Hansen K E, Kirkpatrick S J, Laxova R
School of Medicine, University of Wisconsin, Madison, USA.
Am J Med Genet. 1995 Jan 16;55(2):161-4. doi: 10.1002/ajmg.1320550205.
Dubowitz syndrome is an autosomal recessive disorder of growth retardation, characteristic face, mild mental retardation, and eczema originally described by Dubowitz [1965]. Little information is available on natural history and adulthood in this disorder. We report on a 30-year-old woman who was one of the first patients to be diagnosed with the condition [Grosse et al., 1971, Z Kinderheilkd 110:175-187]. Microcephaly, short stature, leg length discrepancy, hyperextensible joints, spina bifida occulta, and absence of anterior cruciate ligaments were present. Her facial appearance had been modified by several plastic surgery procedures. Eczema resolved with age, with occasional flareups. Asthma, headaches, and seizures were additional medical findings. Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood. Mild mental retardation was present. At age 30 years she is living independently in her own apartment and working full-time in a nearby sheltered workshop.
杜波维茨综合征是一种常染色体隐性疾病，其特征为生长发育迟缓、特殊面容、轻度智力障碍和湿疹，最初由杜波维茨于1965年描述。关于该疾病的自然病史和成年期情况的信息很少。我们报告了一名30岁女性，她是首批被诊断为此病的患者之一[格罗斯等人，1971年，《儿科医学》110:175 - 187]。她存在小头畸形、身材矮小、腿长不等、关节过度伸展、隐性脊柱裂以及前交叉韧带缺失。她的面部外观通过多次整形手术得到了改善。湿疹随年龄增长而缓解，偶尔会复发。哮喘、头痛和癫痫是其他医学发现。童年时期有语言发育迟缓、异常柔和高音调的声音、黏膜下腭裂和腭咽闭合不全。存在轻度智力障碍。30岁时，她独自居住在自己的公寓里，并在附近的庇护工厂全职工作。
