1. 116 A Lethal Skeletal Dysplasia Resembling Desbuquois Dysplasia
- Author
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D. R. Witt, Denise Salazar, Fiona M. Field, Ralph S. Lachman, V. K. Agarwal, William R. Wilcox, David L. Rimoin, and K. K. Bui
- Subjects
Pathology ,medicine.medical_specialty ,Lethal skeletal dysplasia ,Locus (genetics) ,General Medicine ,Anatomy ,Biology ,Thumb ,Ossification center ,medicine.disease ,Short stature ,General Biochemistry, Genetics and Molecular Biology ,body regions ,Tarsal Bone ,medicine.anatomical_structure ,Dysplasia ,medicine ,Desbuquois Dysplasia ,medicine.symptom - Abstract
Desbuquois dysplasia is a rare form of short limb dwarfism with autosomal recessive inheritance characterized by severe short stature of prenatal onset, joint laxity, facial dysmorphic features, spur-like projections of the proximal femora (“Swedish key” or “monkey wrench”), mild vertebral and epiphyseal abnormalities, and advanced carpal and tarsal bone age. Cases may be divided into two groups depending on whether or not typical hand abnormalities are present, which include an extra ossification center distal to the second metacarpal and/or a delta phalanx of the thumb. A recent genome-wide search in four inbred Desbuquois families with typical hand abnormalities demonstrated linkage to chromosome 17q25.3. Exclusion of the 17q25.3 locus in the clinical subtype of Desbuquois dysplasia without typical hand anomalies in three inbred families was subsequently reported. We report a new family of at least four siblings and one first cousin affected with a lethal Desbuquois-like dysplasia with typical hand abnormalities. Further genomic analysis excludes linkage to chromosome 17q25.3 in this family.
- Published
- 2006