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The Dyggve-Melchior-Clausen syndrome in Indian siblings
- Source :
- Clinical Genetics. 42:240-245
- Publication Year :
- 2008
- Publisher :
- Wiley, 2008.
-
Abstract
- 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.
- Subjects :
- Adult
Male
medicine.medical_specialty
Adolescent
Limb defects
Bone Dysplasias
Dwarfism
Sister
Diagnosis, Differential
Intellectual Disability
Internal medicine
Genetics
medicine
Humans
Genetics (clinical)
Dyggve-Melchior-Clausen syndrome
Bone Diseases, Developmental
business.industry
Syndrome
Anatomy
medicine.disease
Osteochondrodysplasia
Pedigree
Distal limb
Radiography
body regions
Endocrinology
Female
Differential diagnosis
business
Subjects
Details
- ISSN :
- 13990004 and 00099163
- Volume :
- 42
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi.dedup.....dffd3ac5731e7b937dc7d5bafd58fa5c