Antoniades K, Hatzistilianou M, Pitsavas G, Agouridaki C, Athanassiadou F
Oral and Maxillofacial Surgery Department, Aristotle University of Thessaloniki, Greece.
Eur J Pediatr. 1996 May;155(5):390-2. doi: 10.1007/BF01955268.
A case of a 5-year-old girl is described whose clinical features included postnatal growth retardation, microcephaly and characteristic facial appearance. These are recognized as the main features of the Dubowitz syndrome. Apart from these features, our patient had recurrent infections of the sinopulmonary tract, high serum IgE levels, defective chemotaxis of polymorphonuclear cells and defective antibody response, findings characterizing the hyper-IgE syndrome. The co-existence of these two syndromes is rare and we suggest that this is the first such case in the literature.
Patients with the Dubowitz syndrome will Dubowitz syndrome will require long-term follow up because there is a considerable risk for the syndrome to co-exist with primary immunodeficiency or for malignancies to develop.
描述了一名5岁女孩的病例，其临床特征包括出生后生长发育迟缓、小头畸形和特征性面容。这些被认为是杜波维茨综合征的主要特征。除这些特征外，我们的患者有反复的鼻窦肺部感染、血清IgE水平升高、多形核细胞趋化性缺陷和抗体反应缺陷，这些发现是高IgE综合征的特征。这两种综合征并存的情况很少见，我们认为这是文献中首例此类病例。
杜波维茨综合征患者需要长期随访，因为该综合征与原发性免疫缺陷并存或发生恶性肿瘤的风险相当高。
