Absent lacrimal ducts, distichiasis, dysmorphic features, and brachydactyly: a case report

Clin Dysmorphol. 2001 Oct;10(4):253-5. doi: 10.1097/00019605-200110000-00003.

Abstract

We report a male patient presenting with the association of absent lacrimal ducts, distichiasis, dysmorphic facial features and limb abnormalities. Extensive chromosomal studies showed normal chromosomes. We discuss differential diagnoses such as Setleis, Char and Lacrimo-Auriculo-Dento-Digital (LADD) syndromes. This may represent a novel entity for which parental consanguinity would support an autosomal recessive mode of inheritance.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adolescent
  • Craniofacial Abnormalities / diagnosis*
  • Eyelashes / abnormalities*
  • Fingers / abnormalities*
  • Fingers / diagnostic imaging
  • Humans
  • Lacrimal Apparatus / abnormalities*
  • Male
  • Radiography