in rare instances lead to heavy neurologic frustration.