CHILD WITH MANIFESTATIONS OF NAGER ACROFACIAL DYSOSTOSIS, AND THE MURCS, VACTERL, AND PULMONARY AGENESIS ASSOCIATIONS - COMPLEX DEFECT OF BLASTOGENESIS

Nager acrofacial dysostosis (NAFD) combines the facial anomalies of ma ndibulofacial dysostosis (Treacher-Collins-Francescetti) with hypoplas tic/aplastic or triphangeal thumbs, The MURCS association consists of Mullerian duct aplasia, renal aplasia, cervicothoracic somite dysostos is with Klippel-Feil anomaly, and often defects of the facio-auriculo- vertebral (Goldenhar) spectrum. We describe a child with NAFD, MURCS a nomaly (Klippel-Feil anomaly, vertebral synostoses, left renal agenesi s), and left pulmonary agenesis, Our proband appears to express a uniq ue anomaly of blastogenesis, simultaneously affecting the acrorenal, t he mandibulofacial, and the cervicothoracic developmental fields, comb ining clinical manifestations of the MURCS, NAFD, VACTERL, and pulmona ry agenesis associations. All anomalies may be traced back to abnormal blastogenesis, occurring during the third or the fourth week of embry onic development, and show that NAFD is a polytopic developmental fiel d defect. (C) 1996 Wiley-Liss, Inc.