Trappe B O, Rupprecht E, Bosselmann E, Schaeper M, Mohnike K, Gedschold J
Klinik für Kinderheilkunde der Medizinischen Akademie Magdeburg, DDR.
Helv Paediatr Acta. 1989 Jun;43(5-6):473-82.
Four sporadically occurring characteristic cases of the Proteus syndrome are described. All patients show the main features of the disease, consisting of hemihypertrophy, partial gigantism of hands and/or feet with soft-tissue hypertrophy, plane naevi, subcutaneous tumours, and cranial anomalies. There is a remarkable polymorphism of the symptoms. Anamnestic, clinical and paraclinical findings are shown in tables. Based on a survey of the literature, the main aspects of genetics and of differential diagnosis are discussed.
本文描述了4例散发性变形综合征的典型病例。所有患者均表现出该疾病的主要特征，包括半身肥大、手足部分巨大症伴软组织肥大、表皮痣、皮下肿瘤和颅骨异常。症状具有显著的多态性。表格中列出了既往史、临床和辅助检查结果。基于文献综述，讨论了遗传学和鉴别诊断的主要方面。
