Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature-Reference-Cited by-同舟云学术

Delineation of the clinical and radiological features of Stuve–Wiedemann syndrome childhood survivors, four new cases and review of the literature

Published:2020-12-11 Issue:3 Volume:185 Page:856-865
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Siccha Sofía M.¹²^ORCID,Cueto Anna María³⁴⁵,Parrón‐Pajares Manuel⁶⁷⁸,González‐Morán Gaspar⁷⁸⁹,Pacio‐Miguez Marta¹,Del Pozo Ángela¹⁸¹⁰,Solís Mario¹⁸¹⁰^ORCID,Rodriguez‐Jimenez Carmen¹,Caino Silvia¹¹,Fano Virginia¹¹,Heath Karen E.¹⁷⁸¹⁰^ORCID,García‐Miñaúr Sixto¹⁸¹⁰,Palomares‐Bralo María¹⁸¹⁰^ORCID,Santos‐Simarro Fernando¹⁷⁸¹⁰^ORCID

Affiliation:

1. Institute of Medical & Molecular Genetics (INGEMM), Hospital Universitario La Paz Universidad Autónoma de Madrid, IdiPAZ Madrid Spain

2. Department of Pediatrics Hospital Universitario la Paz Madrid Spain

3. Department of Clinical and Molecular Genetics Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus Barcelona Spain

4. Medical Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus Barcelona Spain

5. European Reference Network, ERN CRANIO Barcelona Spain

6. Department of Radiology Hospital Universitario La Paz Madrid Spain

7. Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN BOND Hospital Universitario La Paz Madrid Spain

8. European Reference Network ERN ITHACA Madrid Spain

9. Department of Orthopaedic Surgery and Traumatology Hospital Universitario la Paz Madrid Spain

10. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U753), Instituto Carlos III Madrid Spain

11. Growth and Developmental Department Hospital de Pediatría Garrahan Buenos Aires Argentina

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62010

Reference23 articles.

1. Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.

2. Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features

3. Stuve-Wiedemann syndrome: a skeletal dysplasia characterized by bowed long bones

4. Long-term follow-up in Stuve–Wiedemann syndrome

5. Characterization of a long-term survivor with St�ve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome

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1. A novel termination site in a case of Stüve–Wiedemann syndrome: case report and review of literature;Frontiers in Pediatrics;2024-04-02

2. Case Report: Stüve–Wiedemann syndrome—a rare cause of persistent pulmonary hypertension of the newborn;Frontiers in Pediatrics;2024-01-04

3. Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome – A case series from the West Midlands, UK;European Journal of Medical Genetics;2023-08

4. Neuroparalytic keratopathy in Stüve-Wiedemann syndrome treated with tarsoconjunctival flap;Indian Journal of Ophthalmology;2023-04

5. Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review;Orphanet Journal of Rare Diseases;2022-04-23