Dysplasias Flashcards
Metatrophic Dwarfism
- short extremities + normal elongated trunk at birth
- small tail-like soft tissue fold over sacrum
- with marked metaphyseal widening (trumpet/dumbbell shape), large trochanters (especially lesser) battleaxe appearance*
- Presence of a clover leaf skull
Diastrophic Dwarphism
- “Twisted”, “crooked”
- disproportionate shortening of ulna and fibula which is opposite of achondroplasia
- thumbs and great toes are held in hitchhiker’s position, deformed earlobes because of cystic masses
- equinovarus deformity, M/C foot deformity = valgus hindfoot and metatarsus adduction
- +/- Calcification of pinna of ear and airway cartilage
Thanatophoric Dwarfism
- “Death bearing dysplasia”
- numerous skin folds like the Michelin man
- telephone receiver-like femora, flattened VB’s with central constriction giving it an inverted U or H shape on frontals
- clover-leaf skull
Chondroecotodermal dysplasia
Ellis-van Creveld syndrome
commonly due to inbreeding
- Shortened tubular bones (especially phalanges), postaxial (ulnar) polydactyly (especially in hands), carpal fusion, extra carpals, cone-shaped epiphyses, enlarged (drumstick) proximal radius and ulna, anterior dislocation of radial heads, wide hypoplastic lateral proximal tibia, medial tibial diaphyseal exostoses
Spondyloepiphyseal dysplasia congenital
- pear-shaped VB’s in infancy, platyspondyly in adulthood
- Broad bell-shaped chest with decreased vertical height
Cleidocranial dysplasia
- poorly formed and supernumerary teeth, frequent caries and periodontitis
- multiple wormian bones (M/C in lambdoid suture)
- persistent metopic suture, widening of coronal and sagittal sutures hot cross bun appearance, midline defect at symphysis pubis (rami fail to approximate)
- lateral notching of femoral capital epiphysis
- accessory epiphyses at base of 2nd metacarpal elongated digit
- Complications – hearing loss, severe dental problems, dislocations of hip/shoulders
Mild mesomelic limb shortening with Madelung’s deformity?
Dyschondrosteosis (a.k.a. Léri-Weill syndrome)
Name 4 types of Metaphyseal chondrodysplasia
Jansen type - Is a rare but severe type
Schmid type - The abnormalities in this condition may be confused with the skeletal changes of child abuse.
McKusick type - also called cartilage-hair hypoplasia (fine light colored hair)
Schwachman-Diamond type - associated with exocrine pancreas insuffiency which leads to malabsorption
Multiple epiphyseal dysplasia AKAs?
Fairbank’s disease, Fairbank-Ribbing disease, dysplasia epiphysealis multiplex
Multiple epiphyseal dysplasia findings?
- delayed ossification of epiphyses and secondary growth centers, appear fragmented or mulberry-like once ossification begins.
- Double patellae
- Spine – looks like Scheuermann’s
- V-shaped wrist deformity
Spondyloepiphyseal dysplasia tarda?
- hump-shaped or heaping-up VB’s due to hyperostotic bone at posterior 2/3 of VB
- hypoplasia of dens
- Manifests between 5-10 yoa, males only
- X-linked recessive condition.
METACHONDROMATOSIS?
autosomal dominant, HME + Ollier’s with prominent marginal calcifications of enchondromas and exostoses that point towards growth plate
Eyes toward heaven?
skin of lower eyelids retracted due to swelling of cheeks in Cherubism
Tumor associated with NF?
20% of pts with pheochromocytoma have NF, 1% of NF pts have pheos
spool-shaped vertebra?
Pyknodysostosis
