Autosomal recessive omodysplasia: report of three additional cases
| Autor: | Kazimierz Kozlowski, Péter Kiss, J. Masel |
|---|---|
| Rok vydání: | 1998 |
| Předmět: |
Male
Pathology medicine.medical_specialty Limb Deformities Congenital Genes Recessive Consanguinity Osteochondrodysplasias Dislocated radius Craniosynostosis Craniosynostoses Humans Medicine Abnormalities Multiple Radiology Nuclear Medicine and imaging business.industry Autosomal recessive omodysplasia Limb shortening Infant Newborn Facies Infant medicine.disease Osteochondrodysplasia Dermatology Radiography Dysplasia Micromelia Pediatrics Perinatology and Child Health Female business |
| Zdroj: | Pediatric Radiology. 28:608-611 |
| ISSN: | 1432-1998 0301-0449 |
| DOI: | 10.1007/s002470050428 |
| Popis: | Three new cases of autosomal recessive omodysplasia (ARO) are reported. One shows a new finding of craniosynostosis. One is related to a patient previously reported in 1991. Another is the first report of a patient living in Australia. The clinical and radiological findings further consolidate the condition as a distinct and readily diagnosable autosomal recessive bone dysplasia with marked limb shortening and facial abnormalities. These cases bring the total reported to 17. Names used in earlier publications include rhizomelic bone dysplasia with club-like femora, familial generalised micromelia with dislocated radius and congenital micromelic dysplasia (Borochowitz type). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink