Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome.
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.
Girisha
K M
KM
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow 226014, India. girishkatta@gmail.com <girishkatta@gmail.com>
Cormier-Daire
Valerie
V
Heuertz
Solange
S
Phadke
Rajendra V
RV
Phadke
Shubha R
SR
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