Rosenak D, Ariel I, Arnon J, Diamant Y Z, Ben Chetrit A, Nadjari M, Zilberman R, Yaffe H, Cohen T, Ornoy A
Department of Obstetrics and Gynecology, Bikur Cholim Hospital, Jerusalem, Israel.
Am J Med Genet. 1991 Jan;38(1):25-8. doi: 10.1002/ajmg.1320380107.
A term amelic female infant was born to an apparently nonconsanguineous Arab Moslem couple. This was followed by the birth of 4 normal children. Afterwards, in 2 subsequent pregnancies, 2 amelic fetuses were diagnosed by transabdominal ultrasonography in the 18th and 12th week of gestation. Pregnancies were terminated and on autopsy both amelic fetuses had severe lung hypoplasia and aplasia of the peripheral pulmonary vessels. The first fetus also had apparently low-set ears and micrognathia, whereas the last had hydrocephaly and left cleft lip beside the lung hypoplasia and aberrant pulmonary artery. This appears to be a new autosomal recessive malformation syndrome.
一名足月无肢女婴出生于一对表面上无血缘关系的阿拉伯穆斯林夫妇。随后这对夫妇又生育了4个正常孩子。之后，在接下来的2次妊娠中，通过经腹超声在妊娠第18周和第12周时诊断出2个无肢胎儿。妊娠均被终止，尸检发现两个无肢胎儿均有严重的肺发育不全和外周肺血管发育不全。第一个胎儿还明显有低位耳和小颌畸形，而最后一个除了肺发育不全和异常肺动脉外，还有脑积水和左侧唇裂。这似乎是一种新的常染色体隐性畸形综合征。
