Further evidence that the Hajdu-Cheney syndrome and the "serpentine fibula-polycystic kidney syndrome" are a single entity.

Abstract

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 the term "serpentine fibula-polycystic kidney syndrome" (SFPKS) when he reported on a girl with short stature, unusual facial appearance, polycystic kidneys, and elongated curved fibulae. He postulated that it was a new entity different from the Melnick-Needles syndrome. Since his report, five similar cases have been published. Similarities between both HCS and SFPKS were noticed first by us and then by other authors. In this report we show that many clinical and radiological characteristics are shared by the HCS and the SFPKS and hypothesize that they represent a single entity with a variable degree of expression.

• Authors: F J Ramos, B S Kaplan, R D Bellah, E H Zackai, P Kaplan
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 78 Issue 5 Pg. 474-81 (Aug 06 1998) ISSN: 0148-7299 [Print] United States
• PMID: 9714016 (Publication Type: Journal Article)

Topics

• Abnormalities, Multiple
• Child, Preschool
• Female
• Fibula (abnormalities)
• Humans
• Limb Deformities, Congenital (diagnostic imaging)
• Male
• Osteolysis, Essential (diagnostic imaging)
• Polycystic Kidney Diseases
• Radiography
• Skull (abnormalities, diagnostic imaging)
• Syndrome