Borrone C, Di Rocco M, Crovato F, Camera G, Gambini C
II Divisione di Pediatria, Istituto G. Gaslini, Genova, Italy.
Am J Med Genet. 1993 Apr 15;46(2):228-34. doi: 10.1002/ajmg.1320460225.
We report on 2 brothers with a severe progressive disorder characterized by thick skin, acne conglobata, "coarse" face, osteolysis, gingival hypertrophy, brachydactyly, camptodactyly, and mitral valve prolapse. The youngest brother died at age 24 years because of heart failure. Biochemical and pathological studies excluded known metabolic diseases. We think that this is a new genetic disorder inherited in autosomal recessive or X-linked recessive manner.
我们报告了2名患有严重进行性疾病的兄弟，其特征为皮肤增厚、聚合性痤疮、面容“粗糙”、骨质溶解、牙龈肥大、短指畸形、屈曲指畸形和二尖瓣脱垂。最年幼的兄弟因心力衰竭于24岁时去世。生化和病理研究排除了已知的代谢性疾病。我们认为这是一种以常染色体隐性或X连锁隐性方式遗传的新的遗传性疾病。
