Pediatric flat face joint dislocation syndrome
Introduction
Brief introduction of pediatric flat face joint dislocation foot abnormal syndrome Flat face joint dislocation foot abnormality syndrome, also known as Larsen syndrome, is a group of comprehensive malformations characterized by special facial features, large joint dislocation and other skeletal abnormalities. basic knowledge The proportion of illness: 0.002% Susceptible people: children Mode of infection: non-infectious Complications: congenital heart disease spina bifida
Cause
The cause of abnormal facial syndrome in children with flat face joint dislocation
(1) Causes of the disease
The cause of this disease is unknown.
(two) pathogenesis
May be a connective tissue lesion, the genetic type has been reported to be autosomal recessive or dominant inheritance, but also can be a single.
Prevention
Prevention of abnormal facial syndrome in children with flat face joint dislocation
The cause is unknown, and reference is made to preventive measures for hereditary diseases.
Complication
Pediatric flat face joint dislocation foot abnormal syndrome complications Complications congenital heart disease spina bifida
With multiple deformities, in addition to face, skeletal deformities, there are congenital heart disease, spina bifida and so on.
Symptom
Pediatric flat face joint dislocation foot abnormal syndrome symptoms Common symptoms Nasal flat collapse Eye distance wide flat face Scoliosis forehead and humeral protrusion Abnormal hip dislocation Cervical segmental abnormal elbow dislocation Horseshoe
Special appearance
The forehead is prominent, the cheeks are flat, the bridge of the nose is flat, and the eye distance is wide.
2. Dislocation of the joint
Congenital multiple large joint dislocation, mainly elbow joint, hip joint, knee joint.
3. Abnormal hands and feet
The shape of the finger is sausage-shaped, short rod-shaped; the foot is in horseshoe varus and valgus deformity.
4. Other performance
There is no influence on intelligence, and there may be spina bifida, scoliosis, kyphosis, ankle abnormality, abnormal cervical segmentation, and congenital heart disease.
Masson's 1978 analysis of the incidence of this deformity was: 1 knee dislocation 100%; 2 foot abnormalities 95%; 3 facial abnormalities 93%; 4 hip dislocation 60%; 5 hands, finger deformity 50%; 6 elbow dislocation 47 %; 7 abnormal 37%.
Examine
Examination of abnormal facial syndrome in children with flat face joint dislocation
Concurrent infections may have corresponding changes in bloody infections.
X-ray, electrocardiogram, echocardiography, etc. should be done.
X-ray diagnosis points:
1. Dislocation of the large joint: symmetry changes, in order of appearance: knee joint - tibia in front of the femur, hip dislocation and simple congenital dislocation of the hip, elbow joint dislocation to the ulnar side, often accompanied by the development of the lower end of the humerus Not complete.
2. Foot abnormalities: 95% of cases with foot deformity (hooffoot varus, valgus deformity, etc.), the calcaneus, hand, wrist, knee, elbow, etc. can have additional ossification center appears to be the characteristics of this syndrome One.
3. Hand abnormality: the shape of the finger is sausage-shaped, the metacarpal bones are short and uneven, and the distal phalanx of the thumb is a wide deformity of the scraping knife.
4. Spinal abnormalities: common cervical spine abnormalities, cervical and thoracic vertebrae in the lateral anterior kyphosis, spina bifida, lateral process and kyphosis.
5. Skull abnormality: the forehead is flat, the distance between the two eyes is too wide, the bridge of the nose is concave, the small sputum, and the occipital part has intersegmental bone.
6. Congenital heart disease: aortic root dilatation, aortic stenosis and insufficiency.
Diagnosis
Diagnosis and differential diagnosis of abnormal facial syndrome in children with flat face joint dislocation
According to clinical features, combined with X-ray abnormalities for diagnosis, blood biochemistry, electromyography, muscle biopsy are mostly normal.
The disease should be distinguished from Rubinstein-Taybi syndrome, joint relaxation (Ehlers-Danlos) syndrome, and flat-faced (Otopalatodigital) syndrome. These syndromes have only one or two malformations of the syndrome. There were no major multiple large joint dislocations.
