CONGENITAL DISORDER Flashcards
TYPES OF DYSPLASIAS
• Most dysplasias are ________
– Evident at birth or during childhood
• Some dysplasias begin at birth, but do not become evident until adulthood
congenital
DYSPLASIA =The enlargement of an organ or tissue by the proliferation of cells of an abnormal type, as a developmental disorder or an early stage in the development of cancer.
TYPES OF DYSPLASIAS X 6
1 • Abnormal \_\_\_\_\_\_\_\_\_\_\_\_ development – Achondroplasia 2 • Abnormal \_\_\_\_\_\_\_\_\_\_\_\_ development – Cleidocranial dysplasia 3 • Abnormal \_\_\_\_\_\_\_\_ formation – Marfan’s syndrome – Osteogenesis imperfecta 4 • \_\_\_\_\_\_\_\_\_ \_\_\_\_\_\_ dysplasias – Osteopoikilosis – Osteopathia striata – Osteopetrosis – Melorheostosis 5 • Disorders of HISTOGENESIS – Neurofibromatosis 6 • MISCellaneous disorder – Klippel‐Feil syndrome
enchondral
membranous
collagen
Sclerosing bone
TYPES OF DYSPLASIAS X 6
1—ABNORMAL ENCHONDRAL
DEVELOPMENT—————– ACHONDROPLASIA——–
• Etiology
– most common form of dwarfism
– autosomal dominant disturbance in growth and maturity of cartilage based bone
– ___-_____% due to new genetic mutations
• Clinical – recognizable from birth – rhizomelic limb shortening – UPPER extremity more severely affected – “large” cranium with prominent forehead and flat nasal bridge – waddling gait – protuberant abdomen and buttocks
Radiographic findings‐ axial – small foramen magnum • hydrocephalus – “\_\_\_\_\_\_\_ \_\_\_\_\_\_\_\_” at T/L junction • acute kyphosis – increase \_\_\_\_\_\_\_ \_\_\_\_\_\_\_\_\_ – horizontal sacrum
80‐90
bullet vertebra
lumbar lordosis
TYPES OF DYSPLASIAS X 6
1—ABNORMAL ENCHONDRAL
DEVELOPMENT—————– ACHONDROPLASIA——–
Radiographic findings‐ axial
– short, thick pedicles; decreasing interpedicular distance caudally
• canal stenosis
– POSTERIOR vertebral body _________
– shallow _________, ________ femoral heads
• early arthritis
– CHAMPAGNE glass pelvis
scalloping
acetabulum
dysplastic
TYPES OF DYSPLASIAS X 6
1—ABNORMAL ENCHONDRAL
DEVELOPMENT—————– ACHONDROPLASIA——–
Radiographic findings‐ appendicular
– rhizomelic limb shortening (esp. ________)
– TRIDENT hands
– tubular bones appear widened, but are NOT!
humerus
TYPES OF DYSPLASIAS X 6
2–ABNORMAL MEMBRANOUS DEVELOPMENT:
CLEIDOCRANIAL DYSPLASIA
Etiology
– Uncommon
– Autosomal dominant abnormality primarily of intramembranous BONE FORMATION
Clinical‐ highly variable – typically, LARGE head and SMALL face – shoulders can be approximated – drooping shoulders – gait abnormalities – dentition abnormalities (caries)
Radiographic findings‐ AXIAL – multiple \_\_\_\_\_\_\_\_\_ \_\_\_\_\_\_\_ – delayed closure of \_\_\_\_\_\_\_\_\_\_ – delayed and defective dentition – midline spinal defects – wide \_\_\_\_\_\_\_\_ due to delayed ossification – NARROW thorax
Radiographic findings‐ APPENDICULAR – constant but variable HYPOPLASIA or absence (10%) of clavicles – hip dysplasia – HYPOplastic TUFTS – supernumerary epiphyses – osteoporosis
wormian bones
fontanelles
symphysis
TYPES OF DYSPLASIAS X 6
3–ABNORMAL COLLAGEN FORMATION:
MARFAN’S SYNDROME
Etiology
– autosomal dominant abnormality with wide variability
– represents a generalized abnormality of connective tissues (type __ ________)
– look for __________ involvement
Clinical – \_\_\_\_\_\_\_\_\_\_\_ (thumb sign) – muscle hypoplasia – decreased subcutaneous tissues – ligamentous laxity • dislocations – genu recurvatum, pes planus – \_\_\_\_\_\_\_\_\_ (>50%) – normal mentation – congenital heart disease (ASD, floppyvalves m.c.) – medial necrosis • dissecting aneurysms of ascending aorta –\_\_\_\_ \_\_\_\_\_\_\_\_\_\_\_(>50%) – poor dentition
1 collagen
familial
arachnodactyly
scoliosis
lens dislocations
TYPES OF DYSPLASIAS X 6
3–ABNORMAL COLLAGEN FORMATION:
MARFAN’S SYNDROME
Radiographic findings‐ AXIAL
– may see INCREASED ADI – scoliosis – \_\_\_\_\_\_\_\_\_\_ vertebral body scalloping – protrusio acetabuli – pectus excavatum
Radiographic findings --APPENDICULAR – long, thin extremities, esp. HANDS AND FEET – osteoporosis (uncommon) – dislocations, subluxation – pes planus
**Similar Conditions
A– _____-_______ Syndrome
• hyperelasticity
B–– _____________
•Marfan’s with osteoporosis and decreased mentation
POSTERIOR
Ehlers‐Danlos
Homocystinuria
TYPES OF DYSPLASIAS X 6
3–ABNORMAL COLLAGEN FORMATION:
= OSTEOGENESIS IMPERFECTA
S 35
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