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Case Reports
. 1996 Oct;33(10):884-6.
doi: 10.1136/jmg.33.10.884.

Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome)

R Mingarelli  1 , A Castriota Scanderbeg, B Dallapiccola
Affiliations
Case Reports

Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome)

R Mingarelli et al. J Med Genet. 1996 Oct.

Abstract

Two adult sisters are described who had a unique association of facial, ocular, and skeletal defects, and abdominal muscle hypoplasia, indicating autosomal recessive inheritance. Many of these features overlap those previously found in other malformation syndromes. However, the constellation of defects observed in these patients appears to represent a previously unreported syndrome and autosomal recessive inheritance is likely.

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References

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