The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant

Am J Med Genet. 1999 Dec 22;87(5):430-3. doi: 10.1002/(sici)1096-8628(19991222)87:5<430::aid-ajmg11>3.0.co;2-9.

Abstract

We report on a French boy with cleft mandible, pre/postaxial hand anomalies, and clubfoot born to consanguineous parents. These findings are comparable to those of previous cases of the autosomal recessive Richieri-Costa and Pereira syndrome of short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. This is the first case in a non-Brazilian infant.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Clubfoot / genetics*
  • Consanguinity
  • Dysostoses / diagnostic imaging
  • Dysostoses / genetics*
  • Facies
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant
  • Jaw Abnormalities / diagnostic imaging
  • Jaw Abnormalities / genetics*
  • Male
  • Mandible / abnormalities*
  • Mandible / diagnostic imaging
  • Tomography, X-Ray Computed