Atelosteogenesis type I and III

Definition:

Atelosteogenesis encompasses a heterogeneous group of skeletal dysplasias with overlapping phenotypic features that include rhizomelic short limbed dwarfism, thoracic hypoplasia, multiple joint dislocations, talipes equinovarus, and early death. Atelosteogenesis type I (AO1) and type III (AO3) are autosomal dominant disorders caused by mutations in the gene encoding filamin B.

References:

[1]. D Sillence, et al. Atelosteogenesis syndromes: a review, with comments on their pathogenesis. Pediatr Radiol. 1997 May;27(5):388-96. [Content Brief]

[2]. Deborah Krakow, et al. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr;36(4):405-10. [Content Brief]

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