Vocal cord paralysis and cystic kidney disease in Hajdu-Cheney syndrome.
In this report we describe the clinical history and symptoms in a 36-year-old male with Hajdu-Cheney syndrome, an autosomal dominant condition with dissolution of the terminal phalanges (acro-osteolysis), characteristic craniofacial dysmorphism, and musculoskeletal alterations. He was admitted at that age because of progressive respiratory problems, with Cheyne-Stokes respiration and bilateral vocal cord paralysis. Terminal renal failure with cystic renal disease was diagnosed at the age of 14 years. The findings in the present patient illustrate the risk of progressive neurologic degeneration with involvement of the cranial nerves in patients with Hajdu-Cheney syndrome. Moreover, we confirm that cystic renal changes are an integral part of Hajdu-Cheney syndrome, and agree that Hajdu-Cheney syndrome and Serpentine fibula syndrome are probably variant examples of the same disease.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Stinckens
C
C
Feenstra
L
L
D000328:Adult; D019066:Facies; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000473:pathology*; D008297:Male; D010015:Osteolysis, Essential / Q000000981:diagnostic imaging / Q000473:pathology*; D011859:Radiography; D014826:Vocal Cord Paralysis / Q000473:pathology*