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A new familial case of spondylo-epi-metaphyseal dysplasia with multiple dislocations Hall type (leptodactylic form)
- Source :
- Clinical Dysmorphology. 14:13-18
- Publication Year :
- 2005
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2005.
-
Abstract
- We report a father and son affected by spondylo-epi-metaphyseal dysplasia with multiple dislocations (Hall type), also called leptodactylic form. This family contributes to the delineation of the clinical and radiological phenotype of this rare condition.
- Subjects :
- Adult
Male
Hand deformity
Foot Deformities, Congenital
business.industry
Spondylo epi metaphyseal dysplasia
Body height
Infant
General Medicine
Anatomy
Osteochondrodysplasias
medicine.disease
Body Height
Pathology and Forensic Medicine
MULTIPLE DISLOCATIONS
Familial case
Dysplasia
Pediatrics, Perinatology and Child Health
Humans
Medicine
business
Hand Deformities, Congenital
Genetics (clinical)
Subjects
Details
- ISSN :
- 09628827
- Volume :
- 14
- Database :
- OpenAIRE
- Journal :
- Clinical Dysmorphology
- Accession number :
- edsair.doi.dedup.....31cbf9ddd58cf35ed7ed68bc2537f0ad