Is webbing (pterygia) a constant feature in patients with Escobar syndrome?

Abstract

We describe two unrelated patients aged 9 and 12 years. The first patient presented with multiple congenital contractures not associated with webbing (pterygia). Interestingly, his genetic testing showed the typical genotypic criteria of Escobar syndrome (CHRNG heterozygous mutation). The characteristics of the second child were compatible with the phenotypic and genotypic criteria for Escobar syndrome. Both patients manifested the typical facial features suggestive of Escobar syndrome. The aim of this paper is twofold: first, to illustrate that the absence of popliteal webbing is not a sufficient reason to exclude Escobar syndrome in patients with multiple contractures and second, dysmorphic facial features and the presence of certain radiological abnormalities might be considered baseline diagnostic tools in favor of this syndromic entity.

• Authors: Ali Al Kaissi, Vladimir Kenis, Sergey Laptiev, Maher Ben Ghachem, Klaus Klaushofer, Rudolf Ganger, Franz Grill
• Journal: Orthopaedic surgery (Orthop Surg) Vol. 5 Issue 4 Pg. 297-301 (Nov 2013) ISSN: 1757-7861 [Electronic] Australia
• PMID: 24254455 (Publication Type: Case Reports, Journal Article)
• Copyright: © 2013 Chinese Orthopaedic Association and Wiley Publishing Asia Pty Ltd.

Chemical References

• CHRNG protein, human
• Receptors, Nicotinic

Topics

• Abnormalities, Multiple (diagnosis, genetics, surgery)
• Child
• Facies
• Genotype
• Humans
• Knee (abnormalities)
• Male
• Malignant Hyperthermia (diagnosis, genetics, surgery)
• Mutation
• Phenotype
• Receptors, Nicotinic (genetics)
• Skin Abnormalities (diagnosis, genetics, surgery)