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Case Reports
. 1988 Dec;25(12):854-7.
doi: 10.1136/jmg.25.12.854.

Is geroderma osteodysplastica underdiagnosed?

A G Hunter  1
Affiliations
Case Reports

Is geroderma osteodysplastica underdiagnosed?

A G Hunter. J Med Genet. 1988 Dec.

Abstract

A girl with mild geroderma osteodysplastica is reported in order to raise the profile of this autosomal recessive condition which may be underdiagnosed. The important signs of this syndrome include a droopy, jowly face with a degree of malar hypoplasia and mandibular prognathism, lax, but non-hyperelastic skin, most marked over the extremities, and osteoporosis which may be associated with fractures and vertebral collapse.

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References

    1. J Genet Hum. 1969 May;17(1):137-78 - PubMed
    1. Hum Genet. 1978 Feb 16;40(3):311-24 - PubMed
    1. J Med Genet. 1987 Sep;24(9):556-61 - PubMed
    1. Am J Dis Child. 1983 May;137(5):452-4 - PubMed
    1. Am J Med Genet. 1979;3(4):389-95 - PubMed

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