Skeletal System Diseases - Congenital Theo. PDF

King Khalid University College of Applied Medical Sciences Department of Radiological sciences Course Title :Radiographic Image Interpretation Course No. RAD 439 Credit Hour 2 Prerequisite RAD 313...

King Khalid University College of Applied Medical Sciences Department of Radiological sciences Course Title :Radiographic Image Interpretation Course No. RAD 439 Credit Hour 2 Prerequisite RAD 313 Musculoskeletal Lecture Abnormalities.Congenital anomalies  Lecture outline  Introduction  Definition of MUSK anomalies  Upper and lower limps anomalies: Hand and foot malformation  Clinical aspect  Osteopetrosis  Achondroplasia  Osteogenesis imperfecta  Vertebral anomalies  Musculoskeletal Abnormalities Introduction There are a large number of different musculoskeletal abnormalities affecting one or a combination of bone and muscle development in the skull, trunk and limbs. Upper limps deformity malformation 1.Shoulder A-Shoulder Sprengel's 2.Radial and ulnar Hypoplasia or absence. 3.Hand and wrist Madelung's deformity. 4.finger and toe Syndactyly. Polydactyly. Polysyndactyly.  Shoulder 1.Shoulder Sprengel's  Is a congenital abnormality characterized by abnormally high position of scapula which fails to descend to normal site.  This condition is more common in females and on left.  There is associated muscular atrophy with resulting shoulder dysfunction.  Shoulder Sprengels  The deformity is due to failure of the shoulder girdle to descend from its original position in the neck, a process which is normally completed by the end of the third fetal month.  The lesion is usually unilateral, though it may be bilateral.  Radiographs show the characteristic elevated scapula.  Radial and ulnar  Radial defects are much more common than ulnar.  The defect may range from hypoplasia of the thumb to complete absence of radius, scaphoid, trapezium and thumb.  The limb is shortened and a radial club hand results, with the hand deviated to the side of the absent bone. Hand and wrist Madelung's deformity  This lesion is much commoner in girls and it is generally bilateral.  It usually presents during adolescence.  The basic abnormality is defective development of the inner third of the epiphysis of the lower end of the radius.  As a consequence the radial shaft is bowed, so increasing the interosseous space.  The lower end of the ulna is subluxed backward.  The hand and carpus project forward at the wrist joint to produce a bayonet- like appearance in a lateral view Upper and lower Limps deformity: finger and toe  1-Syndactyly: It is limb malformation characterized by some or all of the fingers or toes wholly or partly united. The result in failure of fingers or toes to separate  2-Polydactyly It is a condition in which a person or animal has more than five fingers or toes on one, or on each, hand or foot. Polysyndactyly  Developmental abnormality where there is a combination of additional digits (polydactyly) that are fused together (syndactyly) and is known as polysyndactyly. Lower limps deformity malformation Congenital hip dislocation Instability and dislocation is usually unilateral (L : R = I I : I ) but both hips may be involved (unilateral : bilateral = 11:4). Females are more commonly affected (F : M = 5 : I). (a)There is originally a congenital instability of the hip which later dislocates by muscle pulls or gravity if untreated. (b) Growth of the femoral head, acetabulum and innominate bone are delayed until the femoral head fits firmly into the acetabulum.  Club food Club foot (Talipes): A deformed foot in which the foot is plantar flexed, inverted, and adducted. Also it is defined as a congenital abnormality of the foot, which is twisted out of shape. Congenital malformation that prevent normal weight bear and the foot turned inward at the ankle, more common in M than F can occur bilateral or unilateral  Achondroplasis - a hereditary condition in which the growth of long bones by ossification of cartilage is retarded (delay), resulting in very short limbs and sometimes the face is small in relation to the (normal-sized) skull, which result in bone deformity and dwarfism. Clinical findings - Patient recognized by shortened in extremities in children - In adult no more than 4 feet in height with less than halve length lower extremities of normal. - Extreme lumber lordosis –a bulky forehead with midface hypoplasia  Achondroplasia Imaging Findings for Achondroplasia: - Shortening of tubular bones with a normal shaft caliber. - Short phalange- - Fingers widely opposed and equal length - Enlarged skull vault and mandible - Small foramen magnum - Decreased lumber inter-pediculate distance and narrow spinal canal  Spine deformity 1- Butterfly vertebra 2- Sacralization 3-Neural tube defects 4-Cervical rib. 5- Scoliosis 6-Kyphosis 7- Inherited disorder & Genic disorders Butterfly vertebra A butterfly vertebra is a type of vertebral anomaly and results from the failure of fusion of the lateral halves of the vertebral body  Lumbarization Is a term that refers to an anatomic anomaly in the human spines. It is defined by the non-fusion of the first and second segments of the sacrum. The lumber spine appears to have six vertebrae or segments, not five. Conversely the sacrum appears to have only four segments instead of its designated five segments. Sacralization Sacralization is a congenital anomaly, in which the transverse process, of the last lumbar vertebra, (L5) fuses to the sacrum,on one side or both, or to one ilium, or both. Sacralization Sacralization is a congenital anomaly, in which the transverse process, of the last lumbar vertebra, (L5) fuses to the sacrum,on one side or both, or to one ilium, or both.  Neural Tube Defects (Posterior Midline Defects / (Dysraphism))  Results from failure of the neural tube to close spontaneously between the 3rd and 4th week of in-utero development.  Possible etiologic factors: 1. Radiation 2. D rugs 3. Malnutrition 4. Chemicals 5. Genetic determinants Neural Tube Defects There are three main types 1. Spina bifida occulta 2. Meningocoele / Myelomeningocoele 3. Anencephaly  Spina Bifida  Midline defect of the vertebral bodies without protrusion of the Spinal cord (SC) or meninges  May be asymptomatic without neuro signs.  In some, patches of hair, lipoma, discoloration of skin or dermal sinus may be present  Meningocoele  Formed when the meninges herniated through a defect in the posterior vertebral arches  SC may be normal  A fluctuant (change contentiously) mass Imaging :  plain x-ray, MRI for the spine, CT of the head  Cervical spine  Cervical rib  Common anomaly  The rib places pressure against the blood vessels or muscles going through the neck into the arm. Investigations: X-ray, sonogram, magnetic resonance imaging (MRI) or other computerized tomography (CT) scans.  Cervical rib Symptoms Cervical rib Symptoms If the extra rib does press on a vessel or nerve, the following symptoms are present : - pain in the shoulder and neck, which spreads into the arm - weakness or tingling in the affected arm and fingers - moments hand movements, - affect the blood supply to the fingers, causing small patches of red or black discoloration - swelling in the affected arm  Scoliosis Scoliosis: abnormal lateral curvature of the spine There is lateral deviation of the spine with a 3-fold deformity: A-Lateral flexion B-Forward flexion C-Rotation of the vertebral column on the long axis  Kyphosis Definition:- Kyphosis: excessive outward curvature of the spine, causing hunching of the back. Many things can cause Kyphosis, including: A- trauma B- developmental problems disease C- compression fractures of the vertebrae arthritis D- Spinal problems eg (scoliosis) Inherited disorder & Genic disorders 1) Inherited disorder [Osteopetrosis] 2) Genic disorders [Osteogenesis Imperfecta(OI) (Brittle bone disease)]  Osteopetrosis  Osteopetrosis, literally "stone bone", also known as marble bone disease and, is rare inherited disorder whereby the bones harden, becoming denser.  Osteopetrosis can cause bones to dissolve and break.  Cause: unknown.  Radiological finding: show a bone-in-bone appearance  Osteogenesis Imperfecta(OI) (Brittle bone disease) Osteogenesis imperfecta is a condition causing extremely fragile bones. It is frequently caused by defect in the gene The classic symptoms include:-  Fracture and bruise easily  Early hearing loss (deafness)  Lax joints, thin skin  Limps (walk with difficulty) deformities Image findings  Multiple fractures  Wormian bones  Beaded ribs (multiple ribs deformities)