Syndromes Flashcards
Low hairline, webbed neck, failed cervical segmentation
Klippel-Feil Syndrome
Rugger jersey spine, erlenmeyer flask deformity of distal femur/humerus, marble bone
Osteopetrosis; defective osteoclast carbonic anhydrase
Anteromedial tibial bowing
Fibular hemimelia
Anterolateral tibial bowing
Congenital pseudarthrosis of tibia; Neurofibromatosis
Undescended scapula
Sprengel’s Deformity (scoliosis, Klippel-Feil)
Ligamentous hyperlaxity, cervical kyphosis, abnormal facial features, multiple joint dislocations
Larsen’s syndrome
Hitchhiker thumb, cauliflower ear, short limbs
Diastrophic dysplasia (AR, sulfate transporter)
Dwarfism, retinal detachment, dumbbell femora
Kniest syndrome (AD, type 2 collagen)
Dwarfism, hypoplasia of odontoid
Morquio syndrome (AR, mucopolysaccharidosis, accumulation of keratan sulfate)
Wide set eyes, syndactyly, craniosynostosis
Apert syndrome; FGFR-2
Syndrome with multiple enchondromas only
Ollier’s disease; (PTHrP, Indian hedgehog proteins), 30% risk of malignant transformation
Multiple enchondromas and hemangiomas, calcified phleboliths
Maffucci’s syndrome, sporadic inheritance, 100% risk of malignant transformation
Posteromedial tibial bowing
Physiologic; associated with calcaneovalgus foot deformity
Congenital digit aplasia and syndactyly, absent chest wall musculature
Poland syndrome
Vaughn-Jackson Syndrome
Rupture of hand digital extensor tendons (ulnar to medial) in RA
Mannerfelt Syndrome
Rupture of FPL in carpal tunnel (over STT osteophytes) in RA
Absent radius, hypoplastic thumb, cardiac abnormalities
Holt-Oram syndrome
Most important factor for treatment of hypoplastic thumb
CMC joint stability
Orthopedic manifestations of CMT (3)
Cavus foot (weak TA and PB), acetabular dysplasia, scoliosis
EOG is associated w which syndrome
Hand Schuler Christian disease
Increased urine phosphoethanolamine is diagnostic for
Hypophosphatasia (AR, TNSALP mutation)
