Fehlow P, Tennstedt A
Psychiatr Neurol Med Psychol (Leipz). 1985 Apr;37(4):215-20.
The case of a 15-year-old boy with Ehlers-Danlos-Syndrome (EDS) is described. Clinically the symptoms of considerable hyperextension of joints, abnormal extensibility of skin, moderate bleeding tendencies and slight vulnerability of the skin, deformity of the thorax are corresponding with type I of EDS. Ocular symptoms are missing. Histologically the picture is that of mitis type resp. type II of EDS. An autosomal dominant inheritance is to be supposed. Psychically an imbecillity likely as a result of perinatally acquired brain damage, and an autistic syndrome of broken home situation are present. Differential diagnosis and genetic significance of EDS are discussed.
本文描述了一名患有埃勒斯-当洛综合征（EDS）的15岁男孩的病例。临床上，关节显著过度伸展、皮肤异常伸展性、中度出血倾向和皮肤轻度易损性、胸廓畸形等症状与EDS I型相符。眼部症状缺失。组织学表现为轻型或EDS II型。推测为常染色体显性遗传。精神方面，可能由于围产期获得性脑损伤导致智力低下，且存在家庭破裂情况引起的自闭症综合征。文中讨论了EDS的鉴别诊断和遗传学意义。
