Severe Hajdu-Cheney syndrome with upper airway obstruction

✍ Scribed by Crifasi, Pamela A.; Patterson, Marc C.; Bonde, Denise; Michels, Virginia V.

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 474 KB
• Volume: 70
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19970613)70:3<261::aid-ajmg9>3.0.co;2-z

✦ Synopsis

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. Am.