The Dyggve-Melchior-Clausen syndrome in Indian siblings.
The clinical and radiographic features of a brother and sister with the Dyggve-Melchior-Clausen syndrome are presented. These features differentiate this syndrome from other bone dysplasias causing short trunk dwarfism. In addition to the vertebral, pelvic and proximal limb defects typical of this syndrome, both these patients have more severe distal limb involvement than has been described previously. Their parents are first cousins and have four other unaffected children, which supports an autosomal recessive mode of inheritance for this syndrome. The ancestors of this kindred emigrated to South Africa from India in the 19th century.
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Department of Community Health (Genetics), Faculty of Medicine, University of Natal, South Africa.
Rubin
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D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D010375:Pedigree; D011859:Radiography; D013577:Syndrome