N : Presented by:-
DR NAVEEN GURJAR
PG RESIDENT DEPT OF RADIO-DIAGNOSIS
MAHATMA GANDHI MEDICAL COLLEGE & HOSPITAL N Congenital & chromosomal skeletal anomalies CONGENITAL SKELETAL ANOMALIES : UPPER LIMB : CONGENITAL SKELETAL ANOMALIES Adactyly-absence of fingers
Amelia -absence of limbs
Brachymesophalangy -short middle phalanges
Clinodactyly -incurving of a finger, usually the fifth, in the
Hyper- or hypophalangism-the presence of a greater or lesser
number of phalanges
Longitudinal defect-absence of part of a limb along its longitudinal axis; this may be pre-axial (radial), post-axial or central. CONGENITAL SKELETAL ANOMALIES : Transverse defect-normal development of a limb to a particular level, beyond which no skeletal elements are present, although there may be digital buds
• Macrodactyly-enl -enlargement of a digit
• Polydactyly-increased number of digits: may be pre- or postaxial
• Symphalangism-fusion of phalanges in one digit
• Syndactyly fusion of adjacent digits. May involve soft tissues and/or bone.
Sprengel’s shoulder-this deformity consist of abnormal high scaphula CONGENITAL SKELETAL ANOMALIES sprengel’s shoulder : This deformity consists of an abnormally high scapula. The deformity is due to failure of the shoulder girdle to descend from its embryonic 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. The Scapula may be normal in shape, but usually there is some shortening of its vertebral border with the result that its shape approaches that of an equilateral triangle.
From the upper part of the vertebral border or from the superior angle, an accessory bone the omovertebral or suprascapular bone may be found uniting this part of the scapula to the spine
Other anomalies are cerviacle bifida, klippel-feil anomaly, cervical rib,scoliosis and hemivertebra. sprengel’s shoulder Sprengels shoulder : Sprengels shoulder Sprengels shoulder : Sprengels shoulder THE SCAPULA IS ELEVATED AND A LARGE OMOVERTEBRAL or suprascapular BONE IS SHOWN cont…... : RADIUS & ULNA DEFECTS in major syndromes: cont…... • Ectodermal dysplasia
• Holt-Oram syndrome
• Fanconi's syndrome
• Thrombocytopenia-absent radius syndrome
• Trisomy 18
• Thalidomnide embryopathy
• Renal, ear and oesophageal anomalies Radius and ulna defect : 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. Radius and ulna defect Congenital synostosis of radius and ulna : Synostosis usually occurs at the proximal ends of th forearm bones, which are united for a distance of 3 to 6 cm.
The affected forearm is apt to be shorter than normal and the hand is held in more or less pronation, which is often extreme.
The distal end of the radius is usually heavier than normal, while that of ulna is frequently reverse.
No movements between 2 bone’s, although the joints with the humerus is usually unaffected.
The condition is frequently bilateral. Congenital synostosis of radius and ulna Congenital synostosis of radius and ulna : Congenital synostosis of radius and ulna Madelung's deformity : This lesion is much commoner in girls and it is generally bilateral.
It usually presents during adolescence.
The cardinal 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,s o 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
The lesion is a part of leri-weill syndrome and turner syndrome. Madelung's deformity Madelung's deformity-defective development of theinner third of the radial epiphysis, increase in interosseous space, backwardprojection of the ulna and anterior displacement of the hand.(A&B) : Madelung's deformity-defective development of theinner third of the radial epiphysis, increase in interosseous space, backwardprojection of the ulna and anterior displacement of the hand.(A&B) Preoperative photograph of 17-year-old girl patient with idiopathic Madelung deformity. : Preoperative photograph of 17-year-old girl patient with idiopathic Madelung deformity. Hand and Wrist : CARPAL FUSION
Much commoner in black skinned people.
Carpal fusion may occur in isolation or as a part of a syndrome.
In isolation they are usually transverse , for example lunate - triquetrum and capitate – hamate.
Occur on syndrome like apert’s syndrome, dyschondrosteosis, chondroectodermal dysplasia,holt-oram syndrome and turner syndrome. Hand and Wrist Left wrist showing the fusion : Left wrist showing the fusion Right wrist showing the fusion : Right wrist showing the fusion polydactyly : Polydactyly is a condition in which a person has more than five fingers per hand or five toes per foot.
More common in black people.
Post axial(ulnar) and may range from minor ossicle to complete duplication of the little finger.
Pre axial(radial)range from minor partial duplication of the thumb distal phalanx to complete thumb duplication.
Associated with ellis-van creveld syndrome, laurence-moon-beild syndrome, trisomy 13, holt-oram syndrome, fanconi’s anemia polydactyly polydactyly : polydactyly polydactyly : polydactyly syndactyly : It is a condition where two or more digitis are fused together.
It occur in apert’s syndrome, fanconi anemia, laurance-moon-bield syndrome, trisomy 13 and 18. syndactyly Incomplete syndactyly : Incomplete syndactyly Complete syndactyly : Complete syndactyly syndactyly : syndactyly Lower limb : Developmental dysplasia of the hip.
Proximal femoral focal deficiency(PFFD) (congenitally short femur).
Idiopathic coxa vara of childhood.
Abnormalities of the patella.
Congenital pseudarthrosis of the tibia and fibula.
Accessory bones of foot.
Congenital vertical talus
Ball and socket ankle joint.
Congenital fusions. Lower limb Developmental dysplasia of the hip epidemiology : Developmental dysplasia of the hip epidemiology 1 in 100 newborns examined have evidence of instability ( positive Barlow or Ortolani)
1 in 1000 live births true dislocation
most detectable at birth in nursery
Barlow stated that 60% stabilize in 1st week and 88% stabilize in first 2 months without treatment remaining 12% true dislocations and persist without treatment
Coleman26% become dislocated, 13% partial contact 39% located but dysplatic features 22% normal Etiology : Etiology Genetic and ethnic
increased native Americans but very low in southern Chinese and Africans
positive family history 12-33%
10x risk if affected parent, 7X if sibling
breech position ( normal pop’n 2-4% , DDH 17-23% )
neuromuscular conditions like myelomeningocele
high association with intrauterine molding abnormalities including metatarsus adductus and torticollis
female baby ( 80% cases)
left hip more common Radiological Diagnosis : Radiological Diagnosis classic features
increased acetabular index ( n=27, >30-35 dysplasia)
disruption shenton line ( after age 3-4 should be intact on all views)
absent tear drop sign
delayed appearance ossific nucleus and decreased femoral head coverage
failure medial metaphyseal beak of proximal femur , secondary ossification center to be located in lower inner quadrant
center-edge angle useful after age 5 ( < 20) when can see ossific nucleus Slide 28: Pe Slide 29: Bilateral congenital dislocation of the hip. The initial radiograph demonstrates lateral subluxation of both femoral heads with dysplastic acetabula. The ossifying nucleus can be seen developing at the midpoint of the growth plate. Its eventual position could be predicted from the original plain film.
(B) End-stage undiagnosed bilateral CDH. The femoral heads have molded in their new situation and articulate with the iliac blades. Slide 30: (A) Coronal scan of a 3-month-old baby's hip. The ilium (II) is parallel to the transducer. The femoral head (F) is round and of speckled low echogenicity with a central bright echogenic ossific centre. The bony acetabulum (Ac), cartilaginous labrum (Lb), triradiate cartilage (tr) and ischium (Is) should be seen if in the correct plane (gluteal muscle = GI ultrasound ultrasound : Coronal scan of normal hip showing Graf angles (a = bony acetabular roof angle and /3 =the cartilaginous acetabular roof angle) ultrasound Arthrography of the infant hip : Arthrogram of the left hip shows filling defect caused by in verted limbus arrow. Arthrography of the infant hip Appearance following limbectomy Slide 33: Arthrogram of the hip showing 'rose thorn' appearance of the normal limbus (arrow). The 'rose thorn' is larger than usual. Arthrography of the infant hip Hip arthrogram in a child. The acetabulum is dysplastic : (A) In abduction the femoral head is congruous with the acetabular cartilage Hip arthrogram in a child. The acetabulum is dysplastic (B) In the neutral position the femoral head is incongruous, with pooling of contrast agent medially. Proximal femoral focal deficiency(PFFD) : Proximal femoral focal deficiency(PFFD) Also known as congenitally short femur.
Torode & gillespie classify into 2 groups.
Group 1- the patient have congenitally short femur, coxa vara & hypoplastic knee. the foot is normal.
Group 2-the femur is very short and head and neck may be absent. there may be a variable fibular deficiency, with a short fibula and valgus deformity at the ankle. (PFFD) : Proximal focal femoral deficiency. Only a hypoplastic portion of the distal right femur is apparent. (PFFD) Idiopathic coxa vara of childhood. : Idiopathic coxa vara is a deformity of the femoral neck characterized by a decrease in the normal angle formed by the neck and the shaft of the femur as a result of caudal bowing in the region of the neck
Coxa vara, coxa adducta, coxa flexa,Alteration of the angle made by the axis of the femoral neck to the axis of the femoral shaft so that the angle is less than 135°; the neck becomes more horizon.
Two types of idiopathic coxa vara arc recognised:
I . A congenital form, generally present at birth, sometimes associated with other congenital lesions
2. An infantile form, not present at birth, recognised around the age of 4 years and often bilateral (33%). Idiopathic coxa vara of childhood. coxa vara : Radiographically, an angle of less than 120 degrees is seen between the femoral shaft and neck.
Femoral head will be situated low in the acetabulum & its outline appers wooly.
A triangular fragment of bone may be seen at the lower part of the femoral neck. This wedge of bone, commoner in the infantile cases, is hounded by clear bands forming an inverted V (Fig) coxa vara coxa vara : coxa vara Abnormalities of the patella. : A small laterally placed patella is shown Abnormalities of the patella. Congenital pseudarthrosis of the tibia and fibula. : Pseudarthrosis (or "nonunions") is the movement of a bone at the location of a fracture resulting from inadequate healing of the fracture.
Pseudarthrosis can also result from a developmental failure.
The radiological case may show a sclerotic radiolucent zone of affected area.
This bows, resorbs and fractures and the bone end become sclerotic.
Pseudarthroses are seen bilaterally. The fibulae are thin and bowed. Congenital pseudarthrosis of the tibia and fibula. accessory bones of the foot : Often bilateral
Will generally be uniform and round
Will contain cortical bone and trabeculae
DDx with fractures accessory bones of the foot Accessory navicular os trigonum accessory bones of the foot : accessory bones of the foot Slide 44: Avascular necrosis of the os trigonum. (A) This bone is sclerotic and would be grossly abnormal on a bone scan. (b) CT scan. accessory bones of the foot : Sesamoid’s at the metatarsal head. accessory bones of the foot % of the sesamoid incidence in bizarro’s series Talipes deformity. : Talipes deformity. Congenital talipes equinovarus(clubfoot).
(A) On the AP view the heel is in varus and the forefoot
also. (B) There is extreme cavus on the lateral view. The
foot bears weight laterally on the fifth metatarsal. Talipes deformity. : C) The oblique view of the foot shows the calcaneum in equinus. Talipes deformity. Congenital vertical talus : The talus is vertical, its long axis following that of the tibial shaft. The vertical displacement of the talus remains constant whether the patient is standing or recumbent.The bones of the forefoot and the calcaneus are raised and produce the typical rocker-bottom foot.
The heel is in valgus. The talus is no longer supported by the calcaneum and is planter flexed. The calcaneus is flat and the longitudinal arch is flattened.knonw as flat foot. Congenital vertical talus Congenital vertical talus : Congenital vertical talus (A) The anterior view shows calcaneus
valgus and metatarsus valgus. The long axis of the talus is much medial to the first metatarsal. (B) On the lateral view equinus of the calcaneus and vertical orientation of the talus are shown. The navicular has not yet ossified. Congenital vertical talus : In this adult patient there is a rocker-bottom foot with vertical orientation of the talus. The navicular articulates with the anterior aspect of the talar dome and the neck. There is a flat longitudinal arch. Congenital vertical talus Congenital fusion : Painful flat foot (the peroneal spastic flat foot) may be due to fusion of certain tarsal bones.
The lesion may be cartilaginous or fibrous, in which case the two hones are hypertrophic and closely approximated but not fused.
Flattening of the longitudinal arch of the foot is seen.
The most common form of hindfoot fusion is talocalcaneal, usually at the middle facet, or sustentaculotalar joint.
The less common calcaneonavicular fusion is best seen on a conventional oblique radiograph of the foot(fig) Congenital fusion The pelvis : These are bony processes projecting dorsally from the outer surface of the wings of the ilium.
Iliac horns are seen (arrows). The pelvis The spine : Coronal cleft vertebra.
Malfusion’s of appendages.
Congenital vertebral fusion.
Sacralisation and lumbarisation.
Anomalies of lumbosacral facets.
Scoliosis . The spine Coronal cleft vertebra : This anomaly is seen in vertebral bodies of newborn infants and is due to the failure of fusion of two ossification centers.
The cleft is seen on a lateral radiograph as a linear or oval defect between a small posterior and larger anterior ossification centres. The anteroposterior diameter of the affected vertebral body is often increased.
Anteroposterior radiograph of the spine shows spina bifida occulta with a large coronal cleft and complete duplication of L1–L4 lumbar vertebral bodies. Because of the rotation abnormality, the L5 vertebra could not be clearly differentiated from sacrum(fig) Coronal cleft vertebra Butter fly vertebra : Butter fly vertebra In the affected vertebra, the upper and lower surfaces are deeply concave or V-shaped, so that the vertical dimension of the vertebral body in the midline is much reduced.
(A) The upper and lower surfaces of affected vertebra are V-shaped, and contiguous vertebrae are moulded into the deficient centre.
(B) MR image showing the same deformity. Butter fly vertebra Hemi vertebrae : 1. a developmental anomaly in which one side of a vertebra is incompletely developed.
2. a vertebra that is incompletely developed on one side.
(A) On the plain film there is a right-sided hemivertebra causing a significant osteogenic sclerosis concave to the left. Hemi vertebrae Congenital vertebral fusion : Complete fusion of the bodies and neural arches may occur, or the fusion may be limited to parts of the bodies or neural arches.
The AP diameter of congenital block vertebrae may be reduced and an anterior concavity may be found.
Complete vertebral fusions are often called 'block vertebrae.
The such lesion are common in KLIPPEL-FEIL SYNDROME & FIBRODYSPLASIA OSSIFICANS PROGRESSIVA. Congenital vertebral fusion Separate odontoid : The odontoid peg may sometimes he completely detached from the body of the second cervical vertebra, and be situated in the region of the foramen magnum
OS odontoideum. The odontoid pegs is clearly separate from the body of c2 but retains a normal relationship with the arch of the atlas.(fig) Separate odontoid Cervical rib : The supplementary rib usually arises from the seventh cervical vertebra, rarely from the sixth and very rarely from the fifth.
At MR imaging the lesions are less well defined (arrows), but any associated fibrous attachments are seen with this imaging modality. Cervical rib Cervical rib : Cervical rib Sacralisation and lumbarisation : Small, or absent, ribs on TI2 may occur with large transverse processes on L5 which fuse with the sacrum (sacralisation of L5). This is known as cranial shift.
Caudal shift implies the presence of ribs on LI and lumbarisation of SI.
Localisation of the l5 vertebral body at axail imaging by the presence of the iliolumbar ligament. This leads from the tranverse process of l5 to the adjacent iliac blade.(fig) Sacralisation and lumbarisation Anomalies of lumbo sacral facets : The facet joints in the lumbar spine may be clearly seen in the AP projection.
They should be symmetrical but vary in their orientation.
At LI the facets have an almost vertical orientation but passing inferiorly are reorientated so that they face upward, inward and backward.
Facets are angled at around 52 in the sagittal midline at L5/S I but 10' less at L4/5.
The lower facets are asymmetrical in around 20-30% of patients Anomalies of lumbo sacral facets Spina bifida : Incomplete fusion of neural arches is a common finding.
In most cases only a minor mid sagittal defect in the neural arch is seen.
Central laminar defects are demonstrated throughout the lumbar spine. There is quite marked separation of the pedides, which are hypoplastic.(fig) Spina bifida scoliosis : This term describes a lateral curvature of the spine.
Classification of scoliosis:
congenital, e.g. Hemivertebra
skeletal dysplasias, including neurofibromatosis
Neuropathic, e.g. polio. Syringomyelia.
Hypopathic, e.g. Muscular dystrophy
Thoracogenic, e.g. post-pneumonectomy scoliosis scoliosis : (A) The initial radiograph
shows a moderate thoracic scoliosis with compensation inferiorly scoliosis (B) Four years later the curves have increased in the coronal plane, as well as the degree of spinal rotation scoliosis in neurofibromatosis : (A) There is a very acute curve
i n the lumbar spine with marked rotation. scoliosis in neurofibromatosis (B) Dural ectasia is seen on the
l ateral view. Down's syndrome(trisomy 21) : Brachycephaly, hypoplasia of the nasal bones, maxillae and sphenoids, and absent frontal sinuses.
The interorbital distance is decreased in most cases, indicating orbital hypotelorism.
The middle and distal phalanges of the fifth digits are often hypoplastic and curve inward-clinodactyly.
Congenital heart disease is frequently found in Down's syndrome children, as is an aberrant right subclavian artery.
The lumbar vertebrae are often greater in height than in width,a reversal of the normal ratio, and they show concave anterior surfaces. Down's syndrome(trisomy 21) Turner 's syndrome : Density of the skeleton, especially of the hands and feet, is reduced.
The so-called `metacarpal sign' is an expression of gross shortening of the fourth metacarpal.(fig)
The increase in the carrying angle of the elbow is better assessed clinically than radiologically.
Maldevelopment of the clavicles and slender ribs are often seen.
Kyphosis and scilicosis are found.
Hypoplasia of the atlas and odontoid peg may be seen. Turner 's syndrome Slide 69: Thank you