Congenital Flashcards by Josh Goodman

Agensis of C1 posterior arch

0.1% of population
Note complete failure of posterior arch to ossify
Often associated:
C2 megaspinous
Hypertrophy of C1 anterior arch
Stable or unstable?
Contraindication to SMT if transverse ligament affected

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Agenesis of Dens

Rare finding, incidence unknown
Complete contraindication to SMT
Note change in shape of C1 anterior arch on this radiograph
Assess for instability via flex/ext radiographs – possible surgery

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Agenesis Pedicle

Note sclerosis of contralateral pedicle
DDx: lytic metastases
Observe additional bony destruction
No stress response in C/L pedicle

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Agenesis Articular Process

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Hemivertebra

Failure of growth of one of two lateral ossification centres
Short, angular structural scoliosis

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Caudal Regression Syndrome

Sacral agenesis with possible involvement of lower lumbar segments
Teratogenic or spontaneous genetic mutation
Increased in babies with mothers with diabetes
Flat or depressed sacral area
Deficient musculature lower limbs
With weight bearing (if possible) the 2 ilia will articulate with premature DJD
Note: smooth borders = not acquired

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Developmental Hip Dysplasia

Deformity of acetabulum and dislocation of femur
Screening tests on newborns
Diagnosis by x-ray or ultrasound
Putti’s triad:
- Absent/small femoral epiphysis
- Lateral displacement of femur
- Increased inclination acetabular roof

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Negative Ulnar Variance

Shorter ulnar
Thicker TFCC
Possible associations with:
- Avascular necrosis of the lunate
- Posttraumatic scapholunate dissociation
Rx: radial shortening osteotomy to realign radiocarpal joint

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Os Odontoideum

0.04%
Failure of fusion of both primary ossification centres of dens
Lucent gap between dens and body of C2
Note atlantoaxial instability
Contraindication to SMT

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Ossiculum Terminale

Failure of fusion of apophysis at tip of dens
Usually fuses by 16yrs but may persist into adulthood
Clinically insignificant

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Spina Bifida Occulta

Failure of fusion of lamina
Clinically insignificant
Lucent gap between lamina
SP diminutive or absent
Double spinous process appearance
- Don’t confuse with bifid SP

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Spina Bifida Vera

Note wide failure of laminae fusion
Larger defect than in SBO
- no protection for spinal cord
- clinical symptoms of spina bifida
May be associated with meningiocele or myelomeningocele
Extrusion of meninges +/- spinal cord posteriorly

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SBO C1 (Spondyloschisis)

3% population
Lack of spinolaminar junction line at C1
Clinically insignificant

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Clasp-knife deformity

SBO S1 with caudal enlargement of L5 SP
Pain on extension
Most SBOs occur at S1

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Butterfly Vertebra

Failure of fusion of primary vertebral body ossification centres due to
- Persistence of notochordal tissue
- Placement of intraosseous blood vessels
Adaption of other vertebrae
Clinically insignificant as isolated anomaly

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Limbic Bone

Note separation of ring epiphysis by vertical disc herniation
- failure of fusion
Low thoracic and lumbar vertebrae, usually anteriorsuperior corner of vertebral body
Well corticated and smaller fragment
DDx: Normal ring epiphysis (age), fracture (location, non-smooth margins, fragment ‘fits’ back in gap)

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Normal Ring Epiphysis

Usually fuse by 19-yrs but may fuse as late as 25-yrs.
Note presence at superior and inferior corners

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Persistent Apophysis

Persistent T1 transverse process apophyses
Fragment smaller than defect
Smooth borders
Minimal displacement
Clinically insignificant

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Os Acromiale

Unfused acromion apophysis
Approx 8% of population, approx 60% of those bilateral
No increased incidence of rotator cuff tears
Clinically insignificant

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Os Acetabuli

May indicate:
- Femoroacetabular impingement (form of stress fracture)
- Nonunion of apophysis (clinically insignificant)

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Bipartite/Tripartite Patella

Most commonly in superolateral quadrant
Need to differentiate from fracture
- Location
- Smooth margins
- Smaller fragment
- No traumatic history

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Occipital Vertebrae

Epitransverse/ paracondylar/ paramastoid processes
Defective fusion laterally
0.1% population
Decreased ROM
Contraindication to SMT
- Risk for post traumatic basal subarachnoid haemorrhage
- Can’t manipulate as fused

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Occipitalisation

0.5-0.8% population
C1 fused to occiput
Possible atlantoaxial instability
Flexion & extension views indicated
Contraindication to SMT until proven otherwise
May cause basilar impression
- compression of medulla and cord by odontoid at foramen magnum: Symptomatic headaches, decreased ROM, visual, auditory, upper limb neural changes
Early DJD of adjacent segments
May be associated with platybasia, Arnold-Chiari (Type I), Sturge-Weber, Klippel-Feil

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Basilar Impression

Upward displacement of normal upper vertebral elements into foramen magnum
Headache, nystagmus, pyramidal tract and posterior column signs
Absolute contraindication to SMT
McGregors line
- Odontoid should not project above the line by >4.5mm
Congenital
- Associated with:
  - Occipitalisation
  - Spondyloschisis
  - Odontoid or atlas anomalies
  - Klippel-Feil
Acquired
- Conditions resulting in bone softening

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Block Vertebra

Congenital block vertebra
- 1% population
- Failure of vertebral bodies to separate
- Premature DJD around fusion (usually below)
- Decreased AP diameter (wasp waist)
- Rudimentary disc space
- Possible fusion of facets (50%)
- Possible malformation or fusion of SPs
Acquired block vertebra
- Surgical
- Traumatic
- Infectious
- Degeneration
- Barrel shaped

Lumbosacral Transitional Segments

Up to 17% population
Unilateral/bilateral
L5 TVP/s is larger/malformed and either articulates with or is fused to the sacrum (sacralisation)
S1 body appears similar to a lumbar vertebra, TVP/s still malformed (lumbarisation)
Normally shaped TVPs: NOT a lumbosacral transitional segment
May need alteration of SMT due to change in articulation at L5/S1

Castellvi classification

Type I: enlarged and dysplastic transverse process
- Ia: unilateral
- Ib: bilateral
Type II: pseudoarticulation of the enlarged transverse process with the sacrum
- IIa: unilateral
- IIb: bilateral •
Type III: enlarged transverse process fuses with the sacrum
- IIIa: unilateral
- IIIb: bilateral
Type IV: type IIa on one side and type IIIa on the contralateral side

Tarsal Coalition

Fibrous union or bony bar between 2 or more tarsals
Congenital
Acquired: posttraumatic, inflammatory arthritis
Symptoms associated with early DJD
Pain in tarsal region, limited subtarsal/midtarsal movement, flat foot, prominence of peroneal tendons
May cause chronic inversion injuries of ankle
Can be corrected surgically
Talar beak may be associated

Syndactyly

Posterior Ponticle

Present in up to 21% of patients
Calcification of oblique atlantooccipital ligament
DDx: laterally flexed C1
Transmits vertebral artery and C1 nerve
Most often unilateral
Rarely may cause traction and compression of vertebral artery if arcuate foramen is of small caliber
Not considered a general contraindication to SMT
Not generally related to symptoms

Cervical Ribs

0.5% population (5% in study of xrays at MU clinics)
Articulates with caudad facing TVP (C7, C6, C5)
Unilateral/bilateral
Implicated in TOS irrespective of apparent size of rib

Nuchal Bone

Calcification of nuchal ligament
DDx: fracture or persistent apophysis of spinous process
Clinically insignificant

Eagles Syndrome

Calcified stylohyoid ligaments
30-50 yrs, increased female
Unilateral sore throat, dysphagia, tinnitus, otalgia, unilateral facial and neck pain, neurological symptoms on neck rotation
May contact internal carotid artery – possible compression on head rotation or artery dissection
Contraindication to manipulation

Supracondylar Process

Always projects towards the joint
DDx: osteochondroma
3% of population
May compress median nerve or brachial artery
May fracture

Positive Ulnar Variance

Polydactyly

Facet Tropism

Asymmetrical facet joints
Note L5-S1 facets – one is sagittal and one is coronal
May occur at any lumbar level
May change biomechanics of adjustment

Schmorl’s Nodes

Vertical herniation of nuclear material through vascular grooves of endplate apophysis
Squared-off, sharp, rectangular rim of sclerosis into vertebral body
Increased sagittal width
Decreased disc height common
Invagination of superior vertebra into schmorl’s node: longstanding process

Nuclear Impressions

Normal variant
Persistence of notochordal tissue
Not to be confused with Schmorl’s nodes
Note smooth indentation
Note “Cupid’s bow” deformity
Of no clinical significance

Venous Channels of Hahn

Persistent venous channels of no significance

Paraglenoid Sulci

Transmits the superior branch of gluteal artery
Female pelvis
Possibly post-partum

Klippel-Feil Syndrome

Classic triad (completely expressed in 52%)
- Short, webbed neck
- Low hairline
- Decreased cervical ROM
Sprengel’s deformity (in 25%)
Multiple block vertebrae cervical and upper thoracic spine
Anomalies of rib development
Scoliosis
Basilar impression
Multiple system involvement
- Genitourinary
- Nervous
- Cardiopulmonary

Sprengel’s Deformity

Congenital elevation of the scapula
Associated with omovertebral bone in 30-40% of cases
Limited shoulder abduction, torticollis

Omovertebral Bone

Extra bone between the cervical spine and the scapula

Achondroplasia

Clinical Features
- Normal mentation
- Shortened long bones (rhizomelia)
- Large head, prominent forehead, flattened nasal bridge
- Hydrocephalus
- Spinal stenosis
- Sleep apnea
- Trident hand – widely spaced 3rd & 4th digits

Radiologic Features

Skull
- Small foramen magnum
- Basilar impression
Spine
- Angular thoracolumbar kyphosis
- Hyperlordotic lumbar
- Horizontal sacrum
- Short thick pedicles, decreased interpedicular distance
- Spinal stenosis
- “Bullet-nosed” vertebrae
- Posterior scalloping of vertebrae
Appendicular skeleton
- Scapulae squared inferiorly
- Short flat ilia, short ribs
- Metaphyseal cupping, esp. proximal long bones
- Short, thick tubular bones in hands & feet; trident hand

Cleidocranial Dysplasia

Clinical Features

Normal mentation
Large head, small face
Abnormal dentition, periodontitis and severe caries
Sometimes hearing loss due to ossicle abnormalities
Drooping, hypermobile shoulders
Narrow cone-shaped chest

Thorax

Agenesis or hypoplasia of clavicles
Scapulae small, may be winged or elevated

Pelvis

Small underdeveloped pelvic bones
Early coxa valgus, changing to coxa varus with age

Spine

Biconvex vertebrae
SBO, cervical & upper dorsal
Hemivertebrae
Lumbar spondylolysis
Abnormal curvatures

Extremities

Elongated 2nd metacarpal due to accessory epiphysis
Pointed hypoplastic distal phalanges
Radius occassionally shortened

Spondyloepiphyseal Dysplasia

Clinical Features

Short limbs, flat face, widely spaced eyes
Cleft palate, hearing loss, myopia
Short spine, exaggerated curves

Radiologic Features

Delayed ossification
Coxa vara, short ilia, flat acetabulae
Platyspondyly, bulbous anterior margin (pear shaped)
Scoliosis, kyphosis, lordosis
Decreased disc height
Hypoplastic dens – contraindication to SMT

Holt-Oram Syndrome

(syn : heart-hand syndrome; cardio-limb syndrome)

Clinical Features

Spares lower limb
Cardiovascular abnormalities
- Patent atrial septum most common
Upper limb abnormalities
- Limited elbow ROM or dislocation
- Hypoplasia or absence radial head
- Absent or hypoplastic radius
- Shoulder abnormalities
- Absent thumb
- Extra digit

Radiologic Features

Thumb anomalies
- extra phalanx
Carpal abnormalities
- extra carpal bones, fusion
- Short middle phalanx, little finger
Hypoplasia or agenesis radial head
Sprengel’s deformity

Fibrodysplasia Ossificans Progressiva (syn : Munchmeyer’s disease, myositis ossificans progressiva)

Clinical Features

Soft-tissue calcification
Affects striated muscle only
Iatrogenic osteomalacia: pathological fractures common
Manipulation contraindicated
Torticollis – SCM hot,painful,oedematous
75% have microdactyly; thumb anomalies; phalangeal synostosis
1 in 2 million patients

Radiologic Features

Anomalous digits : great toe & thumb
Short 1st & 5th mc.
Hypoplastic discs calcify
Ectopic ossifications:
Muscles, tendons, ligaments, fascia

Marfan’s Syndrome

Clinical Features

Common dysplasia – 6 per 100,000
Normal mentation
Involves skeletal, ocular and cardiovascular systems
Connective tissue disorder – inferior quality collagen
Atlanto-axial instability – contraindication to manipulative therapy
Tall, thin individuals > 180 cms
Elongated extremities, especially distally and lower limbs
Hypotonic musculature, scant fat
Joint laxity – dislocations, genu recurvatum, pes planus
Dolichocephaly : long face, arched palate, prominent jaw, anomalous dentition
Ocular abnormalities: dislocated lens, detached retina, cataracts, myopia, absent dilator muscles
Congenital heart disease; aneurysms, valve disease
“Thumb sign” – flexed thumb protrudes beyond closed fist
Pectus excavatum, pectus carinatum
Arachnodactyly

Radiologic Features

Arachnodactyly
Thin cortices, delicate trabeculae but no osteoporosis
Acetabulae protrusio
Tall vertebrae with posterior scalloping
Scoliosis or kyphoscoliosis
Widened lumbar spinal canal
Thin laminae & pedicles (due to dural ectasia)
SFCE
Atlanto-axial instability

Metaphyseal Dysplasia

Clinical Features

Health unimpaired, normal lifespan
Tall, joint pain, contractures, muscle weakness

Radiologic Features

Erlenmeyer flask deformity, especially lower limb
Platyspondyly

Nail-Patella Syndrome

(syn : HOOD [hereditary osteo-onychodysplasia]; Fong’s Syndrome)

Clinical Features

Early death due to kidney dysplasia
Dysplastic finger nails (usually 1st & 2nd)
Absent patellae
Asymmetric femoral condyles cause deformity, gait disturbance, genu valgum
Increased elbow carrying angle ; radial head dislocation
Soft-tissue abnormalities : joint contractures, finger webbing (syndactyly), muscle hypoplasia
Abnormal iris pigmentation

Radiographic Features

Paired posterior iliac “horns”
Flared or shortened iliac wings

Ehlers-Danlos Syndrome

(syn : arthrochalasia multiplex congenita)

Clinical Features

Connective tissue disorder
Normal mentation • Predilection for white, European males
“Rubber man”
Joint hyperflexia, vascular fragility, skin hyperelasticity
“Cigarette-paper”skin ; subcutaneous nodules
Tall patient : hip hyperextension, genu recurvatum, hyperflexible thumb/wrist
Blue sclera, lop ears, drooped skin folds around eyes, poor dentition, arched palate
Congenital heart disorders; pneumothorax, kidney disease, bowel haemorrhage

Radiologic Features

Platyspondyly
Posterior scalloping
Soft-tissue calcifications (most commonly along tibia or forearms) •
Lordotic thoracic spine, thoracic scoliosis, spondylolisthesis
Resorption of finger tufts if Raynaud’s present
Prone to repetitive dislocations and early DJD

MPS-I-H : Hurler’s Syndrome

(syn : gargoylism, lipochondrodystrophy)

Clinical Features

Excessive lipid accumulation in CNS and viscera
About 1 in 100,000 births
Dermatan sulfate and heparin sulfate in urine
Normal at birth
Gradual development of large head, sunken nose, large lips, protruding tongue, coarsened features
Hydrocephalus
Short malformed teeth; gradual increasing deafness; deteriorating mentation
Cardiomegaly, heart murmurs, hepatosplenomegaly
Umbilical & inguinal hernias
Early cessation of growth (dwarfism)
Severe thoraco-lumbar kyphosis; flexion contractions
Trident hand; life span shortened < 20 years

Radiologic Features

Skull
- macrocephaly, thickened calvarium, premature closure of sagittal and lambdoidal sutures, enlarged sella tursica (“J”-shaped), small facial bones, wide mandibular angle
Spine
- vertebral body hypoplasia, inferiorly beaked vertebrae in thoracolumbar spine, other vertebrae ovoid (convex end-plates), long slender pedicles, odontoid hypoplasia may cause atlanto-axial instability
Appendicular
- paddle ribs, flared ilia, coxa valga, widened diaphysis, elbow deformities, osteoporosis

MPS-IV : Morquio’s Syndrome

(syn : chondrodystrophy)

Clinical Features

About 1 in 100,000 births
Keratosulfaturia (detected at birth)
Two types based on severity : A more severe than B
Skeletal changes appear with weightbearing
Dwarfism (less than 4 feet)
Weak, hypotonic muscles; dorsal kyphoscoliosis
Pectus carinatum, very short neck (“noneck” appearance)
Wide-set eyes, short nose, flattened bridge, wide maxillae, teeth deformed, poorly spaced
Corneal opacities, deafness, normal mentation, genu valgum, flexion contractures
Enlarged wrists, deformed hands
Atlanto-axial dislocations
Life-span 30-40 yrs

Radiologic Features

Platyspondyly with central beaking
Ist &2nd lumbar may be dysplastic and displaced posteriorly
Normal or widened disc spaces
Hypoplastic or absent dens – contraindication to SMT
Unstable hip joints; short thick tubular bones upper extremity
Carpal, tarsal, phalangeal abnormalities

Osteogenesis Imperfecta

(syn : fragile bones)

Clinical Features

Affects skeleton, ligaments, skin, sclera, inner ear and teeth
Abnormal maturation of collagen in all types of bone; possibly caused by deficiency of ATPase
Slight predilection for females
Five types – blue sclera in types I - III
Two forms : congenita (high infant mortality) & tarda (normal life span)

Osteogenesis Imperfecta

Two types of tarda : with bowing of long bones & without (less severe)
Osteoporosis with abnormal skeletal fragility
Blue sclera
Abnormal dentition
Premature otosclerosis
General ligament laxity
Bleeding tendencies
Growth retardation
Kyphoscoliosis
“Saturns rings”- ring of normal white sclera around cornea
bones less fragile with maturity; females seem to remiss after puberty and oestrogen therapy may be helpful
DDx: other osteopenic conditions and child abuse

Radiologic Feature

numerous fractures, with exuberant callus and a poor cellular matrix
bowing deformities, pseudarthroses may follow fracture healing
diffuse osteopenia, pencil-thin cortices
persistent Wormian bones, enlarged sinuses, thin calvarium, platybasia
kyphoscoliosis; vertebrae flattened, anteriorly wedged or biconcave (biconcave lens vertebrae)
protrusio acetabuli, shepherd’s crook deformity
premature DJD

Melorheostosis

Radiologic Features

Classic, streaked, wavy cortical thickening – candle drip or flowing candle wax appearance
Hyperostosis under periosteum along one side of a long bone (classic)
Osteochondroma-like masses extend into joint area
Carpal & tarsal bone reactions similar to osteopoikilosis

Osteopathia Striata

(syn : Voorhoeve’s disease)

Clinical Features

May be variant of osteopoikilosis or osteopetrosis
Usually bilateral involvement of long bones
Usually asymptomatic, incidental finding; negative scintigraphy, normal laboratory tests

Radiologic Features

Vertical linear opacities from metaphysis to diaphysis, occassionally into epiphysis
Longest striations in femur
In ilium – fanlike “sunburst effect”from acetabula to iliac crest
May be thickening and sclerosis of skull base

Osteopoikilosis

(syn : spotted bones)

Radiologic Features

Juxtaarticular small round or ovoid opacities
Epiphyseal & metaphyseal regions affected
Symmetric involvement: predilection for long bones, carpals & tarsals
May occur in ilium adjacent to acetabulum; scapula near glenoid; rarely in spine, ribs, clavicle
Occasionally disappear, reappear or change size. Usually 1-10mm, rarely larger
DDX: blastic metastases,tuberous sclerosis, mastocytosis

Osteopetrosis

(syn : Albers-Schonberg’s disease, marble bone disease)

Clinical Features

No resorption of normal primitive osteochondral tissue : osteoclasts may not respond to parathyroid hormone; primitive calcified cartilage persists.
Results in inhibition of medullary cavity; absence of marrow; anaemia and extra-medullary haematopoiesis (therefore, hepatosplenomegaly)

Four general types

Benign, autosomal dominant heterogeneous form
Severe malignant autosomal recessive form
Intermediate recessive form
Recessive form with tubular acidosis

Severe forms fatal within two years
Severe anaemia, hepatosplenomegaly, lymphoadenopathy, thrombocytopenia, failure to thrive
Brittle dense bones which fracture easily, transverse fractures, quick healing
Skull involvement : optic nerve atrophy with blindness, acoustic nerve compression with deafness, other cranial nerve defects
Leukemia and sarcoma often associated
Benign cases – 50% asymptomatic, others show anaemia, facial palsies, deafness, hepatosplenomegaly
With persistent hip pain, evaluate for ischaemic necrosis
Defective dentition, severe caries may provide route for osteomyelitis

Radiologic Features

Generalised skeletal sclerosis; homogeneous increase in density, absence of trabeculae, medullary cavity.
“Bone within bone”appearance • Flared metaphyses – “Erlenmeyer flask”deformity
Spine – “sandwich vertebra”, lumbar spondylolysis, cervical canal stenosis with myelopathy
Skull – macrocephaly, hydrocephalus, prognathism
Erlenmeyer flask deformity

Progressive Diaphyseal Dysplasia

(syn : Englemann’s disease)

Radiologic Features

Symmetrically distributed long bone fusiform diaphyseal widening, medullary cavity encroached
Bone may also elongate, begins mid shaft, metaphysis spared, usually spares pelvis, carpals, tarsals
Skull : basilar sclerosis, calvarial hyperostosis, exophthalmos in severe cases; occasional involvement of ribs, clavicle and spine
- affecting posterior body and posterior arches, but no stenosis

Pyknodyostosis

Clinical Features

Male 2:1 • Dense fragile bones and dwarfism
Maxillary or mandibular osteomyelitis due to severe dental caries
Sleep apnea due to long uvula and small facial bones
Platybasia
Manipulation contraindicated due to fragility of bone
Usually less than 5 feet tall, beaked nose, small face, prominent forehead, enlarged head, prognathic jaw, high arched palate, stubby hands & feet, finger clubbing, spoon-shaped nails, normal mentation

Radiologic Features

General increase in bone density, preserving medullary cavity, mostly long bones, transverse fractures, stress fractures

Skull

Patent sutures, wide fontanelles, numerous Wormian bones, platybasia, thickened skull base, hypoplastic facial bones & sinuses. Hypoplastic mandible with obtuse mandibular angle; retained deciduous teeth, hypoplastic clavicles, acro-osteolysis • pelvis : shallow, oblique acetabulae, coxa valga

Radius

Madelung’s deformity (bowed, overgrown radius), abnormal radioulnar joints

Spine

Hyperlordosis, scoliosis, kyphosis, block vertebrae (usually at craniocervical & lumbosacral), vertebrae – spool-shaped with persistent anterior infantile notching, C2 spondylolysis, lower lumbar spondylolisthesis