Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis
| Autor: | Chandrasekaran Venkatesh, Sankar Prashanth, Kadirvel Karthikeyan, Nanda Chhavi |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
musculoskeletal diseases
Counseling Pediatrics medicine.medical_specialty Rhizomelic chondrodysplasia punctata prenatal diagnosis business.industry Brief Report Prenatal diagnosis Anatomy medicine.disease musculoskeletal system Punctate calcification medicine.anatomical_structure Epiphysis Genetics Medicine Femur Humerus rhizomelic chondrodysplasia punctata Tibia business Missed opportunity Genetics (clinical) |
| Zdroj: | Indian Journal of Human Genetics |
| ISSN: | 0971-6866 |
| Popis: | A male neonate was born with rhizomelic shortening of limbs. Skeletal radiograph showed punctate calcification of epiphysis of humerus, femur, and tibia. The diagnosis and a brief review of literature pertaining to the condition with emphasis on antenatal diagnosis and counseling are being reported. |
| Databáze: | OpenAIRE |
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