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Desbuquois syndrome: Clinical, radiographic, and morphologic characterization
- Source :
- American Journal of Medical Genetics. 52:9-18
- Publication Year :
- 1994
- Publisher :
- Wiley, 1994.
-
Abstract
- To further characterize the clinical, radiographic and chondro-osseous morphologic changes in the Desbuquois syndrome, 7 patients from three sibships are described. They all had prenatal onset severe rhizomelic and mesomelic shortness with marked joint laxity and marked micrognathia. Radiographic changes were distinct, consisting of a supernumerary ossification center between the proximal phalanx of the index finger and the second metacarpal, and variable thumb changes. The femoral necks showed enlargement of the lesser trochanter with metaphyseal beaking, producing a characteristic “monkey wrench” (Swedish key) appearance. Growth plate cartilage showed dilated cisterns of rough endoplasmic reticulum in reserve zone chondrocytes. Three of the 7 cases were diagnosed prenatally by second trimester ultrasound and one case by fetoscopy. This syndrome exhibits significant phenotypic variability and must be differentiated from the Catel-Manzke syndrome which exhibits similar radiographic changes in the hands. © 1994 Wiley-Liss, Inc.
- Subjects :
- Joint Instability
Male
Adolescent
Radiography
Dwarfism
Thumb
Ossification center
Bone and Bones
Fetoscopy
medicine
Humans
Supernumerary
Growth Plate
Genetics (clinical)
Inclusion Bodies
medicine.diagnostic_test
business.industry
Infant
Syndrome
Anatomy
Index finger
medicine.disease
Osteochondrodysplasia
medicine.anatomical_structure
Lesser Trochanter
Child, Preschool
Female
business
Subjects
Details
- ISSN :
- 10968628 and 01487299
- Volume :
- 52
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics
- Accession number :
- edsair.doi.dedup.....459c909265d941552af6b742248753f5