Chrzanowska K H, Krajewska-Walasek M
Department of Genetics, Memorial Hospital, Child Health Centre, Warsaw, Poland.
Klin Padiatr. 1987 Sep-Oct;199(5):370-2. doi: 10.1055/s-2008-1026822.
A boy with the Dubowitz syndrome is presented. This autosomal recessive disorder is characterized by variable degrees of intrauterine and postnatal growth retardation, microcephaly, mild mental retardation, hyperactivity, "eczema", characteristic facial appearance and combination of minor abnormalities. Thirty-eight cases of this syndrome have been reported in the literature. Symptoms and difficulties in differential diagnosis are discussed.
本文报告了一名患有杜波维茨综合征的男孩。这种常染色体隐性疾病的特征是宫内和出生后不同程度的生长发育迟缓、小头畸形、轻度智力迟钝、多动、“湿疹”、特征性面容以及多种轻微异常的组合。文献中已报道了38例该综合征病例。文中讨论了其症状及鉴别诊断的难点。