New acrofacial dysostosis syndrome in 3 sibs

Am J Med Genet. 1990 Apr;35(4):484-9. doi: 10.1002/ajmg.1320350408.


We performed clinical and autopsy studies on 3 sibs with an acrofacial dysostosis (AFD) syndrome. All 3 died neonatally from respiratory complications derived from their severe mandibular hypoplasia. They presented a malformation syndrome characterized by mandibulofacial dysostosis, predominantly preaxial limb deficiencies, rare postaxial limb anomalies, shoulder/pelvis girdle hypoplasia, and cardiac and CNS malformations. This syndromal form of AFD could represent a distinct entity with autosomal-recessive inheritance. Its delineation from other AFD syndromes is discussed.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Diagnosis, Differential
  • Extremities / diagnostic imaging
  • Genes, Recessive
  • Heart Septal Defects
  • Humans
  • Infant, Newborn
  • Limb Deformities, Congenital*
  • Male
  • Mandibulofacial Dysostosis / diagnosis*
  • Mandibulofacial Dysostosis / genetics
  • Micrognathism
  • Radiography