Zand Dina J, Huff Dale, Everman David, Russell Karen, Saitta Sulagna, McDonald-McGinn Donna, Zackai Elaine H
Division of Human and Molecular Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A. 2004 Apr 30;126A(3):261-6. doi: 10.1002/ajmg.a.20598.
We present three families with infantile myofibromatosis (IM; OMIM no. 228550) inherited in an autosomal dominant (AD) manner. These three pedigrees prompted re-assessment of pedigrees available within the genetic, oncologic, surgical, and pathologic literature, which suggest autosomal recessive (AR) inheritance. All familial IM may be interpreted as AD or, alternatively, there may be genetic heterogeneity for IM. As most nodules tend to regress spontaneously, familial history may be difficult to obtain and/or confirm. Clinical diagnosis and establishment of inheritance pattern can be important for prognosis and the recognition that other family members may be affected.
我们报告了三例以常染色体显性（AD）方式遗传的婴儿肌纤维瘤病（IM；OMIM编号228550）家族。这三个家系促使我们重新评估了遗传、肿瘤学、外科和病理学文献中已有的家系，这些文献提示为常染色体隐性（AR）遗传。所有家族性IM都可解释为AD遗传，或者，IM可能存在遗传异质性。由于大多数结节往往会自发消退，家族史可能难以获取和/或确认。临床诊断和遗传模式的确定对于预后以及认识到其他家庭成员可能受到影响可能很重要。
