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