Tsukahara M, Opitz J M
School of Allied Health Sciences, Yamaguchi University, Ube, Japan.
Am J Med Genet. 1996 May 3;63(1):277-89. doi: 10.1002/(SICI)1096-8628(19960503)63:1<277::AID-AJMG46>3.0.CO;2-I.
We review clinical information on 141 individuals with Dubowitz syndrome, 105 reported since 1965, and 36 previously unreported. We define the Dubowitz syndrome phenotype on the basis of clinical descriptions. The facial appearance is characteristic and present in most patients with Dubowitz syndrome. The phenotypic spectrum is quite variable and ranges from normal growth and head circumference with mild psychomotor retardation and lack of eczema to a condition of severe growth retardation, mental retardation, microcephaly, and eczema. Overall, the condition may involve the cutaneous, ocular, dental, digestive, musculoskeletal, urogenital, cardiovascular, neurological, hematological, and immune systems. Characteristic behavior patterns which have not been cited previously are present in our cases; most patients are hyperactive, shy, hate crowds, and like music, rhythm, and vibrations from music speakers, tape recorders, or transmitted through floors. Dubowitz syndrome is an autosomal recessive disorder with possibly increased frequency of parental consanguinity. Heterogeneity cannot be excluded at this time.
我们回顾了141例杜波维茨综合征患者的临床信息，其中105例自1965年以来已有报道，36例此前未报道过。我们根据临床描述定义了杜波维茨综合征的表型。面部外观具有特征性，大多数杜波维茨综合征患者都有此表现。表型范围变化很大，从生长和头围正常但有轻度精神运动发育迟缓且无湿疹，到严重生长发育迟缓、智力低下、小头畸形和湿疹的情况。总体而言，该病可能累及皮肤、眼睛、牙齿、消化、肌肉骨骼、泌尿生殖、心血管、神经、血液和免疫系统。我们的病例中存在以前未被提及的特征性行为模式；大多数患者多动、害羞、讨厌人群，喜欢音乐、节奏以及来自音箱、录音机或通过地板传播的震动。杜波维茨综合征是一种常染色体隐性疾病，父母近亲结婚的频率可能增加。目前不能排除基因异质性。
