Mandibulo-acral dysplasia: Indian patient with severe bony changes.
We report an Indian patient with mandibulo-acral dysplasia. This patient had absence of spinous processes of 4th and 5th cervical vertebrae and very severe bony changes but no loss of teeth.
Singh
K
K
Dept. of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Phadke
S R
SR
Agarwal
S S
SS
D000328:Adult; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005532:Foot Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D005808:Genes, Recessive / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D008844:Micrognathism / Q000175:diagnosis* / Q000235:genetics; D011371:Progeria / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome