Fayad M N, Yacoub A, Salman S, Khudr A, Der Kaloustian V M
Am J Med Genet. 1987 Jan;26(1):123-31. doi: 10.1002/ajmg.1320260119.
We report on a sister and a brother (born to normal consanguineous parents) with joint contractures and osteolytic lesions of bones. The sister had also gingival hyperplasia and skin lesions consisting of multiple tumors of the face, nose, palate, ears, and neck. Histologic examination showed findings of juvenile hyaline fibromatosis. The literature is reviewed, and 15 cases already reported are summarized.
我们报告了一对兄妹（父母为正常近亲），他们患有关节挛缩和骨骼溶骨性病变。妹妹还患有牙龈增生以及由面部、鼻子、腭部、耳朵和颈部的多个肿瘤组成的皮肤病变。组织学检查显示为青少年透明纤维瘤病的表现。本文对相关文献进行了综述，并总结了已报道的15例病例。
