Case Reports
doi: 10.1002/ajmg.1320210214.
Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome
- PMID: 4014313
- DOI: 10.1002/ajmg.1320210214
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Case Reports
Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome
Am J Med Genet.
1985 Jun.
Abstract
We report on two sibs born to consanguineous parents with clinical and radiological features closely resembling those previously described by Insley and Astley [1974]. This observation provides further evidence for a distinct autosomal recessive condition with the facial appearance of Marshall syndrome, deafness, and skeletal dysplasia.
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