J Med Genet. 1992 Jan;29(1):68-9.

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

Lyonnet S, Schwartz G, Gatin G, de Prost Y, Munnich A, Le Merrer M.

Source

Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-12, Département de Pédiatrie, Hôpital des Enfants-Malades, Paris, France.

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.

PMID:: 1552551; [PubMed - indexed for MEDLINE]
PMCID:: PMC1015828

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Cited by 1 PubMed Central article

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