Recessive omodysplasia: five new cases and review of the literature
- Nursel H. ElçiogluAffiliated withDepartment of Pediatric Genetics, Marmara University Hospital Email author
- , Karl H. GustavsonAffiliated withDepartment of Clinical Genetics, Uppsala University Children’s Hospital
- , Andrew O. M. WilkieAffiliated withWeatherall Institute of Molecular Medicine, John Radcliffe Hospital
- , Memune Yüksel-ApakAffiliated withInstitute of Child Health, University of Istanbul
- , Jürgen W. SprangerAffiliated withUniversitäts-Kinderklinik MainzGreenwood Genetic Center
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Autosomal recessive omodysplasia (MIM 258315) is a rare skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Fewer than 20 cases have been reported in the literature so far.
The purpose of this study was to more clearly describe the clinical and radiographic phenotypes and their changes with age.
Materials and methods
Five new patients, including two sibs, with autosomal recessive omodysplasia are presented.
Clinical features are rhizomelic dwarfism with limited extension of elbows and knees and a distinct face with a short nose, depressed nasal bridge, long philtrum, midline haemangiomas in infants and cryptorchidism in males. Radiological findings are distal hypoplasia of the short humerus and femur with characteristic radial dislocation and radioulnar diastasis.
Based on a review of these and 16 previously reported patients, the regressive nature of the humerofemoral changes and the obvious male predominance are stressed. Phenotypic similarities with the atelosteogenesis group of disorders and with diastrophic dysplasia suggest common pathogenetic mechanisms.
KeywordsSkeleton Long bone Congenital Dysplasia Omodysplasia
- Recessive omodysplasia: five new cases and review of the literature
Volume 34, Issue 1 , pp 75-82
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- 1. Department of Pediatric Genetics, Marmara University Hospital, Tophanelioglu cad 15, Altunizade, 34660 Istanbul, Turkey
- 2. Department of Clinical Genetics, Uppsala University Children’s Hospital, Uppsala, Sweden
- 3. Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK
- 4. Institute of Child Health, University of Istanbul, Istanbul, Turkey
- 5. Universitäts-Kinderklinik Mainz, Mainz, Germany
- 6. Greenwood Genetic Center, Greenwood, South Carolina, USA