Congenital Flashcards Preview

Diagnostic Imaging Interpretation > Congenital > Flashcards

Flashcards in Congenital Deck (61)
Loading flashcards...
1

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

2

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

3

Agenesis Pedicle

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

4

Agenesis Articular Process

5

Hemivertebra

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

6

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

7

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

8

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

9

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

10

Ossiculum Terminale

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

11

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

12

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

13

SBO C1 (Spondyloschisis)

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

14

Clasp-knife deformity

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

15

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

16

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)

17

Normal Ring Epiphysis

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

18

Persistent Apophysis

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

19

Os Acromiale

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

20

Os Acetabuli

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

21

Bipartite/Tripartite Patella

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

22

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

23

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

24

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

25

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

26

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

27

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

28

Syndactyly

29

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

30

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

31

Nuchal Bone

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

32

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

33

Supracondylar Process

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

34

Positive Ulnar Variance

35

Polydactyly

36

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

37

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

38

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

39

Venous Channels of Hahn

  • Persistent venous channels of no significance

40

Paraglenoid Sulci

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

41

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

42

Sprengel’s Deformity

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

43

Omovertebral Bone

  • Extra bone between the cervical spine and the scapula

44

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

45

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

46

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

47

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

48

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

49

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

 

50

Metaphyseal Dysplasia

Clinical Features

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

Radiologic Features

  • Erlenmeyer flask deformity, especially lower limb
  • Platyspondyly

51

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

52

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

53

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

54

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

55

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

56

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

57

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

58

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

59

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

60

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

61

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