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Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis?
Am J Med Genet. 1996 Mar 01; 62(1):1-5.AJ

Abstract

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.

Authors+Show Affiliations

Department of Pediatrics, CHRU Nantes, France.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8779315

Citation

David, A, et al. "Child With Manifestations of Nager Acrofacial Dysostosis, and the MURCS, VACTERL, and Pulmonary Agenesis Associations: Complex Defect of Blastogenesis?" American Journal of Medical Genetics, vol. 62, no. 1, 1996, pp. 1-5.
David A, Mercier J, Verloes A. Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis? Am J Med Genet. 1996;62(1):1-5.
David, A., Mercier, J., & Verloes, A. (1996). Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis? American Journal of Medical Genetics, 62(1), 1-5.
David A, Mercier J, Verloes A. Child With Manifestations of Nager Acrofacial Dysostosis, and the MURCS, VACTERL, and Pulmonary Agenesis Associations: Complex Defect of Blastogenesis. Am J Med Genet. 1996 Mar 1;62(1):1-5. PubMed PMID: 8779315.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis? AU - David,A, AU - Mercier,J, AU - Verloes,A, PY - 1996/3/1/pubmed PY - 2000/6/20/medline PY - 1996/3/1/entrez SP - 1 EP - 5 JF - American journal of medical genetics JO - Am J Med Genet VL - 62 IS - 1 N2 - 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. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8779315/Child_with_manifestations_of_Nager_acrofacial_dysostosis_and_the_MURCS_VACTERL_and_pulmonary_agenesis_associations:_complex_defect_of_blastogenesis L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=62&issue=1&spage=1 DB - PRIME DP - Unbound Medicine ER -