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

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.

• Authors: S Lyonnet, G Schwartz, G Gatin, Y de Prost, A Munnich, M Le Merrer
• Journal: Journal of medical genetics (J Med Genet) Vol. 29 Issue 1 Pg. 68-9 (Jan 1992) ISSN: 0022-2593 [Print] England
• PMID: 1552551 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Adult
• Blepharophimosis (genetics)
• Eczema (genetics)
• Genes, Recessive
• Growth Disorders (genetics)
• Humans
• Intellectual Disability (genetics)
• Male
• Syndrome