We report on an 11-year-old boy with thoracolumbar fusion, carpal synostosis, short stature, scoliosis, lordosis, defective dentition, and recurrent otitis media consistent
In AO3 recurrent respiratory insufficiency and/or infections usually result in early death. Defects in FLNB are the cause of boomerang dysplasia (BOOMD) [MIM:112310].
A review by Coelhoet al.  summarizes the most consistent clinicalmanifestations, including short trunk, flat feet, deaf-ness, hypertelorism, mildly dysmorphic face,