先证者为一名具有多发性先天性畸形的女性婴儿(黑人),出生时父亲33岁,母亲27岁。父母、一个4岁的哥哥和一个2岁的姐姐表型正常。母亲第一次妊娠至第10周流产。在本次妊娠前五年,母亲曾因背部疼痛接受脊柱下部的放射线检查;妊娠第3个月 The proband was a female infant (black) with multiple congenital malformations. At birth, her father was 33 years old and her mother was 27 years old. Parents, a 4-year-old brother and a 2-year-old sister phenotype normal. Maternal first pregnancy until the 10th week of abortion. In the first five months of pregnancy, the mother had a radiographic examination of the lower spine for back pain; the third month of pregnancy