All Flashcards
Neurofibromatosis
AD. Ch17. Neurofibromin gene
MHE
EXT1 (worst), EXT2, EXT3 (best).
Autosomal dominant
Fibrous dysplasia’s
Gs alpha subunit of G protein coupled receptor
Increase cAMP
McCune Albright - precocious puberty, cafe au lait
Mazabraud - Intramuscular myxomas
Cleidocranial dysplasia
RUNX2/CBFA-1 - no clavicles
MED/SED
MED - AD - COMP/Type 9 collagen / matrillin 3
SED - COL2A1
Achondroplasia
AD Ch4, FGFR-3, increased tyrosine kinase activity in proliferative zone, inhibits chondrocyte proliferation and maturation
Aperts and other craniosynostoses
FGFR-2, usually AD
Dysmorphic face, complex syndactyly
Rosebud hand - index/middle/ring share common nail
Diastrophic dysplasia
DTDST, AR, Ch5
Dwarf, hitchhikers thumb, cauliflower ear, cervical kyphosis
Gauchers
AR, glucocerebrosidase deficiency
Sphingolipid accumulation
- marrow replacement (anaemia, infection, coagulopathy)
- brain - seizures and developmental delay
- bone pain and bone crisis
Olliers and Maffuci
IDH-1
Sporadic only
Olliers also: PTHrP and Indian hedgehog gene
Note maffuci also has soft tissue angiomas and increased visceral malignancies
Osteopetrosis
CLCN7 - chloride channel - Carbonic anhydrase dysfunction
Osteopoikiliosis
AD, LEMD3, negative bone scan and no followup
Friedreich ataxia
AR, Ch9 GAA repeat
Frataxin gene absence for diagnosis
Ataxia, areflexia, babinski
- also scoli and cavovarus feet
Retts
XD - Xp28
MECP2
Present in females only >6-18M then progresses rapidly until 3Y then slower until 10Y
- apraxia, learning difficulties, seizures, scoliosis (C-shaped), abnormal breathing
Familial hypophosphatemic rickets / Vit D resistant
XD - PHEX mutant; proximal tubules unable to reabsorb phosphate
Over expression of FGFR-23 leads to 1) reduced phosphate reabsorption 2) reduced calcitriol production
Hypophosphatasia
AR - TNSALP (tissue non-specific isoenzyme of ALP)
Urinary phosphoetholamide also diagnostic
CD31/34
Angiosarcoma
- Also polyvinyl chloride exposure
Haemangiomas
CD20/45
Bone lymphoma
CD138
Myeloma
Larsens
AD (Filamin 3 mutant)
AR (carbohydrate sulfotransferase 3 deficiency)
Joint dislocations - hip, radial head, shoulder
Cervical hypoplasia - kyphosis and myelopathy
Flattened nasal bridge and hypertelorism
Club foot gene
PITX1
Nail Patella syndrome
LIM homeobox transcription factor 1 beta
Small/absent/dislocated patella
Dysplatic nails
Ileac horns
Elbow deformity
Fascioscapulohumeral muscular dystrophy
Ch 4 D4Z4 deletion leading to lack of Double homeobox 4 (DUX4) suppression
Type 1 - Ch4 associated
Type 2 - Ch4 not associated
Infantile
Winging
Can’t whistle
Can’t close eyes fully
Face, scapula and shoulder weakness
Scapulothoracic fusion to be considered
Stone man syndrome
Activin receptor type 1 mutant (ACVR1)
Fibrous dysplasia ossificans progressiva
HO+ monophalangeal hallux Valgus bilaterally
