CONGENITAL DEFORMITIES

CONGENITAL DEFORMITIES

Definition

Are abnormalities of development present at birth. There are many different types of anomalies and numerous variations; they may involve any bone or joint structure. The impacts of congenital deformities can be primary, such as delays in the development of motor and language skills, or secondary, such as social ostracism and low self-esteem.

Epidemiology

·                  1 to 2 per 1000 births.

·                  Five times high in girls as in boys

·                  Relatively frequent following breech deliveries and has higher incidence in infants with ligamentous laxity or with other congenital anomalies such as metatarsus varus or torticollis.

·                  Unilateral is seen more frequently than bilateral.

Etiology

·     The exact cause is unknown. It is likely that both genetic and environmental factors play a part. Parents of children with dislocated hips draw a high incidence of acetabular dyplasia and families with generalized ligamentous laxity have a high incidence of congenital dislocation.  Prenatal environmental factors are important. The high incidence in breech presentations, particularly when the intrauterine hip is extended, drawing the iliopsoas tendon against the antero-inferior hip capsule, suggest that stresses on the hip in the uterus may be a factor. A postnatal factor of importance is suggested by people who wrap their infants in swaddling clothes, which keep the hips adducted and extended.

            They are believed to result from:

1.    Genetic influences

a.    Chromosome Anomalies- variation in chromosome number or structure, arising from abnormalities of cell division, may affect large group of genes. The resulting congenital defects are likely to be multiple, severe, and in most instances incompatible with life.

b.    Single Gene Disorders- arise from genetic mutation in recent or distance ancestors and are transmitted to offspring according to the familiar dominant, recessive, and sex-linked modes of inheritance.

2.    Intrauterine Environmental Influences- harmful influences in the environment of the developing fetus possibly account for a great majority of congenital defects. Factors shown to have an adverse effect on the human fetus include heavy irradiation, thalidomide, the folic acid antagonist aminopterin, rubella, toxoplasmosis, and certain androgenic hormones. All harmful factors produce damage while early differentiation of tissues and tissues and structures is taking place, during the first trimester of pregnancy.

3.    Combined Genetic and Environmental Influences- it is probable that both abnormal genes, singly or in groups, and abnormal environmental influences play a part in the complex etiology of many congenital deformities.

Treatment

             Largely because of their uncertain etiology, congenital deformities are generally not preventable, but it is possible that improved care of the expectant mother’s health and protection from environmental poisons may lessen their incidence. Needed treatment should in most instances be started quite early in infancy, before abnormal changes in the affected tissues become more advanced and fixed by increasing age and trauma and before they lead to deforming secondary changes in adjacent structures. The effectiveness of treatment in reducing disability and disfigurement varies widely with the type of anomaly and with the promptness with which the treatment is instituted.

Classifications

1.   CONGENITAL DISLOCATION OF THE HIP

Definition

·         Is commonly the result of femoral head or acetabular dysplasia.

·         This condition refers to malformation of the hip joint during the development of the unborn child. In this condition, the head of the thighbone or femur, does not sit properly in the socket of the pelvis.

Congenital Hip Dysplasia- dislocatable hip of the new-born. (Pictures below)

Acetabular Dysplasia- changes in the hip socket or acetabulum. (Picture below)

Congenital Sublaxation- hip that is neither completely dislocated nor concentrically seated in the acetabulum

Pathology

            The pathologic changes vary with age. The changes are much less clearly defined in the dislocatable hip of the newborn than they are in later, established dislocation. At birth the hip capsule is lax; usually the ligamentous teres is elongated, the acetabulum is normal in shape and in depth and the femoral head is of normal configuration. Anteversion is slightly increased. Adducted, extended and externally rotated positioning of the hip may tend to keep the capsule stretched that leads to obliquity of the cartilaginous acetabular roof. If these remain untreated, the acetabulum becomes shallow and its roof sloping.

The femoral head is displaced

            The femoral head is displaced upward and backward which later shows underdevelopment and flattening. Valgus and anteversion of femoral neck increases. The capsule on weight bearing as a suspensory ligament becomes elongated, thick and fibrous. Muscles, especially  the adductor group, become shortened and contracted. With continued weight bearing, postural deviation of the lumbar spine toward the affected side takes place.

Clinical Manifestations

·         Neonatal Period- extends from birth to 1 month of age. The unstable hip is carefully examined within the first 24 hours because the incidence diminishes rapidly.

§  Most important physical finding is the ability to dislocate the hip using the Barlow test and return it again using the Ortolani test.

§  Limitation of abduction.

§  Asymmetry of the thigh folds but is an unreliable sign at this age due to the proximal femur and acetabula are cartilaginous.

·         Infancy- extends from neonatal period to the age of 2 years, the physical findings associated with dislocation of the hp becomes more evident.

§  Painless with obvious external deformity.

§  Limitation of abduction and asymmetry of thigh folds become more prominent.

§  Shortening may be apparent on the dislocated side which is called the Galleazi sign.

§  Ortolani and Barlow sign still present for a few months.

§  Greater trochanter is prominent and appears above Nelaton’s line (line from ASIS to ischial tuberosity)

§  The greater trochanter can be move proximally and distally in the buttock if the extended thigh is first pushed proximally and pulled distally. This is called the telescoping or piston mobility.

§  Lurching towards the affected side caused by shortened impaired gluteus medius muscle and bases of the positive Trendelenburg test.

·         Age 2 to 6 years

§  Ortolani and Barlow signs are usually absent.

§  Limping is quite obvious.

§  (+) Trendelenburg sign.

§  Shortening is obvious and is accompanied by asymmetric thigh creases.

§  Contractures of the adductor muscles.

·         Over 5 years of age

§  Similar to those of earlier age group, but contractures are more severe, and limp and disability increases as the child grows.

Diagnosis

·         Infancy

§  Is made on clinical findings and confirmed by roentgenographic changes. In children the waddling gait of unreduced congenital dislocation of the hip may be simulated by that of congenital coxa vara, gluteus medius weakness from neurologic diseases such as progressive muscular dystrophy or poliomyelitis, and pathologic dislocation following paralysis or sepsis.

·         Special test

§  Ortolani’s Sign- infant is supine the examiner flexes the hips and grasps the legs so that the examiner’s thumbs are against the insides of the knees and thighs and the fingers are placed along the outsides of the thighs to the buttocks. With gentle traction, the thighs are abducted and pressure is applied against the greater trochanters. Resistance to abduction and lateral rotation begins to be felt approximately 30 degrees to 40 degrees. The examiner may feel a click, clink or jerk, which indicates a positive test and that the hip is reduced. (picture below)

§  Barlow’s Test- infant lies supine with the legs facing the examiner. The hips are flexed 90 degrees, and the knees are fully flexed. Each hip is evaluated individually. Hand placement is same as in Ortolani’s sign. Hip is taken into abduction while the examiner’s middle finger applies forward pressure behind the greater trochanter. Positive for the test if the femoral head slips forward into the acetabulum with click, clunk or jerk. The examiner then uses thumb to apply pressure backward and outward on the inner thigh.  If femoral head slips out over the posterior lip of the acetabulum and then reduces again when pressure is removed, the hip is classified as unstable. The hip is not dislocated but is dislocatable. Used for infants up to 6 months of age. (picture below)

§  Galeazzi Sign (Allis or Galeazzi’s Test) - good only for assessing unilateral CDH and may be used in children from 3 to 18 months of age. The child lies supine with the knees flexed and the hips flexed to 90 degrees. Positive test is indicated if one knee is higher than the other. (picture below)

                

§  Telescoping Sign (Piston or Dupuytren’s Test) - the child lies supine. The examiner flexes the hip and knee to 90 degrees. The femur pushed down onto the examining table. The femur and leg are then lifted up and away the table. With the normal hip. Little movement occurs with this action. With dislocated hip, however, there is a lot of relative movement. The excessive movement is called telescoping, or Pistoning.

§  Abduction Test (Harts’ Sign) - if CHD is not diagnosed early, parents often note that when they change the child’s diapers, one leg does not abduct as far as the other one. This is the basis of the test. The child lies supine with the hip and knee flexes to 90 degrees. The examiner then passively abducts both legs, noting some asymmetry or limitation of movement.

Treatment

·         Neonatal Period

§  Certainly most dislocatable hip for the first few days of life will become stable without treatment but mild splinting that prevent adduction and extension of the hip is quite satisfactory like Pavlik harness, Von Rosen splint, or Frejka pillow.

·         Infancy- mostly in this age group can be managed by nonsurgical means.

§  In the first 6 months of infancy, hip will frequently reduce spontaneously if pointed in the direction of the acetabulum. This can be accomplished thru the use of the Frejka pillow, Pavlik harness, or other nonrigid splint.

§  For less stable hips, more rigid splint or plaster cast may be required.  Great care must be exercised not to place the hip in strained or forced position; especially is abduction of more 60 degrees to be avoided, because of the danger of osteonecrosis.

§  Contractures of muscles, especially adductor muscles about the dislocated hip should be treated in traction for several weeks, until the hip can be gently and gradually pulled down to the level of acetabulum

§  Surgical section of the muscles that are contracted is necessary before closed reduction after which a plaster cast for 6-8 weeks extending from the chest to the toes on the both sides may be applied with the hips flexed 90 degrees but less than 60 degrees of abduction. Then splint is applied.

§  Open reduction  is necessary if there is failed in reduction , or redislocation after successful reduction;

-          Less than 18 months of age

o   Medial adductor approach, requires minimum dissection of the medial adductor muscles and permits tenotomy of the iliopsoas tendon

-          Between 18 months and 2years of age

o   Anterior iliofemoral approach, requires more extensive dissection permits excision of an inverted limbus or thickened acetabular tissue and reefing of redundant superior capsule.

§  If acetabular deficiency is significant and hip is unstable after open reduction, redirection of the acetabular dome to provide better coverage of the femoral head may be necessary. This can be done by means of:

-          Innominate Osteotomy of Salter – to decrease obliquity of the acetabulum and provide better coverage. A wedge of bone removed from the anterior part of iliac crest is held in the opened osteotomy site by stout Kirschner wire. The wire is removed 6 weeks later.

-          Pemberton’s pericapsular osteotomy of ilium- same function as above. A block of bone from the iliac crest is wedged into the open end of curved osteotomy line.\

·         Age 2 to 6 years

§  Same as in infancy.

§  If valgus of the femoral neck is a factor in causing hip instability, varus osteotomy is needed. A wedge of bone, with its apex pointed laterally is removed from the subtrochanteric region of the femur. At the same time, the shaft may be externally rotated to correct excessive anteversion than removal of a segment bone to shorten the femur. To allow reduction of long-standing dislocation. (picture below)

·         Over 6 years of age

§  Salter’s innominate osteotomy

§  Chiari pelvic osteotomy- for older children to provide better coverage of femoral head. A broken line is marked and this shows level of planned osteotomy then the distal fragment of the pelvis and femoral head covered by the capsule is displaced medially. (picture below)

2.   CONGENITAL DISLOCATION OF THE KNEE

Types:

A.   Congenital Genu Recurvatum, or hyperextension of the knee - more common than true dislocation (picture below)

B.   Partial or Complete Anterior Displacement of the Tibial Condyles on those of the Femur- more severe type

Epidemiology

·         Female > male

·        1 per 1000 live births

Etiology

·         Abnormal position of the knee in the utero.

Pathology

·         The Exact mechanism of the pathology is unknown, but prenatal and postnatal factors may enhance its occurance

Clinical Manifestations

·         Contracture of the quadriceps muscle and the anterior part of the capsule such that the leg can be brought to a straight line but will not flex beyond that point.

·         Patella is absent or small.

·         Wrinkling of the skin over the patella

·         There may be an associated varus and valgus deformity of the knee.

·         Lateral instability is often present.

·         Can be associated with teratologic CDH and with arthrogryposis.

Treatment

·         Apply serial cast in increasing flexion.

·         Manipulate the joint to stretch the tight anterior structures.

·         Posterior splint, used keep the knee in flexed position after reduction.

·         Those associated with arthrogryposis, a period of traction followed by surgical release of anterior structures and lengthening of the fibrotic quadriceps may be necessary.

3.   CONGENITAL TALIPES

·         Talipes, derived from Latin talus, meaning ankle, and pes, meaning foot.

·         Deformities of the foot and ankle are conventionally described according to the position of the foot. The 4 cardinal positions are (A) varus or inversion (B) valgus or eversion (C) equines or plantar flexion (De) calcaneus or dorsiflexion. (picture below)

                                                                                                                  

A.   Talipes Equinovarus (congenital clubfoot)- The heel is drawn up, the entire foot below the talus is inverted, and the anterior half of the foot is adducted.

(picture below)

Epidemiology

·         1 per 1000 births

·         However, when a child has this condition, the chance of a sibling’s having it is increased to 1 in 35 births.

·         Twice common in boys than girls

Etiology

·         The cause is unknown. The problem is complex because talipes equinovarus noted at birth may be associated with a number of diverse disorders such as arthgryposis, certain forms of dwarfism and other congenital anomalies, or may be an isolated lesion usually referred to as idiopathic club foot. For idiopathic clubfoot a hereditary factor can be found in 20 % of the cases. Most widely accepted hypothesis for clubfoot are the following:

§  Arrested or anomalous development of this particular part of the embryo in 1^st trimester of pregnancy.

§  At about 3^rd month of intrauterine life, the foot occupies normally an equinovarus position

§  Abnormality in the relative maturity and length of the muscles, as well as variations in their tendon insertions.

Pathology

            Achilles tendon is shortened and the anterior and posterior tibial tendons are contracted in proportion to the degree of varus deformity. Ligaments and joint capsules on the medial side are contracted. The most striking abnormality is at the talocalcaneonavicular joint. The navicular bone is displaced medially around the head of the talus to such degree that it may contact the medial malleolus. The forepart of the foot follows the medially displaced navicular, leaving the uncovered head of the talus as a palpable lump. The subtalar surfaces are tilted into varus and equines and medially rotated. The calcaneous is slightly shortened and widened. There may be an associated external torsion of the tibia or external rotation of the talus in the ankle mortise.

Clinical Manifestations

·         The heel is drawn up, the entire foot below the talus is inverted, and the anterior half is adducted.

·         The medial border of the foot is concave, the lateral border is convex, and there is a transverse crease across the sole at the level of the mediotarsal joint.

·         Some degree of stiffness

·         Inability to bear weight normally.

·         Muscles of the leg quickly become fatigued and soon show marked atrophy.

·         Pain is experienced by patients where arthritic changes developed.

Treatment

·         Manipulation of the foot into the position of dorsiflexion, eversion, and abduction of the forefoot.

·         Lengthening of the Achilles tendon.

·         Surgical releases of the tight structures usually between 6 months and 2 years.

·         Light plaster cast applied over the skin protected by a tincture of benzoin and bony prominences protected by thin felt pads. Used for 3-4 months.

·         Kite method, consists of series of gentle manipulation of the deformed foot designed to gain as much correction as possible without the use of excessive force.

·         Use of Denis Browne splint, it has a clubfoot shoes attached to the crossbar of the splint which is bent such that when the child kicks, the tight structures will be stretched into the over-corrected position. (picture below)

·         Posteromedial release operation:

§  Release of posterior capsule of the ankle

§  Lengthening of Achilles and posterior tendon

§  Release of medial structures about the talonavicular and subtalar joints

·         Wedge Osteotomy- operation on the tarsal bones in which as much bone as necessary to correct the deformity is removed from the region of the transverse tarsal joint, at the same time the subtalar joint is fused. Although such operations stiffen one or more of the abnormal tarsal joints, they usually improve the function, endurance, and appearance of the foot.

  

B.   Talipes calcaneovalgus - characterized by eversion of the foot, increased dorsiflexion of the ankle, and apparent lengthening of the Achilles tendon.

Epidemiology

·         Appears greater in larger babies

·         Breech delivery

·         Babies born in primigravida

 Treatment

·         Mild degrees require no treatment

·         Moderate ones may be improved by gentle stretching excercises.

·         Severely deformed at birth should be held in light corrective casts for at least several weeks. A Denis Browne splint holding the feet in an equinovarus position for several months is sometimes used.

C.   Metatarsus Varus (metatarsus adductus) – caused by combination of genetic and environmental factors. It consists of adduction of the forefoot at the tarso metatarsal jointsmay involve one or both feet; when unilateral it is sometimes associated with clubfoot or calcaneovalgus of the opposite extremity. One of the many causes of pigeon toes.

Epidemiology

·         1-2 per 1000 live births

·         Female > male

Treatment

·         In mild case may involve only stretching excercises five to six times a day, consisting of stretching the forefoot gently into abduction while holding the hind foot fully inverted.

·         More than minimal, cast treatment is indicated.

·         In severe cases, greatly improved by surgical treatment.

D.   Congenital Vertical Talus (congenital convex pes valgus)

– an uncommon and severe form of flatfoot. Characterized by excessive plantar flexion of the talus, to such a degree that sometimes its longitudinal axis parallels that of the tibia. The calcaneus is also equines, but since the forefoot is dorsiflexed, the mistaken diagnosis of calcaneovalgus may be made. The navicular bone is dislocated dorsally onto the neck of the talus, and the calcaneocuboid joint may also suffer dorsal sublaxation.

Etiology

·         Deformity can be detected at birth which may be due to rigidity fixed contracted ligaments and tight tendons.

Treatment

·         Series of cast is required

·         Early surgical treatment is usually necessary to reduce the talonavicular joint, and to correct the hind foot equines.

·         Subtalar arthrodesis( fusion of bone in the subtalar joints).

4.    CONGENITAL CLUBHAND

A.    Congenital absence of the radius - Uncommon congenital malformation usually associated with complete or partial. absence of radius (partial radial hemimelia). Characterized by marked radial deviation of the hand and shortening of the forearm. Hand and arm are small, and the shoulder girdle is underdeveloped. Radial nerve and artery are frequently absent. The median nerve usually takes place the sensory function of the radial nerve. (picture below)

Epidemiology

·         Incidence ranges from 1 in 30,000 to 1 in 100,000. 

·         Males > females

·         Bilateral in 38 to 50 percent of cases.

·         When unilateral, occurs twice as frequent on right side.

Clinical Manifestation

·         Marked radial deviation of the hand and shortening of the forearm.

·         The thumb ray is usually underdeveloped or absent, as are the radial carpal bones, especially the navicular.

·         The ulna is almost always bowed, with its concavity directed toward the radial side.

·         Hand and arm are small.

·         Shoulder girdle is underdeveloped.

·         Prominence of distal end of ulna.

Treatment

·         Treatment should be started birth; passive stretching and corrective cast may be use.

·         Operative procedure: centralization of the carpus over the end of the ulna. This can be maintained by means of Kirschner wire inserted down the third metacarpal, across the center of the distal ulna epiphysis into the medullary canal.

B.   Congenital absence of the ulna – much rarer than that absence of the radius. The absence of ulna the greater instability is at the elbow joint, whereas the wrist is more unstable in congenital absence of the radius.

Epidemiology

·         1 per million live births

5.    CONGENITAL RADIOULNAR SYNOSTOSIS

Definition

·         An infrequent congenital anomaly. It occurs as a rule at the proximal end of the radius and ulna and is usually bilateral. Sometimes there is a small bridge of connecting bone. There is usually a fibrous union between the bones in the lower third of the forearm. The head of the radius is sometimes dislocated. Occasionally there is a fusion of the radius, ulna, and humerus, with the absence of the elbow joint.

Epidemiology

·         Male=female

Clinical Manifestation

·         The forearm is fixed in a position of pronation or in one that is midway between pronation and supination.

·         Elbow extension is limited.

Treatment

·         Resection of the whole upper end of the radius or the bone between the radius and the ulna, and the space so formed may be filled with fat, muscle, or fascia.

·         Physical therapy treatment is geared towards the prevention of contractures and fibrotic bands since the persistence of fibrotic bands between the bones in the distal part of the forearm is the most disappointing post-operative result. A set of ROM exercises may be done to retard, if not prevent, contracture from setting in.

6.    CONGENITAL CONTRACTURES- may involve any joints. When present at the ankle or the wrist, they may produce clubfoot or clubhand, respectively. They are usually associated with other congenital malformations.

A.   Camptodactyly or flexion contracture of a finger- common; frequently involves both little fingers, is inherited as autosomal dominant trait, and may be associated with shortening of the flexor digitorum submilis tendons.

B.   Congenital contracture of the elbow- usually associated with flexion deformity of the wrist. Shoulder often suffers a limitation of abduction.

C.   Congenital hip flexion contracture- rare; may be associated with flexion of the knee. Such contractures of the knee and hip may result from a long- continued position of flexion in utero.

Treatment

·         Early, gradual manipulation into the corrected position.

·         The use of retention splints.

·         Active exercises if the child is old enough to cooperate.

·         Occasionally, it may be desirable to incise the tight skin and underlying resistant bands; it may be necessary to graft skin over resulting denuded skin.

7.    CONGENITAL ABNORMALITIES OF FINGERS AND TOES

A.   Syndactyly (webbed fingers or toes) – A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.in the hand the fingers on the ulnar side are more often affected then those on the radial side, and the thumb is seldom involved. The union between affected digits may consist only of the skin and connective tissue, and this is referred to as simple syndactyly.  If union between digits includes bone, the syndactyly is called complex. (picture below).

Epidemiology

·         Boys > girls

·         Hand > foot

·         In hand, ulnar side is usually affected than those of the radial side.

·         Thumb is seldom involved.

Apert’s Syndrome (acrocephalosyndactyly) - an inherited disorder characterized by syndactyly of the hands and sometimes of the feet, associated with a pointing of the hand in the region of the anterior fontanel.

Treatment

·         Separation of the involved fingers by dividing the soft tissues and bone structures. It should be done between 18 months and 5 years, when hand function is impaired. Plastic surgery may be done afterwards.

B.   Macrodactyly – an over development of one or more fingers or toes. (picture below)

Treatment

•          Amputation

·         lastic operation to effect a reduction in size.

C.   Polydactyly – presence of more than the number of fingers and toes.(picture below)

Epidemiology

·         1 per 500 births

·         Hand=foot

·         Often bilateral, may be combined with syndactyly.

Treatment

·         Amputation of the extra finger or toe is indicated.

D.   Cleft Hand and Cleft Foot – usually inherited anomaly consist of a cleft or division in the middle of the hand or foot, which results in the formation of large digits or parts. This condition is usually bilateral, affecting the hands more often than the feet.

8.    ASYMMETRIC DEVELOPMENT (CONGENITAL HEMIHYPERTROPHY)

Definition

·         In the normal individual there are often slight differences in the development of the two lateral halves of the body. Such asymmetry is sometimes great enough, however, to be unsightly or even disabling. Hemihypertrophy at times may resemble unilateral elephantiasis, the redundant tissue being of fibrous and fatty nature.

9.    ARTHROGRYPOSIS MULTIPLEX CONGENITA

Definition

·         Is an incomplete congenital fibrous ankylosis of many or all joints of the limb. The trunk is usually spared, but scoliosis may be present. The involvement is usually symmetric and varies in severity from mild deformities to contractures that render the extremities almost functionless.  (picture below)

Epidemiology

·         1 per 3,000 births

Etiology

·         The cause is unknown. Most cases are sporadic and not of hereditary nature. Believed to be various abnormalities of intrauterine environment.

Clinical Manifestations

·         Joint stiffness is the main characteristic.

·         Joint capsules are thickened and contracted.

·         Muscles may be decreased in bulk or entirely absent, being replaced by fat.

·         Internal rotation of the arms and flexion contractures of the wrist. The elbows and knees have fusiform appearance and may be either flexed or extended. The hips are often flexed and externally rotated and sometimes may be dislocated. The patellae are dislocated or absent. The brachialis or biceps may be absent.

Treatment

·         Surgical release of the joint capsule and lengthening of the triceps tendon for contracture extension of the elbow.

·         When biceps muscle is absent or functionless, active elbow flexion may be gained by transfer of triceps or part of the pectoralis major to insert into the proximal ulna. Triceps transfer is contraindicated in the patient who is totally dependent on crutches.

·         After surgical procedures, a program of active exercises should be diligently carried out for a long period of time.

10. CLEIDOCRANIAL DYSTOSIS (picture below)

Definition

·         Partial or complete absence of both clavicles, together with changes in the skull and other bones.

Pathology

·         The characteristic changes are a partial or complete absence of both clavicles and an exaggerated development of the transverse diameter of the cranium with delayed ossification of the fontanels. The upper half of the chest may appear narrow and flat. The muscles in the clavicular region develop in an anomalous manner.

Clinical Manifestations

·         Long neck and low shoulders.

·         A depression in the middle of the forehead and broadening of the occiput due to delay in the fontanel closure.

·         Absence of clavicles allows anterior approximation of the shoulders.

Treatment

·         Little disability and no treatment is indicated

·         If patient complains of pain, however one or both ends of the clavicles, if present, may be removed.

11. CONGENITAL HIGH SCAPULA (CONGENITAL ELEVATION OF THE SCAPULA, SPRENGEL’S DEFORMITY) (picture below)

Definition

·         The scapula is elevated from 1 to 4 inches above its normal position. Usually its inferior angle is rotated medially. The deformity is sometimes bilateral. It usually is associated with other congenital anomalies and especially with scoliosis and defective development of the cervical vertebrae and upper ribs.

Etiology

·         Scapula fails to descend to normal position from its high level in the early weeks of gestation. The cause of the failure is unknown.

Pathology

·         The affected scapula is small. Its vertical length is decreased and its width relatively increased. Its upper portion tends to hook up. The cervical muscles are shortened on the affected side and are changed in direction.  In 25% of the case there is union between one lower cervical vertebra and the scapula; may consist of bone, cartilage or fibrous tissue.

Clinical Manifestations

·         Asymmetry of the shoulders

·         Abduction of the affected side is greatly restricted.

·         In 10% of the cases torticollis is present, together with lateral curvature of the spine.

·         In bilateral cases the neck appears shortened.

Treatment

·         Postural training and exercise of the shoulder to increase joint function

·         Surgical treatment is needed before the age of 5 if motion is greatly limited and the deformity is unsightly; operation includes exposing the scapula axtraperiosteally, excising its deforming supraspinous portion and if omovertebral bone is present, bringing the scapula down to the desired level, and repositioning the muscle attachments to provide anchorage.

12. CONGENITAL SYNOSTOSIS OF THE CERVICAL SPINE (KLIPPEL-FEIL SYNDROME)

Definition

·         Fusion of all or of only the lower cervical vertebrae into one homogenous mass of bone. The posterior portion of some or all of the laminal arches is not developed, resulting in spina bifida, which usually involves the lower cervical vertebrae and one or two of the upper thoracic vertebrae.

Clinical Manifestations

·         Short neck with chin resting on the chest.

·         Posterior hairline is abnormally low.

·         Flexion and extension of the cervical spine are better preserved than is lateral motion.

·         Head and neck may be held in oblique position.

·         Web neck or pterygium colli, trapezius muscles stretch winglike from the mastoid processes to the shoulders.

Treatment

·         No treatment is indicated

·         However, sometimes a plastic surgical operation to release webbing of the neck to improve mobility.

13. CONGENITAL DEFECTS OF INDIVIDUAL BONES

Epidemiology

·         Partial absence of bone> total absence

·         UE is more often bilateral than those occurring in the LE

Phacomelia- complete absence of a middle or intercalary segment of a limb. (picture below)

Sacrum and Coccyx

·          Congenital absence of sacrum is rare. In total absence, with which agenesis of the lumbar spine may be associated, the lower limbs show varied motor and sensory paralysis, atrophy and contractures.

·         Absence of the lower coccygeal segments is of no clinical importance.

Femur

·         Underdevelopment or partial absence of the femur, especially of its upper third, or proximal femoral focal deficiency, is much common than complete absence.

·         For treatment; extensive reconstructive surgery may be required. Aim of treatment is to make the shortened limb as suitable as possible for prosthetic fitting and weight bearing.

·         With partial absent of the femur are often associated complete absence of patella, absence of the fibula, and anomalies of the pelvis on the affected side

Tibia

·         Clinical manifestation; the thigh is rotated externally and adducted, knees are flexed and upper end of fibula is bowed, with its concavity directed medially, and foot is in varus or equinovarus position.

·         Treatment; possible to correct the deformity surgically and to fuse the upper end of the fibula to the femur, the result is not always satisfactory and amputation at or just above the knee is usually preferable.

Fibula (picture below)

·         More common than any other long bone absences.

·         Total absence is observed more frequently than partial absence.

·         Clinical manifestation; in complete or almost complete absence the tibia is usually bowed anteriorly, foot is short, occupies an equinovalgus position and may show deformities of the toes. Affected limb is short.

·         Treatment; strong fibrous band may be present in the region of the missing fibula excision of the band may be helpful. Osteotomy of the fibula is sometimes necessary. Elevated shoe and brace may be used when there is shortening to equalize the leg length. Syme’s amputation may be indicated to permit the fitting of the conventional prosthesis.

Patella

·         Delayed development or imperfect, or complete absent.

·         Bipartite patella, ossification center in the upper and lateral segment fails to fuse with the remainder of the bone.

·         Usually bilateral and no symptoms.

·         Partial or complete absence of patella is usually associated with underdevelopment of the quadriceps tendon and occasionally with dislocation of the knee.

·         Hypoplastic or absent patellae are characteristic absent of uncommon inherited disorder known as onycho-osteodysplasia or nail-patella syndrome.

REFERENCES:

http://www.hmc.psu.edu/healthinfo/pq/poly.htm

http://www.ejbjs.org/cgi/content/abstract/42/2/207

Springer-Verlag, Pediatric Radiology 1995

Brashear-Raney, Handbook of Orthopedic Surgery 10^th Edition 1986

Magee, Orthopedic Physical Assessment 5^th Edition 2009