| Autor: |
Ramos FJ; Sección de Genética, Departamento de Pediatría, Facultad de Medicina, Universidad de Zaragoza, Spain. framos@posta.unizar.es, Kaplan BS, Bellah RD, Zackai EH, Kaplan P |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of medical genetics [Am J Med Genet] 1998 Aug 06; Vol. 78 (5), pp. 474-81. |
| DOI: |
10.1002/(sici)1096-8628(19980806)78:5<474::aid-ajmg14>3.0.co;2-c |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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