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 1. Benign, autosomal dominant heterogeneous form 2. Severe malignant autosomal recessive form 3. Intermediate recessive form 4. 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