, Chondrodystrophy

, Chondrodystrophy is the inherent systemic disease caused by a malformation of the cartilage and educational system of the embryo and manifested mainly lesions of bones and cartilage of origin (limb, the base of the skull). Vice begins to form at an early 3-4 weeks of embryonic development are violated normal ossification and the growth of bones in length; part fetuses die in the prenatal period. Delivered normally born children with chondrodystrophy quite viable. If a diagnosis of chondrodystrophy installed before delivery, shown cesarean section, as due to a disproportionately large size of the head of the fruit of possible severe birth trauma mother and child.
The etiology is unclear.
The clinical picture. Patients chondrodystrophy have a very characteristic appearance: disproportionately short upper and lower limbs (dominated by shortening shoulder and hips) during normal length of the body; the head is large size with exposed frontal and parietal mounds, as if hovering over the little person with a saddle and a wide nose. Changes in the bones of the skeleton, usually symmetrical. As the result of a distorted bone growth throughout the epiphyseal plate, the epiphysis strain, leading to varus and valgus (On-shaped and u-shaped) the curvature of the lower extremities. Deformation of the lower extremities, especially amplified when the child begins to walk. Galiforina curved and twisted inside of the thigh. The spine is deprived of normal curves (flat back), but often reinforced physiological lordosis in the lumbar region. Brush square shape due to the fact that the short thick II-V fingers all the same length. The muscular system is developed normally, and patients often have great physical strength.
The diagnosis is based on the characteristic changes in appearance and skeleton. Chest x-ray revealed a systemic change in the bones of the limbs with their dramatic shortening and thickening. In young children, chondrodystrophy differentiate with rickets. Emerging shortening of the limbs, radiological data, the futility of treatment with vitamin D help to establish the correct diagnosis.
Treatment. Radical treatment of chondrodystrophy not. Orthopedic treatment aimed at prevention and elimination of limb deformities (wearing orthopedic devices, osteotomy to correct curvature).
The forecast is favorable for life.

, Chondrodystrophy (from the Greek. chondros - cartilage + dystrophy; synonym: achondroplasia, nanismus chondrodystrophicus, mikromelia, chondrodystrophia foetalis, illness, Parra-Marie) is a systemic disease caused by malformation chondroblasts system of the embryo, affecting mainly limb bones and skull base. The term French authors - "achondroplasia" loosely defines the essence of chondrodystrophy, and the term "micromelia" includes symptoms common to many diseases.
Etiology of chondrodystrophy remains outstanding; apparently, it is diverse.
Essentially, chondrodystrophy is the anomaly encontrarnos development of the skeleton. Affects only the bones of the secondary ossification. Flat bones of the cranial vault and collarbone (obzvezhdane on connective tissue type), as a rule, are not affected. The result is a vicious disorderly arrangement of germ cells of cartilage already in the period of blastogenesis (3-4 weeks of embryonic development) violated the correctness of ossification, and bone growth in length (epiphyseal) is delayed. Periosteal and endofline ossification as opposed to the imperfect osteogenesis (see imperfect Osteogenesis) if chondrodystrophy not broken.
, Chondrodystrophy is already apparent in the prenatal period; part fetuses die in utero, part - as a result of premature birth unviable, and the part due to the fairly large size of the head is injured in childbirth or require a caesarean section. Normally born children with chondrodystrophy, despite emerging signs of disease, viable, often have great strength and agility, and live to a ripe old age.
Pathological anatomy of chondrodystrophy characterized by impaired bone development of the cartilage of origin. Most drastically affects long tubular bones and the bones of the skull base, while the bone tissue Genesis (jaw, clavicle, the top of the skull) develop normally. Tubular bones shortened in normal thickness. Shortening vary from bones and joints, hollows and on the surface they are sometimes immature, why the possible deformation of the joints, especially of the shoulder, elbow and knee. Are shortened also ribs, disrupted development of bones of a basin occurs his throat and deformation. Early fusion of the nuclei, ossification of the vertebral bodies and handles, of the sphenoid and occipital bones leads to a shortening of the skull base, narrowing great occipital foramen and spinal canal, accompanied atrophic phenomena in the spinal cord. In the spine are marked kyphosis, kyphoscoliosis. Characteristic brachydactyly expressed in the contraction and the same length II, III, IV fingers. Soft tissue compared with the bones developed excessively, causing the limbs form a thick folds. The internal organs and, in particular, the endocrine system developed normally.
Microscopic examination of the bones observed decrease the thickness of the sprout area epiphyseal cartilage in violation of his architectonics and structure formed bone beams under normal periosteal osteogenesis. Typical is the formation of connective tissue heavy on the border of the epiphysis and diaphysis, implemented on the side of periosteum or pericentre in the area epiphyseal cartilage plates and separating at some during the epiphysis from diaphysis.
In the described deformation of the skeleton patient chondrodystrophy has a characteristic appearance: dwarf growth, short legs for relatively long torso, large head with a prominent forehead and pressed the bridge of his nose, a short neck, deformed large joints, powerful muscles. Erased form chondrodystrophy manifested mainly in the form of micromelia with relatively well developed in the trunk.
Imperfect chondrogenic is an independent disease, which is based on the incorrect development of the cartilage substance with secondary changes of bone skeleton. In the literature this disease refers to a special (hyperplastic) form of chondrodystrophy.


Fig. 1. Upper limb infant boy suffering from chondrodystrophy. All of the tubular bones, especially the shoulder, short and wide.

The clinical picture. , Chondrodystrophy characterized dwarf and yet disproportionate growth, characterized by a shortening of the limbs, mainly proximal segments under normal size of the spine.
Leading clinical symptom is shortened limbs. The upper limb in newborn barely reach the navel, and in adults groin. Shortening of the limbs is rhizomelic nature is dominated by shortening the proximal segments (shoulder and thigh) compared with distal (forearm, thigh). Perverted and slow epiphyseal growth with an unbroken periosteal growth makes all the tubular bones thick (Fig. 1), winding, bumpy due to the protrusion of epifizov (places of attachment of muscles). The result is abnormal and different but the entire area of the epiphyseal growth plates of the epiphyses strain, leading to varus and valgus deformation (Fig. 2).



, chondrodystrophy
Fig. 2. , Chondrodystrophy (girl 1 year 6 months); shortening of the limbs and severe deformity of the legs.

Varus deformation of the femoral neck again leads to the tilt of the pelvis and sacrum and pronounced lordosis. Well-developed in patients with chondrodystrophy muscles of the limbs in high elasticity metaepitome departments bones leads to the distortion axis segments. This contributes to the high weight not stunted body. Galiforina bent and slightly twisted inside of the femur in distal third.
The trunk when chondrodystrophy not suffer, it's normal size, but the spine deprived of normal curves (flat back), but often reinforced physiological lordosis in the lumbar region as a consequence of increased tilt of the pelvis when varus deformation of the femoral neck. It is noted decrease in the size of the pelvis when it is proportional development is also due to cartilage degeneration of incontrato.
Typical chondrodystrophy changes in the skull, characterized by microcephalia and brachycephala with exposed parietal and frontal mounds. The vault of the skull as though hanging over small and several advanced person. Nose - saddle-shaped, wide with a depressed nasal bridge, making the person sick similar to each other.
Functional prognosis of chondrodystrophy in some cases may be difficult because of developing arthrosis of large joints of the lower limbs, as well as due to the development of the above deformations.
Treatment of chondrodystrophy orthopedic. Pathogenetic therapy does not exist, so as to prevent premature ossification and the perversion of the epiphyseal growth is not possible. A number of authors trying to cause increased growth of limbs when chondrodystrophy by hormone therapy.
In order to prevent the backlog of limbs in the growth of used injection of anabolic drugs that stimulate growth,-17-ethyl-19-nortestosterone, nandrolone (Durabolin) and other drugs, but this treatment requires special care, since interest hormonal medicines can cause side endocrine disorders.
Prevention of deformations of lower extremities feasible in children aged 1 year and beginning to stand on his own legs, and is the prevention of early rising and prolonged walking as children suffering from rickets (see). When emerging strains in order to prevent their progression appoint lockless orthopedic devices. In progressive varus deformity apparatus do with rigid mounting with a belt and with a focus on the sciatic hillock. When fully developed deformities of lower limbs carry out corrective osteotomy; when varus deformation of the femoral neck - powertelnet cross osteotomy with a metal rod or gomotransplantation or fenestrated osteotomy on Kochevo, preferably the first, because it does not shorten the length of the thigh.