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
Pachydermoperiostosis
M/C and more severe in males, predilection for blacks, M/C onset in adolescnece
- Insidious onset of digital clubbing (hands look like paws), soft tissue thickening of legs and forearms, thickening and greasiness of skin (especially of face),
periostitis - Diaphyseal with metaphyseal and epiphyseal extension
Findings in Crouzon’s? (craniofacial dysostosis)
craniosynostosis, exopthalmosis, midface retrusion
hypoplastic maxilla prognathic appearing mandible
Madibulofacial dysostosis (Treacher-Collins syndrome)?
antimongoloid slant to eyes
marked hypoplasia of zygomatic arches, maxilla, and paranasal sinuses, hypoplasia of mandible with concavity on its inferior aspect, egg-shaped orbits, external acoustic meatus may be absent, ear ossicles may be abnormal
gene encoding what is abnormal in Marfans?
fibrillin (found in periosteum, suspensory ligament of lens, tunica media of aorta)
Homocystinuria is due to an Inborn error of metabolism for what?
methionine
Most severe MPS?
Hurlers
death in 1st decade due to Heart failure or respiratory complications
mental retardation
Who gets Hunter’s?
- X-linked recessive disorder, is differentiated from MPS 1 by only occuring in males
Hand feature seen in many of the MPS’s?
Proximal tapering of metacarpals
Dog vertebrae?
Munchmeyer’s (Myositis ossificans progressiva)
Foot finding seen in 75% of MOP patients?
short 1st toes bilaterally, also their family members may have this
what collagen is abnormal in OI?
Type 1
OI classification name?
Sillence
4 types, type 1 is MC
unique lower extremity finding in Turner’s?
beaking/exostoses of medial proximal tibia
skeletal findings in Basal cell nevus syndrome?
odontogenic keratocysts
50% shortened metacarpals (esp. 4th and 5th)
Flame-shaped cystic lucencies in phalanges
common findings in Holt-Oram?
– M/C patent atrial septum
triphalangeal thumb, aplasia of thumb, preaxial (on radial side) polydactyly
hypoplasia/absent radial head (, hypoplasia/aplasia of radius (radial ray deficiency) )
