Early transvaginal ultrasonographic diagnosis of Beemer-Langer dysplasia: a report of two cases
| Autor: | P. van de Weg, J. A. M. Laudy, J. W. Wladimiroff, N. S. Den Hollander, H. J. van der Harten |
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| Rok vydání: | 1998 |
| Předmět: |
medicine.medical_specialty
Radiological and Ultrasound Technology Polydactyly business.industry education Neural tube Obstetrics and Gynecology General Medicine Consanguinity medicine.disease Osteochondrodysplasia food.food Surgery food medicine.anatomical_structure Reproductive Medicine Obstetrics and gynaecology Short limbs Dysplasia Medicine Radiology Nuclear Medicine and imaging Radiology business Short ribs |
| Zdroj: | Ultrasound in Obstetrics and Gynecology. 11:298-302 |
| ISSN: | 0960-7692 |
| Popis: | The early second-trimester sonographic diagnosis of two infants with short rib (polydactyly) dysplasia type IV (Beemer-Langer dysplasia) is presented. In addition to short ribs, this syndrome is characterized by short limbs with or without polydactyly. There are often associated defects, particularly neural tube anomalies. The occurrence of consanguinity and of four affected siblings in this family support autosomal recessive inheritance. Copyright © 1998 International Society of Ultrasound in Obstetrics and Gynecology |
| Databáze: | OpenAIRE |
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