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Cystic kidney disease in Hajdu-Cheney syndrome

✍ Scribed by Kaplan, Paige ;Ramos, Feliciano ;Zackai, Elaine H. ;Bellah, Richard D. ;Kaplan, Bernard S.

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 692 KB
Volume: 56
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320560108

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The Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disorder. It comprises a coarse face, short neck, hirsutism, joint laxity, and normal intelligence. Bone dysplasias, include acro-osteolysis, bathrocephaly, and vertebral anomalies. In 1988, Exner [1988: Eur J Pediatr 147:544-546] coined t