Metaphyseal anadysplasia in two sisters
| Autor: | I. Vanthournout, M. Mathieu, B. Baratte, Y. Grumbach, J. Al Hosri, I. Dehouck, M. Slama |
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| Rok vydání: | 1999 |
| Předmět: |
Pathology
medicine.medical_specialty Pediatrics Metaphyseal chondrodysplasia Limb Deformities Congenital Osteochondrodysplasias Nuclear Family Pelvis Diagnosis Differential Humans Medicine Radiology Nuclear Medicine and imaging Metaphyseal anadysplasia Sibling Natural course business.industry Genetic heterogeneity Infant medicine.disease Osteochondrodysplasia Radiography Normal stature Cartilage Pediatrics Perinatology and Child Health Female business Follow-Up Studies |
| Zdroj: | Pediatric Radiology. 29:372-375 |
| ISSN: | 1432-1998 0301-0449 |
| DOI: | 10.1007/s002470050610 |
| Popis: | Metaphyseal anadysplasia is a rare form of metaphyseal chondrodysplasia with well-defined radiological abnormalities. The prognosis is good as the natural course results in regression of the lesions with normal stature in adulthood. The few reported cases, exclusively in male children, indicated possible X-linked recessive transmission. The documentation of two affected sisters suggests genetic heterogeneity or another mode of inheritance. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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