title: 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.affiliation: First Medical Department, Hanusch Hospital, Ludwig-Boltzmann Institute of Osteology, Hanusch Hospital of WGKK, AUVA Trauma Center Meidling, Vienna, Austria; Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kenis
authors.forename: Sergey
authors.initials: S
authors.lastname: Laptiev
authors.forename: Maher Ben
authors.initials: MB
authors.lastname: Ghachem
authors.forename: Klaus
authors.initials: K
authors.lastname: Klaushofer
authors.forename: Rudolf
authors.initials: R
authors.lastname: Ganger
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D002648:Child; D019066:Facies; D005838:Genotype; D006801:Humans; D007717:Knee / Q000002:abnormalities; D008297:Male; D008305:Malignant Hyperthermia / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D009154:Mutation; D010641:Phenotype; D011978:Receptors, Nicotinic / Q000235:genetics; D012868:Skin Abnormalities / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery
chemical_list: C539275:CHRNG protein, human; D011978:Receptors, Nicotinic
keywords: CHRNG heterozygous mutation; Congenital multiple contractures; Escobar syndrome