Dysplasias Flashcards by Jojo Barnes-Jones

Posterior vertebral body scalloping Ddx

MEN-1
AAA
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STe

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

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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

Achondroplasia

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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 *

Hypochondroplasia

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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

Pseudoachondroplasia

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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

Pseudoachondroplasia

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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

Pseudoachondroplasia

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

These changes represent the pathophysiology of which dysplasia?

Chonrodysplasia punctata

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

asymmetric limb shortening
mental retardation
small distal phalanges.

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

Warfarin toxicity
Anticonvulsant drugs
Coumadin

Note children born to mothers w/ SLE are included

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Hallmark finding for CDP

Stippled epiphysis in the 1st year of life.

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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

CDP Lethal Recessive Type

Y&R, pg. 729.

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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.

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

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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

Brachytelephalangic CDP

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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)

Halberd-shaped pelvis

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

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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.

Metatrophic dwarfism

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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.

Diastrophic dwarfism

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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

Thanatophoric dwarfism

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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.

Chondroectodermal dysplasia

Ellis-van Creveld syndrome

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constricted/narrow chest and may die from pulmonary hypoplasia.

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

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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

Asphyxiating thoracic dysplasia

aka

Jeune syndrome

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

ulnar margin of the hand

Seen in both EVC and Jeune dysplasias

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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.

Asphyxiating thoracic dysplasia

aka

Jeune syndrome

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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

SED Congenita

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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

SED Tarda

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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.

SED Congenita

Rare, lethal form of SED Hypoplastic VBs at TL spine, dens hypoplasia, dec IVD height, L spine MC involved.

Hypochondrogenesis.

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)

CCD | Cleidocranial dysplasia

Dyschondrosteosis (Madelung's deformity) has four types (T, D, G, I) Type I - Type II - Type III - Type IV -

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.

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.

Dyschondrosteosis (Madelung's deformity)

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.

Jansen’s type

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.

Schmid’s type Resnick & Kransdorf

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.

McKusick’s type | Resnick and Kransdorf

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

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.

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,

McKusick type

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

MED aka Fairbanks disease

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

MED aka Fairbanks disease Note: Tibiotalar slant (ddx: hemophilia, JRA).

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 ___ - ___ .

20-40 years old

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.

Hypothyroidism

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.

SED-Tarda

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.

Trevor's disease aka Dysplasia epiphysealis hemimelica

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

Pseudo-madelung deformity seen in Hereditary multiple exostosis aka Osteochondromatosis aka Diaphyseal aclasis

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

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

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

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.

Triphalangeal thumb - Preaxial polydactyly.

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

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.

Hereditary multiple exostosis | Osteochondromatosis or Diaphyseal aclasis

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.

Enchondromatosis aka Ollier's disease

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.

Enchondromatosis w/ cavernous hemangiomas | Maffucci's syndrome

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

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

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.

Mazabraud syndrome

MC form (type) of Osteogenesis Imperfecta

Type 1 Autosomal dominant with variable penetrance. MC form. The majority form of tarda. Varying severity, blue sclera, dentinogenesis imperfecta, premature otosclerosis.

Which type of OI is described Autosomal recessive. Severe neonatal fractures, blue sclera. Most die perinatal period

Type II

Which type of OI is described Autosomal recessive and dominant (sporadic). Deformities and fractures at birth (66%) . Dwarfism associated with this type.

Type III

Which type of OI is described Autosomal dominant. Variable skeletal findings with normal sclerae.

Type IV

Congenita vs. Tarda (Lobstein's disease) Fatal, common skull fractures during birthing process and in utero. Skull is paper thin, death via intracranial hemorrhage.

Congenita

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.

Tarda (Lobstein's disease)

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

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.

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

Osteogenesis Imperfecta

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

OSTEOPETROSIS aka Marble bone disease

AKA Albers-Schonberg severe anemia, hepatomegaly, splenomegaly, thrombocytopenia. Cranial nerve involvement (blindness and deafness), recurrent infections, hemorrhages, leukemia and sarcomas

OSTEOPETROSIS aka Marble bone disease

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.

Osteopoikilosis

Combination of Osteopoikilosis, osteopathia striata and Melorheostosis is called

Mixed Sclerosing Bone Dystrophy

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).

Osteopathia striata (Voorhoeve's disease)

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.

Melorheostosis

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.

Pyknodysostosis

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.

Pachydermoperiostosis aka Primary hypertrophic osteoarthropathy

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.

[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.

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

Metaphyseal dysplasia (Pyle's disease)

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

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

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.

Craniofacial dysostosis (Crouzon’s disease)

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).

Apert syndrome Acrocephalosyndactyly

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.

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

(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.

Diastematomyelia

Segmentation defect: Agenesis or hypoplastic odontoid | Can be diagnosed after what age?

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

MC at L2-L4. MCly postero-inferior L4

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.

Craniofacial dysostosis (Crouzon’s disease)

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

Klippel-Feil syndrome

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

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

The MC type of hemivertebrae

Lateral hemivertebrae Anterior (LC) Posterior(dorsal) 2nd MC

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.

Epiphyseal dysplasias

Isolated epiphyseal abnormality without platyspondyly may be seen in chondrodysplasia punctata group of dysplasias which include 1. 2. 3.

(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

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

Pseudoachondroplasia

Scimitar patella - Stippled calcification about the patella | may be d/t CDP or

Cerebro-hepato-renal syndrome aka Zellwegger syndrome

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

Metatropic dysplasia

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

Chondroectodermal dysplasia | Ellis van-Creveld

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

Chondroectodermal dysplasia | Ellis van-Creveld

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.

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

The following disorders are in the differential for what dysplastic change seen normally in the wrist? Nail patella, Turners, Leri Weill, Dyschondroosteosis

Madelung deformity

Bowing of the radius and foreshortening of the ulna

Pseudo madelung deformity normally seen in Ollier's disease

Differential diagnosis for short 4th or 5th metacarpal

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

Dysplasias Flashcards

(89 cards)