The Hajdu-Cheney syndrome. Report of two cases and review of the literature

Richard G. Weleber, Rodney K. Beals

Research output: Contribution to journalArticle

31 Scopus citations

Abstract

The Hajdu-Cheney syndrome includes short stature, characteristic facies, and a slowly progressive skeletal dysplasia which affects skull, spine, and long bones. Two patients with this syndrome are presented. In the first patient the most distinctive skeletal feature, acro-osteolysis, was shown to be absent at age 6 years but was present at age 11 years. Diagnosis was made in the second case in the absence of acroosteolysis because of otherwise typical findings. Abnormalities affecting vision, hearing, and dentition occur and these, along with the other characteristic physical and radiographic features of the syndrome, should enable diagnosis prior to the onset of acro-osteolysis.

Original languageEnglish (US)
Pages (from-to)243-249
Number of pages7
JournalThe Journal of pediatrics
Volume88
Issue number2
DOIs
StatePublished - Feb 1976

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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