Moller K T, Gorlin R J
J Craniofac Genet Dev Biol Suppl. 1985;1:283-6.
The purpose of the article is to update information concerning Dubowitz syndrome. A review of the literature since the disorder was originally described in 1965 is presented. In addition, case reports are presented for two siblings described in 1971 describing speech and dental development and current clinical findings. Analysis of approximately 30 cases reveals prevalence of growth failure and delayed bone age, mild microcephaly, broad forehead with sparse frontal hair, telecanthus, blepharophimosis, abnormal pinnae, broad nose, and micrognathia. Overt cleft palate or submucous cleft palate is not a prevalent finding (16%). High-pitched and hoarse voice quality appears to be a constant feature. There is the suggestion of an association with leukemia, lymphoma, and neuroblastoma. Inheritance appears clearly autosomal recessive.
本文的目的是更新有关杜波维茨综合征的信息。文中对自1965年该病症首次被描述以来的文献进行了综述。此外，还呈现了1971年所描述的一对兄弟姐妹的病例报告，内容涉及言语和牙齿发育情况以及当前的临床发现。对约30例病例的分析显示，生长发育迟缓、骨龄延迟、轻度小头畸形、前额宽阔且额部毛发稀疏、内眦距过宽、睑裂狭小、耳廓异常、鼻宽、小颌畸形较为常见。明显的腭裂或黏膜下腭裂并非常见表现（占16%）。高音调且嘶哑的嗓音似乎是一个持续存在的特征。有迹象表明该综合征与白血病、淋巴瘤和神经母细胞瘤有关。其遗传方式明显为常染色体隐性遗传。
