Autosomal recessive deafness with skeletal dysplasia and facial appearance of Marshall syndrome.
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.
D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D003638:Deafness / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008297:Male; D009295:Nasal Bone / Q000002:abnormalities; D013577:Syndrome