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Literature DB >> 18815778

Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease.

Abstract

Six patients who presented with craniofacial anomalies, musculoskeletal anomalies including elongated and bowed (serpentine) fibulae, and polycystic kidneys are reported. This association of anomalies is referred to as serpentine fibula polycystic kidney syndrome (SFPKS) and is currently interpreted as a manifestation of Hajdu-Cheney syndrome (HCS). We report a new instance of this association of anomalies and review the clinical and radiographic features of HCS and of the reported cases of SFPKS.

Entities: Disease Mutation Species

Mesh：

Year: 2008 PMID： 18815778 DOI： 10.1007/s00247-008-0992-9

Source DB: PubMed Journal: Pediatr Radiol ISSN： 0301-0449

12 in total

1. Sporadic idiopathic acroosteolysis with cranio-skeletal dysplasis, polycystic kidneys and glomerulonephritis. A case of the Hajdu-Cheney syndrome.

Authors: E Rosenmann; S Penchas; T Cohen; I Aviad
Journal: Pediatr Radiol Date: 1977-09-01

2. Serpentine fibula syndrome: a variant clinical presentation of Hajdu-Cheney syndrome?

Authors: J P Fryns
Journal: Clin Dysmorphol Date: 1997-07 Impact factor: 0.816

3. Melnick-Needles or Cheney-Hajdu?

Authors: D Shaw
Journal: Helv Paediatr Acta Date: 1987-10

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

Authors: F J Ramos; B S Kaplan; R D Bellah; E H Zackai; P Kaplan
Journal: Am J Med Genet Date: 1998-08-06

5. Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity.

Authors: A M Dereymaeker; J Christens; R Eeckels; G Heremans; J P Fryns
Journal: Helv Paediatr Acta Date: 1986-10

6. Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders.

Authors: F Majewski; H Enders; M B Ranke; T Voit
Journal: Eur J Pediatr Date: 1993-11 Impact factor: 3.183

7. Hajdu-Cheney syndrome: report of a case.

Authors: Dale A Ellison; Eileen N Ellis; Evan R Kokoska
Journal: Pediatr Dev Pathol Date: 2007 Nov-Dec

8. Arthro-osteo-renal dysplasia. Report of a case.

Authors: M Zahran; O Eklöf; M Ritzen
Journal: Acta Radiol Diagn (Stockh) Date: 1984

9. Serpentine fibula--polycystic kidney syndrome. A variant of the Melnick-Needles syndrome or a distinct entity?

Authors: G U Exner
Journal: Eur J Pediatr Date: 1988-06 Impact factor: 3.183

Review 10. Cystic kidney disease in Hajdu-Cheney syndrome.

Authors: P Kaplan; F Ramos; E H Zackai; R D Bellah; B S Kaplan
Journal: Am J Med Genet Date: 1995-03-13

13 in total

Review 1. Notch and the regulation of osteoclast differentiation and function.

Authors: Jungeun Yu; Ernesto Canalis
Journal: Bone Date: 2020-06-08 Impact factor: 4.398

Review 2. Diagnosis and management of childhood polycystic kidney disease.

Authors: William E Sweeney; Ellis D Avner
Journal: Pediatr Nephrol Date: 2010-10-29 Impact factor: 3.714

Review 3. Notch Signaling and the Skeleton.

Authors: Stefano Zanotti; Ernesto Canalis
Journal: Endocr Rev Date: 2016-04-13 Impact factor: 19.871

4. Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.

Authors: Mary J Gray; Chong Ae Kim; Debora Romeo Bertola; Paula Ricci Arantes; Helen Stewart; Michael A Simpson; Melita D Irving; Stephen P Robertson
Journal: Eur J Hum Genet Date: 2011-06-29 Impact factor: 4.246

Review 5. Hajdu-Cheney syndrome: a case report with review of literature.

Authors: Shailesh Palav; Jeevan Vernekar; Sweta Pereira; Ankush Desai
Journal: J Radiol Case Rep Date: 2014-09-30

Review 6. Notch signaling in skeletal health and disease.

Authors: Stefano Zanotti; Ernesto Canalis
Journal: Eur J Endocrinol Date: 2013-05-08 Impact factor: 6.664

7. Idiopathic non-familial acro-osteolysis: a rare case report.

Authors: Pijush K Datta; Sanjay Ghosh; Abhishek De
Journal: Indian J Dermatol Date: 2012-11 Impact factor: 1.494

8. An unusual presentation of diabetic ketoacidosis in familial hajdu-cheney syndrome: a case report.

Authors: Gil-Ho Lee; So-Yeon An; Young Bae Sohn; Seon-Yong Jeong; Yoon-Sok Chung
Journal: J Korean Med Sci Date: 2013-10-31 Impact factor: 2.153

Review 9. Hajdu-Cheney syndrome: a review.

Authors: Ernesto Canalis; Stefano Zanotti
Journal: Orphanet J Rare Dis Date: 2014-12-10 Impact factor: 4.123

10. Hajdu-Cheney Syndrome: Report of a Case in Spain.

Authors: Jonathan Cortés-Martín; Juan Carlos Sánchez-García; Beatriz Piqueras-Sola; Raquel Rodríguez-Blanque; María Isabel Tovar-Gálvez; Lourdes Díaz-Rodríguez
Journal: Diagnostics (Basel) Date: 2022-02-23