Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients

Am J Med Genet. 1999 Nov 5;87(1):72-7. doi: 10.1002/(sici)1096-8628(19991105)87:1<72::aid-ajmg15>3.0.co;2-7.

Abstract

We report on 2 unrelated Brazilian patients, born to non-consanguineous parents, both with multiple anomalies including growth and mental retardation, microcephaly, telecanthus, cleft palate, preauricular skin tags/pit, camptodactyly, and foot anomalies. To our knowledge, this is a previously undescribed formal genesis syndrome. Clinical and genetic aspects are discussed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Adult
  • Brazil
  • Child, Preschool
  • Cleft Palate / pathology
  • Ear, External / abnormalities
  • Female
  • Finger Joint / abnormalities
  • Follow-Up Studies
  • Foot Deformities, Congenital / pathology
  • Growth Disorders / congenital
  • Humans
  • Infant
  • Intellectual Disability / pathology
  • Male
  • Microcephaly / pathology
  • Middle Aged
  • Syndrome