Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly

Am J Med Genet. 1982 Sep;13(1):71-9. doi: 10.1002/ajmg.1320130112.

Abstract

We report the familial occurrence in a French Canadian family of metaphyseal dysplasia associated to short stature and previously undescribed facial and acral anomalies. Facial manifestations include beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth. Acral changes include bilateral shortness of metacarpal 5 and/or 2nd middle phalanx of fingers 2 and 5. Dermatoglyphics show low TRC, distal or absent axial triradius, absent triradius C, and radial loop on digit 4. The syndrome appears to be an autosomal dominant trait.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Bone Diseases, Developmental / genetics*
  • Child, Preschool
  • Consanguinity
  • Dermatoglyphics
  • Dwarfism / genetics
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Maxillofacial Development
  • Orofaciodigital Syndromes / genetics*
  • Pedigree