title: Further delineation of a new (Van Den Ende-Gupta) syndrome of blepharophimosis contractural arachnodactyly, and characteristic face.
abstract: We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears, findings similar to those in 2 cases reported previously by Van Den Ende et al. [1992, Am J Med Genet 42:467-469] and Gupta et al. [1995, J Med Genet 32:809-812], thus delineating a new syndrome of contractural arachnodactyly with characteristic facial anomalies.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India. shubha@sgpgi.ren.nic.in
authors.forename: S R
authors.initials: SR
authors.lastname: Phadke
authors.forename: R
authors.initials: R
authors.lastname: Gulati
authors.forename: S S
authors.initials: SS
authors.lastname: Agarwal
mesh_terms: D016569:Blepharophimosis / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D003286:Contracture / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D004550:Elbow / Q000002:abnormalities / Q000000981:diagnostic imaging; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics; D011859:Radiography; D013577:Syndrome