Nivelon A, Nivelon J L, Mabille J P, Maroteaux P, Feldman J P, Douvier S, Aymé S
Centre de Génétique, Hospital d'enfants, Dijon, France.
Clin Dysmorphol. 1992 Oct;1(4):221-7.
Two siblings with a previously undescribed syndrome are presented. They both have severe dwarfism, antenatal in origin, with generalized chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, a hypoplastic iris and a papillous coloboma (Coloboma of the optic disc). The first sibling has a 46,XY karyotype despite normal female internal and external genitalia. She has moderate mental retardation. Gestation of the second sibling was interrupted after antenatal diagnosis. The fetus was 46,XX and very similar to the first case.
本文报告了两名患有此前未描述过的综合征的兄弟姐妹。他们均患有严重的侏儒症，起源于产前，伴有全身性软骨发育异常、严重小头畸形伴小脑蚓部发育不全、虹膜发育不全和视乳头缺损（视神经盘缺损）。第一名兄弟姐妹尽管内外生殖器为正常女性特征，但核型为46,XY。她有中度智力障碍。第二名兄弟姐妹在产前诊断后终止妊娠。胎儿为46,XX，与第一个病例非常相似。
