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

• Published in: Orthopaedic surgery Vol. 5; no. 4; pp. 297 - 301
• Main Authors: Al Kaissi, Ali, Kenis, Vladimir, Laptiev, Sergey, Ghachem, Maher Ben, Klaushofer, Klaus, Ganger, Rudolf, Grill, Franz
• Format: Journal Article
• Language: English
• Published: Australia Blackwell Publishing Ltd 01.11.2013; John Wiley & Sons, Inc; John Wiley and Sons Inc
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Abnormalities, Multiple - surgery; Brief Report; Child; CHRNG heterozygous mutation; Congenital multiple contractures; Escobar syndrome; Facies; Genotype; Humans; Knee - abnormalities; Male; Malignant Hyperthermia - diagnosis; Malignant Hyperthermia - genetics; Malignant Hyperthermia - surgery; Medical treatment; Mutation; Phenotype; Receptors, Nicotinic - genetics; Skin Abnormalities - diagnosis; Skin Abnormalities - genetics; Skin Abnormalities - surgery; Congenital multiple contractures; CHRNG heterozygous mutation; Escobar syndrome
• ISSN: 1757-7853; 1757-7861
• DOI: 10.1111/os.12064

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.