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Case Reports
. 1992 Jan;29(1):68-9.
doi: 10.1136/jmg.29.1.68.

Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?

S Lyonnet  1 , G Schwartz, G Gatin, Y de Prost, A Munnich, M Le Merrer
Affiliations
Case Reports

Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?

S Lyonnet et al. J Med Genet. 1992 Jan.

Abstract

The Dubowitz syndrome is a rare autosomal recessive multiple congenital anomaly/mental retardation syndrome. We report here a case of a young adult presenting with several features consistent with this diagnosis. The differential diagnosis is discussed with respect to the absence of microcephaly and intrauterine growth retardation.

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References

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