title: Severe Hajdu-Cheney syndrome with upper airway obstruction.
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.
authors.affiliation: Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA.
authors.forename: P A
authors.initials: PA
authors.lastname: Crifasi
authors.forename: M C
authors.initials: MC
authors.lastname: Patterson
authors.forename: D
authors.initials: D
authors.lastname: Bonde
authors.forename: V V
authors.initials: VV
authors.lastname: Michels
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D000402:Airway Obstruction / Q000473:pathology*; D002648:Child; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010015:Osteolysis, Essential / Q000473:pathology*