Wallerstein R, Kacmar J, Anderson C E, Jackson L
Division of Medical Genetics, Jefferson Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Am J Med Genet. 1997 Jan 20;68(2):216-8.
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.
杜波维茨综合征是一种常染色体隐性疾病，其特征为出生前后生长发育迟缓、湿疹、内眦间距增宽、内眦赘皮、睑裂狭小、上睑下垂以及鼻梁和鼻尖变宽。最初描述的患者有不同程度的智力发育迟缓，关于长期发育结果的信息很少。我们报告了一名患有杜波维茨综合征但没有发育迟缓的男孩，这为该综合征的表型包括正常神经发育状态提供了额外证据。
