| A perinatally lethal skeletal dysplasia with manifestations of severe short-limbed dwarfism, joint dislocations, clubfeet along with distinctive facies and radiographic findings. Affected neonates are stillborn or die rapidly after birth. Craniofacial dysmorphism has characteristics of prominent forehead, hypertelorism, a depressed nasal bridge with a grooved tip, micrognathia and frequently a cleft palate. There is a continuum with overlapping clinical findings between atelosteogenesis I, atelosteogenesis III and boomerang dysplasia. This disease results from heterozygous mutations in exons 2-5 and 27-33 of the gene encoding filamin B (FLNB) located to 3p14. |
