Autoszomális domináns
Caused by gain-of-function changes in one copy of FLNB, which encodes filamin B, a protein that shapes the cell skeleton during bone development. The disorder can be inherited from a parent or arise de novo.
Tünetek és jelek
In Larsen syndrome, dislocations of the hips, knees and elbows from birth, clubfoot, a flat face with prominent forehead and widely spaced eyes, and spatulate thumbs are typical. Spinal anomalies, including instability of the neck, can occur. At the severe end (atelosteogenesis types I and III, boomerang dysplasia) there is severe limb shortening and breathing difficulty that is often lethal around birth.
Mit változtat a diagnózis
Orthopaedic management of dislocations and clubfoot, and imaging of the neck spine, especially before anaesthesia, because of possible instability. Hearing and airway review are useful. Genetic counselling covers the 50% chance of passing the change on and testing parents when the change appears new.
4 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- atelosteogenesis type I
- atelosteogenesis type III
- Boomerang dysplasia
- Larsen syndrome
