title: Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome.
abstract: Dyggve-Melchior-Clausen syndrome is a rare variety of spondyloepimetaphyseal dysplasia which often resembles Morquio syndrome. We describe two siblings from India with the condition and report a novel homozygous mutation in them (c.1172_1173insC). One of them had atlantoaxial dislocation.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India. girishkatta@gmail.com <girishkatta@gmail.com>
authors.forename: K M
authors.initials: KM
authors.lastname: Girisha
authors.forename: Valerie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Solange
authors.initials: S
authors.lastname: Heuertz
authors.forename: Rajendra V
authors.initials: RV
authors.lastname: Phadke
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
mesh_terms: D000328:Adult; D001268:Atlanto-Axial Joint / Q000002:abnormalities*; D005260:Female; D006720:Homozygote; D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D035781:Siblings; D013577:Syndrome