Is Webbing (Pterygia) a Constant Feature in Patients with Escobar Syndrome?-Reference-Cited by-同舟云学术

Is Webbing (Pterygia) a Constant Feature in Patients with Escobar Syndrome?

Published:2013-11 Issue:4 Volume:5 Page:297-301
ISSN:1757-7853
Container-title:Orthopaedic Surgery
language:en
Short-container-title:Orthopaedic Surgery

Author:

Al Kaissi Ali¹²,Kenis Vladimir³,Laptiev Sergey³,Ghachem Maher Ben⁴,Klaushofer Klaus¹,Ganger Rudolf²,Grill Franz²

Affiliation:

1. First Medical Department, Hanusch Hospital; Ludwig-Boltzmann Institute of Osteology; Hanusch Hospital of WGKK, AUVA Trauma Center Meidling; Vienna Austria

2. Paediatric Department; Orthopaedic Hospital of Speising; Vienna Austria

3. Department of Foot and Ankle Surgery; Pediatric Orthopedic Institute; Pushkin Saint-Petersburg Russia

4. Paediatric Orthopaedic Surgery; Children Hospital of Tunis; Tunisia

Publisher

Wiley

Subject

Orthopedics and Sports Medicine,Surgery

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/os.12064/fullpdf

Reference21 articles.

1. The prevalence of skeletal dysplasias. An estimate of their minimum frequency and the number of patients requiring orthopaedic care;Wynne-Davies;J Bone Joint Surg Br,1985

2. Developement Abnormal D'un Faisceau Musculare Acromio-Mastoidien Rudimentaire, Malformation Congenitale Rare, Observe'e A Pondicherry (Indes Orientales);Bussiere;Annales d'Hygiene et de Medecine Coloniales,1902

3. Multiple pterygium syndrome;Escobar;Am J Dis Child,1978

4. Pterygium syndrome in three children in a recessive pedigree pattern;Norum;Birth Defects,1969

5. CHRNG genotype-phenotype correlations in the multiple pterygium syndromes;Vogt;J Med Genet,2012

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