Type III syndactyly and oculodentodigital dysplasia: a clinical spectrum

Genet Couns. 1993;4(4):271-6.

Abstract

A newborn male patient presented with complete cutaneous syndactyly of fingers 3-5 in the left hand and fingers 4-5 in the right hand. The mother and maternal grandmother were born with the same hand malformation. Facial features in the mother showed a thin nose and small teeth; eyes were normal. In the grandmother, teeth had been very small with enamel hypoplasia; eyes were normal. The present family provides evidence of the variable expression in oculodentodigital dysplasia. Inheritance is autosomal dominant.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / classification
  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adult
  • Dental Enamel Hypoplasia / classification
  • Dental Enamel Hypoplasia / diagnosis
  • Dental Enamel Hypoplasia / genetics*
  • Face / abnormalities*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Iris / abnormalities*
  • Male
  • Microphthalmos / classification
  • Microphthalmos / diagnosis
  • Microphthalmos / genetics*
  • Middle Aged
  • Phenotype
  • Syndactyly / classification
  • Syndactyly / diagnosis
  • Syndactyly / genetics*
  • Syndrome