Severe Hajdu-Cheney syndrome with upper airway obstruction

Pamela A. Crifasi, Marc C. Patterson, Denise Bonde, Virginia V. Michels

Research output: Contribution to journalArticle

14 Scopus citations

Abstract

Hajdu-Cheney syndrome is an autosomal dominant disorder of acroosteolysis, skull deformities, characteristic facial abnormalities, osteoporosis, joint laxity, early loss of teeth, hearing loss, and a hoarse voice. We report on an 8 1/2-year-old boy with Hajdu-Cheney syndrome and cystic kidney disease, congenital heart disease, hydrocephalus, cleft lip and palate, hydrosyringomyelia, club feet, splenomegaly, hypospadias, vertebral anomalies, and upper airway obstruction. A review of 44 patients did not uncover any other patients with all of these manifestations, nor any patient with upper airway obstruction. Hajdu-Cheney syndrome appears to encompass a broader phenotype than previously recognized. The documentation of these additional anomalies is valuable because the findings of acroosteolysis and osteoporosis can present later in the course.

Original languageEnglish (US)
Pages (from-to)261-266
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume70
Issue number3
DOIs
StatePublished - Jun 13 1997

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Keywords

  • Acroosteolysis
  • Cystic kidneys
  • Hajdu-Cheney syndrome
  • Multiple congenital anomalies
  • Upper airway obstruction

ASJC Scopus subject areas

  • Genetics(clinical)

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