Ballini Andrea, Cantore Stefania, Tullo Domenica, Desiate Apollonia
Department of Dental Sciences and Surgery, University of Bari 'Aldo Moro', Bari, Italy.
J Med Case Rep. 2011 Jan 27;5:38. doi: 10.1186/1752-1947-5-38.
Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds.
We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome.
Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments.
杜波维茨综合征是一种非常罕见的常染色体隐性疾病，其特征为小头畸形、生长发育迟缓、高额斜头、面部不对称、睑裂狭小、头发和眉毛稀疏、低位耳及智力障碍。患者症状各异，但其他特征包括柔和的高音调嗓音、牙齿和颅面异常、手指和脚趾部分蹼状、腭裂畸形、生殖器异常、湿疹、多动、偏好具体思维而非抽象思维、语言困难以及厌恶人群。
我们描述了一名12岁的意大利裔白种男孩的颅面和牙齿特征，该男孩具有杜波维茨综合征的典型及较少见表现。
杜波维茨综合征的诊断主要基于面部表型。鉴别诊断的可能疾病包括布卢姆综合征、史密斯-勒米-奥皮茨综合征和胎儿酒精综合征。由于该综合征在文献中的报道较少，我们希望本病例报告能使医疗专业人员认识到该综合征的表型改变，并能尽早转诊以便进行必要的多学科治疗。
