SEVERE HAJDU-CHENEY-SYNDROME WITH UPPER AIRWAY-OBSTRUCTION

Hajdu-Cheney syndrome is an autosomal dominant disorder of acroosteoly sis, skull deformities, characteristic facial abnormalities, osteoporo sis, joint laxity, early loss of teeth, hearing loss, and a hoarse voi ce, 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, hypospadi as, vertebral anomalies, and upper airway obstruction, A review of 44 patients did not uncover any other patients with all of these manifest ations, nor any patient with upper airway obstruction, Hajdu-Cheney sy ndrome appears to encompass a broader phenotype than previously recogn ized, The documentation of these additional anomalies is valuable beca use the findings of acroosteolysis and osteoporosis can present later in the course. (C) 1997 Wiley-Liss, Inc.