Osteoglophonic dwarfism in two generations

R. I. Kelley, P. F. Borns, D. Nichols, E. H. Zackai

Research output: Contribution to journalArticlepeer-review

Abstract

A father and son, both affected by a skeletal dysplasia with severe craniofacial deformities, are reported and compared to three previously described isolated cases of the same dwarfism. The principal features are craniosynostosis, multiple lucent metaphyseal defects, flattening and anterior beaking of the vertebral bodies, and abnormal dentition. Autosomal dominant inheritance is suggested.

Original languageEnglish (US)
Pages (from-to)436-440
Number of pages5
JournalJournal of medical genetics
Volume20
Issue number6
DOIs
StatePublished - 1983

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint

Dive into the research topics of 'Osteoglophonic dwarfism in two generations'. Together they form a unique fingerprint.

Cite this