Dysplasias

Question 1

Posterior vertebral body scalloping Ddx

MEN-1
AAA
HH
STe

Answer 1

Marfans
Ehler-danlos
NF type 1
Achondroplasia
Acromegaly
Syringohydromyelia
Hurlers syndrome
Tumor MC’ly ependymoma
Hydrocephalus (fluid pressure erosion)
AS, late stage

Question 2

Abnormal endochondral bone growth
Rhizomelic dwarfism (humerus, femur) 
Bullet-nosed vertebrae
Champagne glass pelvic
Horizontal acetabular roof 
Short femoral necks
Trident hand (short proximal and middle phalanges)
Increased incidence- Madelung deformity 
Horizontal sacrum
Short and thick diaphyses
Brachycephaly
V-shaped distal femoral growth plate.

Complications include:
Small foramen magnum(stenosis)
Hydrocephalus (ventriculoperitoneal shunt)
Spinal stenosis/Decreased interpedicular distance
Trefoil spinal canal on axial imaging

Neurological complications: ataxia, incontinence and depressed respiration. Chiari malformations

Answer 2

Achondroplasia

Question 3

A separate condition that appears in childhood and is similar to achondroplasia but is less severe including small stature, lumbar lordosis, bowlegs, narrow interpediculate distance and posterior VB concavity.

Similar pelvic findings
* Long fibulae and prominent ulnar styloid processes *

Answer 3

Hypochondroplasia

Question 4

Biconvex vertebral bodies w/ an anterior tongue-like appearance seen centrally - Hallmark finding

Delayed ossification: femur heads, troachanters

Sloped acetabulum w/ spiked appearance
Hypoplastic ilia but eventually normalize.
Hip alignment persists (coxa vara).
Hypermobility of all joints except elbow.
Ligamentous laxity
2nd year of life or later.
Autosomal dominant, mutation in COMP gene (similar to MED, but more severe clinical and radiographic)

Mild to moderate scoliosis develops in 50%
Cervical instability d/t dens defect

Neurologic complications 28% → numbness or tingling of the limbs

Answer 4

Pseudoachondroplasia

Question 5

Windswept deformity, abnormal valgus deformity in one knee associated with varus deformity in the other. Commonly seen in young children in certain parts of Africa and belongs to which dysplasia

Answer 5

Pseudoachondroplasia

Question 6

Radiographic study a 3 year old male demonstrates:

hypoplastic capital femoral epiphyses
broad short femoral necks
coxa vara
horizontal acetabular roof and absent epiphyseal centers of os pubis and greater trochanter.

Lesions are bilateral and symmetrical, which is an important distinguishing feature from Perthes disease, which is characteristically asymmetrical and occasionally unilateral

Answer 6

Pseudoachondroplasia

Question 7

Epiphyseal centers undergo mucoid degeneration and hypervascularity is prominent. These factors lead to fragmentation of epiphysis.

These changes represent the pathophysiology of which dysplasia?

Answer 7

Chonrodysplasia punctata

Question 8

The X-linked recessive (rhizomelic) form of CDP predominates in males and is characterized by a triad that consists of

Answer 8

asymmetric limb shortening
mental retardation
small distal phalanges.

Question 9

In sporadic cases of CDP what entities are the most likely etiologies?

Answer 9

Warfarin toxicity
Anticonvulsant drugs
Coumadin

Note children born to mothers w/ SLE are included

Question 10

Hallmark finding for CDP

Answer 10

Stippled epiphysis in the 1st year of life.

Question 11

Recessive or Conradi Hunermann (dominant) CDP type?

Epiphyseal stippling noted primarily in the hips, shoulders, knees, and wrists.
Symmetric shortening of the limbs, particularly proximally and more frequently in the upper extremities.

The metaphyses are often flared, and the long bones are bowed. In most cases there are coronal clefts of the vertebrae, but stippling of the spine is usually absent and spinal deformity is not as severe

Answer 11

CDP Lethal Recessive Type

Y&R, pg. 729.

Question 12

Recessive or Conradi Hunermann (dominant) CDP type?

the stippling at the ends of long bones and in short tubular bones may be mild to severe, with occasional asymmetric limb shortening.

metaphyses and diaphyses are normal.

Answer 12

Conradi Hunermann (dominant) 
Y&R, pg. 729.

Question 13

Stippled epiphyses (proximally ulnar, radius) in a 2 day old male patient w/ hypoplasia of the distal phalanges of the fingers. No skin manifestations (ichthyosis) were present.

These findings are most consistent with which type of CDP

Answer 13

Brachytelephalangic CDP

Question 14

The following description characteristically describe pelvic changes in Metatrophic dwarfism:

• hypoplastic ilia with narrow sacrosciatic notches
• horizontal acetabular roofs with small associated
  notches superior to their lateral borders
• prominent crescentic flaring of iliac wings

(Radiopedia)

Answer 14

Halberd-shaped pelvis

Note, there is also tail like soft tissue fold over the sacrum seen in this dysplasia

Question 15

Short extremities with metaphyseal widening resembling a trumpet or dumbbell (hyperplasia of prox femoral metaphyses)

Large trochanters resembling a battle ax
Delayed appearance of epiphyses.

VB changes → rectangular or diamond shaped, disc spaces are large.

Short ilia, crescent shaped iliac crests, flat acetabular roofs.

Delayed ossification of the carpals and tarsals.
Irregular contours of talus and calcaneus

Cervical spine - platyspondyly, sometimes absent or hypolplasia of the dens.

Thoracic and Lumbar spine - In neonates severe platyspondyly “paper thin vertebrae”, coronal clefts, wide disc spaces.
Diamond shape vb, or a hump superiorly only, and irregular ossification of endplates.

Later in life, platyspondyly w/ anterior wedging
(Spranger, pg. 207)

Diaphyseal constriction and widely flared metaphyses.

Lower position of ASIS than normal.

Answer 15

Metatrophic dwarfism

Question 16

Short-limbed dwarfism accompanied by contractures of many joints, foot deformities, and progressive scoliosis and kyphosis.

Higher incidence in those from Finland.

Pronounced hitchhiker thumb frequent feature and has marked shortening of the first metacarpal

Crescent shaped flattened epiphyses, short and wide metaphyses, short broad metatarsals and metacarpals with inward and downward twisting (diastrophism), clubfoot.

Foot anomalies are seen in 93% of cases including metatarsus valgus, metatarsus adductus, or equinovarus. Femoral head findings similar to severe LCP.

First metacarpal is usually oval shaped and is the most affected.

Carpal bones tend to have accessory ossification centers.

Severe cervical spine kyphosis seen often. Narrowed interpediculate distance has been described and rarely atlantoaxial instability.

Hemorrhagic cystic lesion near ear in newborns.

Answer 16

Diastrophic dwarfism

Question 17

MC lethal type of dwarfism

Severe micromelia and platyspondyly.
Telephone receiver femora (metaphyseal flaring w/ osseous bowing and widening)

Cloverleaf skull seen in both types, I and II more often in II. While Type I is typically telephone reciever femur.

Usually stillborn or die shortly after birth d/t to hypoplastic lungs

Answer 17

Thanatophoric dwarfism

Question 18

dysplastic teeth, short ribs, post-axial polydactyly
cleft palate, fingernail dysplasia (absent or hypoplastic) atrial septal defects, renal abnormalities
capitohamate coalition. extra carpal bones,
cone shaped epiphyses
enlargement of proximal ulna and distal radius (drumstick appearance).

Anterior dislocation of radial heads
Wide and hypoplastic lateral tibial plateau; upper tibial epiphysis displaced too far medially (causing genu valgum), medial tibial diaphyseal exostosis, fibular shortening.

Normal skull and spine. Early death due to cardiac or pulmonary complications.

Answer 18

Chondroectodermal dysplasia

Ellis-van Creveld syndrome

Question 19

constricted/narrow chest and may die from pulmonary hypoplasia.

Answer 19

Asphyxiating thoracic dysplasia
aka Jeune syndrome
aka Thoracic-pelvic-phalangeal dystrophy

Question 20

Survivors die from progressive renal failure, however hepatic fibrosis, pancreatic fibrosis, retinal degeneration, Hirschsprung dz, are often comorbidities in this lethal dysplasia aka thoracic-pelvic-phalangeal dystrophy

Answer 20

Asphyxiating thoracic dysplasia

aka

Jeune syndrome

Question 21

Post-axial polydactyly refers to polydactyly where the additional digit is on the_______ of the hand, or lateral to the 5th toe

Answer 21

ulnar margin of the hand

Seen in both EVC and Jeune dysplasias

Question 22

Short horizontal ribs, with wide and irregular costochondral junctions.

High handlebar shaped clavicles are possible.

Short iliac, pubic, and ischial bones with rounded ilia laterally and flat acetabular roofs with downward oriented spikes, which are most commonly medial and lateral, and occasionally central (if all 3 then called trident acetabulum). With increasing age the pelvis normalizes but the proximal femoral metaphysis progresses with irregularity.

Answer 22

Asphyxiating thoracic dysplasia

aka

Jeune syndrome

Question 23

SED Congenita or SED Tarda

Autosomal recessive, rhizomelic dwarfism
Short trunk, respiratory and visual complications (myopia)

Imaging
Dec height of vb’s, pear-shaped vb in childhood Kyphoscoliosis, accentuated kyphosis and lordosis, Pectus carinatum, delayed ossification w/ resultant epiphyseal irregularities.
Hypoplasia of the odontoid with atlantoaxial instability

Other clinicial assoications: ocular hypertelorism, cleft palate, hearing loss, myopia, retinal detachment

Answer 23

SED Congenita

Question 24

SED Congenita or SED Tarda

Milder, X-linked recessive form seen only in males
Rare lethal form Also termed hypochondrogenesis

Imaging
Heaped-up VB, platyspondyly, disc space narrowing
Shoulder, hip, knee most severely affected
Mimics Legg-Calvé-Perthes disease in hip

Answer 24

SED Tarda

Question 25

Platyspondyly w/ severely reduced intervertebral disc spaces. Radiograph of pelvis shows small femoral epiphyses, horizontal acetabuli and short iliac wings.

This dysplasia has known association with thoracic spine disc herniations in the adult years.

Answer 25

SED Congenita

Question 26

Rare, lethal form of SED

Hypoplastic VBs at TL spine, dens hypoplasia, dec IVD height, L spine MC involved.

Answer 26

Hypochondrogenesis.

Question 27

Faulty intramembranous ossification
Multiple midline defect (skeletal dysraphism)
- multiple SBOs
- pubic diastasis
- cone shaped thorax
- absent/hypoplastic clavicles MCly lacking distal clavicle, - patent metopic suture (hot crossed)

Chef’s hat appearance to the femoral head with lateral notching of the femoral epiphysis.

Hypernumery teeth, otosclerosis, multiple wormian bones. The presence of hypernumery teeth assists in differential with wormian bones

Accessory proximal 2nd metacarpal physis (supernumerary epiphysis)

Parietal bone ossification may not be present at time of birth. Broad mandible with persistent synchondrosis, hypoplastic scapula including the glenoid, and narrow iliac wings. Tapered distal phalanges, cone-shaped epiphyses, and late carpal ossification. (Resnick)

Answer 27

CCD

Cleidocranial dysplasia

Question 28

Dyschondrosteosis (Madelung’s deformity) has four types (T, D, G, I)

 Type I - 

 Type II - 

 Type III - 

 Type IV -

Answer 28

Type I – Traumatic

Type II - Dysplastic
Dyschondrosteosis: Leri-weil, mesomelic shortening of limbs. Female dominant

Type III - Genetic (Turner’s, hypogonadism,
brachymetacarpy, rupture AAA 33% of pregnancy)

Type IV – Idiopathic.

Question 29

Dorsal bowing of the radius, early closure of the medial radial distal physis,
V-shaped carpus and distal radius and ulna.
Distal radioulnar joint diastasis.

Occasionally short bones of the hands and feet. Occasionally tibia vara in combination with a long fibula alters the shape of the talocrural joint.

Answer 29

Dyschondrosteosis (Madelung’s deformity)

Question 30

Which type of Metaphyseal Chondrodysplasia is described below?

rare severe form, marked dwarfism, joint swelling, bowing of the forearms and legs.
Frontal nasal hyperplasia w/ hypertelorism, receding chin.

Metaphyseal irregularity and widened growth plates, osteopenia, zones of irregular metaphyseal calcification. Anterior rib flaring and mild platyspondyly.

Answer 30

Jansen’s type

Question 31

Which type of Metaphyseal Chondrodysplasia is described below?

short stature and bowed legs (first signs), physeal widening with metaphyseal flaring and irregularity (possibly V-shaped defect) MCly at the hips and knees.

Answer 31

Schmid’s type

Resnick & Kransdorf

Question 32

Which type of Metaphyseal Chondrodysplasia is described below?

aka cartilage-hair hypoplasia.

Short stature, fine light colored hair, small hands, bowed legs and joint laxity. Complex immune deficiencies may be present and are cause for increased infections and malignant tumors.

Metaphyseal flaring/cupping, and epiphyseal flattening and are MCly in the lower extremities. Small bones of the hands and feet, and carpal bone irregularity, small VBs, odontoid hypoplasia and atlantoaxial instability.

Answer 32

McKusick’s type

Resnick and Kransdorf

Question 33

Case scenario
Diagnosis and Ddx

Age- 2nd year of life
Cupping, fraying, spraying of the metaphyses, most notably in lower extremities
Coxa vara, short femoral necks, genu varga
Large capital femoral epiphysis until age 9

Answer 33

Schmid type

Ddx
McKusick type, metaphysis of the knee are usually more severly affected, than prox femur. Coxa vara and bow legs are less severe.

Hypochondroplasia, short pedicles and narrow pedicle distance of lumbar vb and no coxa vara.

Hypophosphatasia, tongue like ossification defects extending deep into the shafts of tubular bones. Low serum alk phos, elevated urinary phosphoethanolamine

Jansens type, metaphyseal lesions are more severe.

Question 34

Case scenario for Metaphyseal chondrodysplasia

Short limb (100%)
fine, sparse hair, eyebrows, and lashes (93%)
limited elbow extension (92%)
ligamentous laxity usually with short pudgy hands and feet (58%), recurrent infections in young children (56%)

Age-birth
Labs: Impaired in vitro t-cell function (88%), anemia 979%), Lymphopenia (62%), Neutropenia (27%)

Imaging
Infant-short long tubular bones, curved femora with rounded distal epiphysis, sometimes short ribs and anterior angulation of the sternum.

Child/Adults-short, metaphyseal dysplasia of tubular bones. Metaphyseal changes more severe in the knee than in proximal femur, disproportionate fibula length more so at the distal end,

Answer 34

McKusick type

Question 35

delayed and irregular secondary ossification centers
flattened and squared-off epiphyses
thinning of the lateral tibial epiphysis
double layered patella
hypoplastic tibial and femoral condyles with shallow intercondylar notch

Answer 35

MED aka Fairbanks disease

Question 36

In this dysplasia, 66%of patients have spinal changes similar to Scheuermann’s.

The epiphyses appear in second to third year of life and will appear mottled. There is flaring of the metaphyses and widened growth plate.

Hips, knees and ankles more often involved then shoulders and wrists.

Hypoplastic carpals and tarsals, short and thickened tubular bones of the hands.

50% present with tibiotalar slant

Answer 36

MED aka Fairbanks disease

Note: Tibiotalar slant (ddx: hemophilia, JRA).

Question 37

In MED, epiphyseal ossification appear late and are slow to mineralize. They have a mulberry like appearance since they ossify from multiple centers. There is also thinning of the lateral tibial epiphysis.

SCFE is common, femoral heads are flattened as well as the femoral condyles. Typically, there are hypoplastic tibial and femoral condyles with shallow intercondylar notch.

Degeneration is evident between ___ - ___ .

Answer 37

20-40 years old

Question 38

Pt’s w/ untreated ___________ are short, bone age is stunted(retarded) and one or more of the VBs at the TL junction may be hook-shaped.

Answer 38

Hypothyroidism

Question 39

x-linked recessive. Only in males, becomes evident between 5-10yoa due to spinal changes.

Hump-shaped VBs mostly in the lumbar spine, wide disc space anteriorly and narrow disc space posteriorly.

Odontoid abnormalities, early spinal degeneration, small femoral necks and pelvic bones with coxa vara, increased AP diameter in chest, flattening of the epiphyses of the hips and shoulders, eventual disabling hip degeneration.

Answer 39

SED-Tarda

Question 40

Osteochondroma of the epiphysis, most often more than one bone involved. Up to 70% of cases involve multiple bones of one extremity,

The talus, distal femur, distal tibia and proximal tibia.
Most commonly seen in males
MC symptom is swelling
Pain with ROM.
Medial aspect of the epiphysis is more often involved than lateral.

Often affect muscles, tendons, ligaments and menisci.

Answer 40

Trevor’s disease
aka
Dysplasia epiphysealis hemimelica

Question 41

Bayonet hand deformity with wrist involvement (short ulna and bowed radius). May cause pressure erosions of adjacent bones.

Answer 41

Pseudo-madelung deformity seen in

Hereditary multiple exostosis

aka Osteochondromatosis

aka Diaphyseal aclasis

Question 42

In HME….
Malignant degeneration in up to ___ %, w/ pelvic and shoulder lesions are MC to become malignant.

Chondrosarcoma is MC, however osteosarcoma and fibrosarcoma also occur.
If cartilaginous cap exceeds ____ concern is warranted

Answer 42

Malignant degeneration in up to 25%,
w/ pelvic and shoulder lesions MC to become malignant.

Chondrosarcoma is MC, however osteosarcoma and fibrosarcoma also occur.

If cartilaginous cap exceeds 2cm concern is warranted

Question 43

The most common bones involved in Infantile cortical hyperostosis include

1.
2.
3.

The most common long bone is the ____
When ribs are involved where is the change ?
Clinical triad:

How to distinguish from scurvy or rickets

Answer 43

mandible (80%), ribs and clavicles MC.

Ulna is the MC long bone
Cortical enlargement most commonly of the lateral aspects of the ribs

Clinical triad

1. Hyperirritability
2. Palpable masses overlying affected bones
3. Soft tissue swelling.

Occurs before the age of 6 months which helps distinguish from rickets or scurvy.

Question 44

Triphalangeal thumb - Preaxial polydactyly.

Answer 44

Holt-Oram syndrome aka Cardio-limb syndrome aka Heart-hand syndrome

Question 45

Autosomal dominant. Evident during first decade usually. 66% are familial. Chromosome 8, 11, and 19 affected. Shortening and bowing of the bones with joint restriction.

May be symmetric or asymmetric bilaterally.

Complications: fracture, vascular injury, neurological compromise, bursa formation, malignant transformation.
5% malignant potential.

Answer 45

Hereditary multiple exostosis

Osteochondromatosis or Diaphyseal aclasis

Question 46

Stippled calcification in long tubular bones. Pelvic and shoulder lesions are MC to become malignant in this dysplastic disorder

Lesions are more common in extremities, less commonly in the metatarsals, metacarpals and phalanges.

Some lesions regress, however up to 30% of cases have malignant transformation.

Answer 46

Enchondromatosis aka Ollier’s disease

Question 47

Soft tissue lesions include cavernous or capillary hemangiomas, or less commonly lymphangiomas, epithelioid hemangioendotheliomas. Unilateral in approximately 50%.

MCly affect the metacarpals and phalanges of the hand.

The bone and soft tissue lesions don’t have to occur in the same body regions. Phleboliths occur in the affected soft tissues.

Answer 47

Enchondromatosis w/ cavernous hemangiomas

Maffucci’s syndrome

Question 48

Polyostotic fibrous dysplasia with skin pigmentation (café au lait lesions with coast of Maine appearance) precocious puberty (endocrine disturbances) while occurring almost exclusively in females.

Facial bones – leontiasis ossea, mandible – cherubism, femur – shepherd crook deformity, expansile rib lesions

May demonstrate extrapleural sign on CXR

Answer 48

McCune-Albright

(Resnick and Kransdorf) not always polyostotic or have skin pigmentation but always have sexual precocity or endocrine disturbance.

Question 49

Fibrous dysplasia with intramuscular myxomas.
More common in women, fibrous dysplasia precedes the myxomas which appear between 40-70 yoa.

The myxomas are MCly located in the thigh, buttocks and pelvic muscles with the thigh myxomas accounting for 75% of cases.

On CT myxomas have attenuation btwn fat and water.
On MRI myxomas have signal intensity of fluid with fatty rim and edematous change in adjacent tissues.

Enhancement is often intense and heterogeneous.

Osteosarcoma occasionally occurs and occur mostly in males with polyostotic fibrous dysplasia.

Answer 49

Mazabraud syndrome

Question 50

MC form (type) of Osteogenesis Imperfecta

Answer 50

Type 1

Autosomal dominant with variable penetrance. MC form. The majority form of tarda. Varying severity, blue sclera, dentinogenesis imperfecta, premature otosclerosis.

Question 51

Which type of OI is described

Autosomal recessive. Severe neonatal fractures, blue sclera.

Most die perinatal period

Answer 51

Type II

Question 52

Which type of OI is described

Autosomal recessive and dominant (sporadic). Deformities and fractures at birth (66%) . Dwarfism associated with this type.

Answer 52

Type III

Question 53

Which type of OI is described

Autosomal dominant. Variable skeletal findings with normal sclerae.

Answer 53

Type IV

Question 54

Congenita vs. Tarda (Lobstein’s disease)

Fatal, common skull fractures during birthing process and in utero.

Skull is paper thin, death via intracranial hemorrhage.

Answer 54

Congenita

Question 55

Congenita vs. Tarda (Lobstein’s disease)

Has longer life w/ increased incidence of fractures.
Thin cortices, osteopenia, blue sclerae in 90%.
Blue-gray to yellow-brown opalescent teeth.
Wormian bones, kyphoscoliosis, secondary protrusio acetabuli, shepherds crook deformity, biconcave lens vertebrae.

Answer 55

Tarda (Lobstein’s disease)

Question 56

According to Resnick and Kransdorf

How many of the following major clinical criteria are needed to arrive at a diagnosis of Osteogenesis Imperfecta

• osteoporosis with fragility
• blue sclerae
• dentinogenesis imperfecta
• early otosclerosis

Answer 56

2

Others

Ligamentous laxity, diaphoresis with altered temperature regulation, bruising, constipation, hyperplastic scars, premature vascular calcification, euphoria.

Limbs are involved more than the trunk. Fractures decrease after puberty.
Nerve conduction deafness in 10% w/ tinnitus & vertigo.

Platybasia or tam-o’-shanter skull.

Short thick limbs in II and III.

The most uncommon presentation is those with cystic changes, flared hyperlucent metaphyses and course honeycomb trabeculae.

Question 57

Telescoping fractures, popcorn calcifications at fracture site (scalloped lucent areas with sclerotic rim), and shepherds crook deformity may occur in

Answer 57

Osteogenesis Imperfecta

Question 58

Corticomedullary indistinction, bone within a bone appearance (endobones) occur as a result of retaining embryonic strata (striations).

Erlenmeyer flask deformity, fractures, sandwich vertebrae (endplate sclerosis more prominent in the middle and posterior rather than anterior)

Endplate sclerosis spans the entire length of the endplates and posterior elements and ribs are osteopenic

Answer 58

OSTEOPETROSIS aka Marble bone disease

Question 59

AKA Albers-Schonberg

severe anemia, hepatomegaly, splenomegaly, thrombocytopenia.

Cranial nerve involvement (blindness and deafness), recurrent infections, hemorrhages, leukemia and sarcomas

Answer 59

OSTEOPETROSIS aka Marble bone disease

Question 60

Asymptomatic sclerotic dysplasia, usually seen after the age of 3, cutaneous lesions in 25% and consist of fibrocollagenous infiltration, predisposition to keloid formation, scleroderma-like lesions.

Periarticular ovoid densities, mostly in the epiphyses and metaphyses of tubular bones. Also in the carpus, tarsus, pelvis and scapula.

Rare in ribs, clavicle, spine, and skull. Not evident on a bone scan.

Answer 60

Osteopoikilosis

Question 61

Combination of Osteopoikilosis, osteopathia striata and Melorheostosis is called

Answer 61

Mixed Sclerosing Bone Dystrophy

Question 62

Vertical metaphyseal striations of increased density in long bones. Commonly an incidental finding although high incidence in those with Goltz syndrome.

Bilateral involvement and seen in metaphyses primarily, may extend to diaphysis. Fan like extension from the acetabulum to the iliac crest (sunburst pattern).

Answer 62

Osteopathia striata (Voorhoeve’s disease)

Question 63

Pain is MC symptom.
Joint swelling and decreased ROM more common in adults. Limb shortening, muscular wasting, skin pigmentation. INcreased incidence of AVMs reported.

Monomelic involvement.Can also occur in the skull, facial bones, ribs, and vertebrae. Changes in the scapula and clavicle tend to involve the upper extremity, changes in the pelvis usually extend to the lower extremity. May see foci in the carpus and tarsus may simulate Osteopoikilosis.

In children the deposition is endosteal mainly and in adults the deposition is periosteal.

Evident by the age of 20 in up to 50%.

Soft tissue calcification may lead to joint ankylosis.
May correspond to a single sclerotome.

Answer 63

Melorheostosis

Question 64

Prognathism (obtuse mandible angle) and prominent supraorbital ridge. Persistent cranial sutures, koilonychia, increased bone density with sparing of a medullary space.

Wormian bones common (MC in lambdoid) and hypoplasia of the sinuses and facial bones, , stress fractures, acro-osteolysis, hypoplasia of distal clavicles. Shallow acetabuli, hyperlordosis, kyphosis, Madelung’s deformity , block vertebrae, spool-shaped vertebrae.

Answer 64

Pyknodysostosis

Question 65

Clubbing of the digits of the hands and feet causing convexity of the nails and pawlike appearance. Periarticular osseous proliferation causing enlargement of extremities. Painful swollen joints. Primary only accounts for up to 5% of hypertrophic osteoarthropathy. Thickening of the skin of the face and scalp. Ptosis, furrowed cutaneous tissue. Condition progresses for 10 years before spontaneous arrest. Thickening of tibia, fibular, radius and ulna mostly.

Other involvement includes carpus, tarsus, phalanges, metatarsals and metacarpals, and pelvis. 33% have affected relative, more prominent in African american population.

Epiphyseal involvement and an ill-defined excrescence are specific to primary and distinguishes primary apart from secondary.

Advanced cases demonstrate expansion and sclerosis of diaphyses. May cause acro-osteolysis.

Answer 65

Pachydermoperiostosis

aka Primary hypertrophic osteoarthropathy

Question 66

Bilateral and symmetric dysplasia
MC affects lower extremities, resolves by 30-35,
0-10 presents more commonly in males (Y&R)

Characterized by bilateral fusiform thickening of diaphyses of long bones (endosteal more so than periosteal involvement), fusiform widening of long bones.

MCly the femur, tibia, fibula, radius, ulna, and humerus although other bones along with the skull maybe involved.

If the spine is involved the posterior VB is sclerosed. With skull involvement the cranial nerves and ventricles may be affected.

Answer 66

[Progressive] Diaphyseal dysplasia
(Engelmann’s disease)

rare, autosomal dominant form referred to as
Camurati-Engelmann disease

(Resnick and Kransdorf) bilaterally symmetric dysplasia, cortical thickening, narrow medullary cavity, sclerotic and expanded diaphysis due to endosteal and periosteal growth (more endosteal). MC tibia then femur, humerus, ulna, radius, and bones of the hands and feet. Sclerosis of the skull base is common and encroachment of cranial nerves via intracranial pressure lead to complications. Progression is common but spontaneous regression is possible.

Question 67

Presents in late childhood with bulbous joints of the lower extremity and genu valgum, joint pain, contracture, and muscular weakness. Condition occurs due to failed subperiosteal remodeling in metaphyses.

Erlenmeyer flask deformity, metaphyses predisposed to fracture. Distal femur, proximal and distal tibia, proximal fibula. Hands and feet display metaphyseal flaring. Clavicles, ribs and rami involved commonly.

Hypoplasia of the sinuses, hyperostosis of the calvaria, mandible and increased density of the central vertebral bodies and vertebra plana

When the skull is involved it is termed craniometaphyseal dysplasia

Answer 67

Metaphyseal dysplasia (Pyle’s disease)

Question 68

Craniometaphyseal dysplasia characterized by cranial hyperostosis, _____ deformity, failed _______ of bone.

Answer 68

Craniometaphyseal dysplasia characterized by cranial hyperostosis, facial deformity, failed modeling of bone.

Question 69

Craniosynostosis, exophthalmos, and midface retrusion.
Usually brachycephalic with fusion of the frontal and sagittal sutures, fusion of the lambdoid suture in 80%.

Prominent digital markings in the skull in 90%.

Calcification of stylohyoid ligaments, deviation of the nasal septum, maxilla hypoplasia, prognathic mandible.

Spine affected in 33%, usually a C2-3 fusion.

Answer 69

Craniofacial dysostosis (Crouzon’s disease)

Question 70

suture closure, midface hypoplasia, symmetrical syndactyly (osteocartilaginous) of the hands and feet involving at least the 2nd, 3rd and 4th digits. Simple syndactyly of the 4th and 5th. At birth see a closed coronal suture, midline defect from the glabella to the posterior fontanelle which close within 4 years via islands of ossification which eventually coalesce. Thin calvaria and undermineralized.
Brachycephaly, hypoplastic anterior fossa, ruminant sella, short deviated thumb, triangular proximal phalanx of the great toe, progressive fusion of the tarsals and metatarsals.
Fusion of C5-6 almost always.

Multiple brain anomalies

Note type II is Carpenter syndrome. Both types are associated with craniosynostosis creating clover leaf skull or kleeblattschadel (sagittal, coronal, lambdoid sutures).

Answer 70

Apert syndrome

Acrocephalosyndactyly

Question 71

Antimongoloid slant to the eyes, egg shaped orbits, flat cheekbones (hypoplastic zygomatic arches, maxilla, and paranasal sinuses), small mandible with broad coronoid process and small condylar process, and a broad concave lower surface.

Dysplastic ears, deafness, coloboma, and deficient lashes of the lower eyelids, external auditory canal is occasionally absent and a poorly formed middle ear including abnormal ossicles.

Answer 71

Mandibulofacial dysostosis

(Treacher-Collins syndrome)

Teber et al. (2004) (6) defined the downward slanting palpebral fissures and the hypoplasia of the zygomatic archs as the minimal features for the diagnosis of TCS

Question 72

(Yochum and Rowe) MC thoracolumbar region. Tethered cord may ensue. Hairy lumbar patch (fawn’s beard) may be present, asymmetric LE’s. Osseous or fibrous bar running the sagittal dimension of the canal. Widening of the interpediculate distance is common. Associated findings include hemivertebrae, SBO, and scoliosis.

(Resnick and Kransdorf) aka split spinal cord malformation. Up to 80% demonstrate skin changes.
Tethered cord is a low conus with a tight filum terminale.

Answer 72

Diastematomyelia

Question 73

Segmentation defect: Agenesis or hypoplastic odontoid

Can be diagnosed after what age?

Answer 73

2

Question 74

Anterior limbus bone occurs when the nuclear material herniates under the ring apophysis (MC at L __- L __).

Posterior limbus bones MCly postero-inferior L __.

Answer 74

MC at L2-L4.

MCly postero-inferior L4

Question 75

Craniosynostosis, exophthalmos, and midface retrusion.
Usually brachycephalic with fusion of the frontal and sagittal sutures, fusion of the lambdoid suture occurs in 80%.

Prominent digital markings in the skull in 90%.

Calcification of stylohyoid ligaments, deviation of the nasal septum, maxilla hypoplasia, prognathic mandible.

Spine affected in 33%, usually a C2-3 fusion.

Answer 75

Craniofacial dysostosis (Crouzon’s disease)

Question 76

Multiple congenital block vertebra
Sprengel’s in 20%
Omovertebral bone, SBOs, Occipitalization
Genitourinary and cardiac complications

Answer 76

Klippel-Feil syndrome

Question 77

Butterfly vertebrae most commonly affect what two levels in the spine?

Answer 77

Thoracic and Lumbar

Concurrent anomalies may include KFS, VATER, hemivertebrae, block vertebrae and diastomatomyelia.
May have cardiac, renal, neurological, and lung involvement.

Question 78

The MC type of hemivertebrae

Answer 78

Lateral hemivertebrae

Anterior (LC)
Posterior(dorsal) 2nd MC

Question 79

All dysplasias in this group have common radiological findings of abnormal epiphyses and epiphyseal irregularity leading to early osteoarthritis and deformities like coxa vara and genu valga. In addition, there is secondary metaphyseal flaring and irregularity due to epiphyseal abnormality.

Answer 79

Epiphyseal dysplasias

Question 80

Isolated epiphyseal abnormality without platyspondyly may be seen in chondrodysplasia punctata group of dysplasias which include

1.
2.
3.

Answer 80

(CHS, RCDP, BTP)
Stippling epiphyseis within 1st year of life - Hallmark XR

Conradi Hunermann syndrome: autosomal dominant, normal mental status, normal life expectancy. Symmetric limbs no metaphseal or diaphyseal involvement.

Rhizomelic-CDP: x-linked recessive, fatal; especially in males, coronal cleft VB. Stippling is common in hips, shoulders, knees and wrist
Triad: “SAM”
Small distal phalanges
Asymmetric limb shortening: U/E > L/E
Mental retardation

Brachytelephalngic CDP: mild mental retardation, stippling epiphyses, distal phalangeal hypoplasia

Question 81

Beaking of medial tibia is a characteristic finding that may present in patients with

Answer 81

Pseudoachondroplasia

Question 82

Scimitar patella - Stippled calcification about the patella

may be d/t CDP or

Answer 82

Cerebro-hepato-renal syndrome

aka Zellwegger syndrome

Question 83

Name the dysplasia

short diaphyses with wide ‘mushroom’ shape metaphyses (dumbbell shape)’

halberd-shaped pelvis

• hypoplastic ilia with narrow sacrosciatic notches
• horizontal acetabular roofs w/ small ss notches
• prominent flaring of crescentic iliac wings

delayed ischiopubic mineralization

kyphoscoliosis

severe platyspondyly

thin dense vertebral bodies

Answer 83

Metatropic dysplasia

Question 84

Name the dysplasia

wide and hypoplastic lateral tibial plateau

upper tibial epiphysis displaced too far medially (causing genu valgum)

medial tibial diaphyseal` exostosis, fibular shortening

Answer 84

Chondroectodermal dysplasia

Ellis van-Creveld

Question 85

Multiple radiographs of patient with _______________ show mesomelia, polydactyly on ulnar aspect with fused metacarpals, cardiomegaly with right side enlargement due to atrial septal defect

Answer 85

Chondroectodermal dysplasia

Ellis van-Creveld

Question 86

Skeletal dysplasia characterized by mesomelic limb shortening, short and broad forearms due to unusual curvature of the radius,and Madelung deformity of the wrist.
Genu valgum is also common
Stature is reduced to between 137 and 152 cm.

Radiographs reveal bowing of the radius and ulna, whose distal ends form a “V-shaped” configuration between which the carpals are wedged.
The ulnar styloid is usually posteriorly dislocated.

In the lower limbs, the tibia and fibula are short with the fibula more frequently affected.

Answer 86

Leri-Weill dyschondroosteosis syndrome

Madelung deformity is caused by epiphyseal growth plate disturbance at the ulnar side of distal radius, resulting in a short radius compared with the ulna.

The growth plate injury may be vascular, infectious, traumatic or muscular.

Syndromes like Nail-patella, Turner, Leri-Weill, Madelung dyschondrosteosis, and others maybe associated with the deformity.

Treatment options are mainly surgical: radial/ulnar eiphysiodesis or corrective osteotomies and vicker ligament release

Question 87

The following disorders are in the differential for what dysplastic change seen normally in the wrist?

Nail patella, Turners, Leri Weill, Dyschondroosteosis

Answer 87

Madelung deformity

Question 88

Bowing of the radius and foreshortening of the ulna

Answer 88

Pseudo madelung deformity normally seen in Ollier’s disease

Question 89

Differential diagnosis for short 4th or 5th metacarpal

Answer 89

Idiopathic

Post-infective (e.g. osteomyelitis, yaws, tuberculosis dactylitis)

Pseudohypoparathyroidism/pseudopseudohypoparathyroidism

Post-traumatic (acute or chronic/healed and particularly those involving growth plate)

Turner syndrome