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Review
. 1998 Jan;35(1):49-53.
doi: 10.1136/jmg.35.1.49.

Atelosteogenesis type 2

R Newbury-Ecob  1
Affiliations
Review

Atelosteogenesis type 2

R Newbury-Ecob. J Med Genet. 1998 Jan.

Abstract

Atelosteogenesis type 2 (AO2) (MIM 256050) is a neonatally lethal chondrodysplasia characterised by severe limb shortening and deficient ossification of parts of the skeleton. Other features include facial dysmorphism, cleft palate, talipes, and abducted thumbs and toes. Phenotypic overlap with non-lethal diastrophic dysplasia (DTD) suggested a common aetiology and it has recently been confirmed that both syndromes result from mutations in the DTDST (diastrophic dysplasia sulphate transporter) gene.

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References

    1. Arch Fr Pediatr. 1972 Aug-Sep;29(7):759-70 - PubMed
    1. Am J Med Genet. 1983 Aug;15(4):615-25 - PubMed
    1. Pediatr Radiol. 1981 Feb;10(3):155-60 - PubMed
    1. Am J Med Genet. 1982 Sep;13(1):15-25 - PubMed
    1. Skeletal Radiol. 1985;13(4):271-5 - PubMed