David A, Mercier J, Verloes A
Department of Pediatrics, CHRU Nantes, France.
Am J Med Genet. 1996 Mar 1;62(1):1-5. doi: 10.1002/(SICI)1096-8628(19960301)62:1<1::AID-AJMG1>3.0.CO;2-1.
Nager acrofacial dysostosis (NAFD) combines the facial anomalies of mandibulofacial dysostosis (Treacher-Collins-Francescetti) with hypoplastic/aplastic or triphangeal thumbs. The MURCS association consists of Müllerian duct aplasia, renal aplasia, cervicothoracic somite dysostosis with Klippel-Feil anomaly, and often defects of the facio-auriculo-vertebral (Goldenhar) spectrum. We describe a child with NAFD, MURCS anomaly (Klippel-Feil anomaly, vertebral synostoses, left renal agenesis), and left pulmonary agenesis. Our proband appears to express a unique anomaly of blastogenesis, simultaneously affecting the acrorenal, the mandibulofacial, and the cervicothoracic developmental fields, combining clinical manifestations of the MURCS, NAFD, VACTERL, and pulmonary agenesis associations. All anomalies may be traced back to abnormal blastogenesis, occurring during the third or the fourth week of embryonic development, and show that NAFD is a polytopic developmental field defect.
纳杰尔肢体颜面发育不全（NAFD）表现为下颌面骨发育不全（特雷彻 - 柯林斯 - 弗朗西斯科蒂综合征）的面部异常与发育不全/发育不全或三指节拇指同时存在。MURCS综合征包括苗勒管发育不全、肾发育不全、伴有克-费二氏异常的颈胸节段发育异常，且常伴有面-耳-椎（戈尔登哈综合征）谱系缺陷。我们描述了一名患有NAFD、MURCS异常（克-费二氏异常、椎体融合、左肾缺如）和左肺缺如的儿童。我们的先证者似乎表现出一种独特的胚细胞形成异常，同时影响肢肾、下颌面和颈胸发育领域，合并了MURCS、NAFD、VACTERL和肺缺如综合征的临床表现。所有异常都可追溯到胚胎发育第三或第四周发生的异常胚细胞形成，表明NAFD是一种多部位发育领域缺陷。
