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Dubowitz syndrome in a boy without developmental delay: Further evidence for phenotypic variability

✍ Scribed by Wallerstein, Robert; Kacmar, Jennifer; Anderson, Carol E.; Jackson, Laird

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 130 KB
Volume: 68
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970120)68:2<216::aid-ajmg18>3.0.co;2-x

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✦ Synopsis

Dubowitz syndrome is an autosomal recessive condition characterized by pre-and postnatal growth retardation, eczema, telecanthus, epicanthal folds, blepharophimosis, ptosis, and broadening of the bridge and tip of the nose. The initial patients described had varying degrees of mental retardation and there is little information about long-term developmental outcome. We present a boy with Dubowitz syndrome who does not have developmental delays, providing additional evidence that the phenotype includes normal neurodevelopmental status.

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