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. 1988 Dec;25(12):854–857. doi: 10.1136/jmg.25.12.854

Is geroderma osteodysplastica underdiagnosed?

A G Hunter 1
PMCID: PMC1051618  PMID: 3236370

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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Selected References

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