How to provide a genetic counseling in a simple case of antenatal diagnosis of achondroplasia
| العنوان: | How to provide a genetic counseling in a simple case of antenatal diagnosis of achondroplasia |
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| المؤلفون: | Simona Vlădăreanu, Viorica Radoi, L.C. Bohîlțea, Roxana Bohiltea, Monica Cirstoiu |
| المصدر: | Gineco.eu. 12:56-58 |
| بيانات النشر: | Gineco.EU, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pediatrics, business.industry, Genetic counseling, Genetic disorder, Obstetrics and Gynecology, Dwarfism, medicine.disease, Short stature, Hypoplasia, Surgery, Frontal Bossing, Oncology, Midface retrusion, medicine, Achondroplasia, medicine.symptom, business |
| الوصف: | Achondroplasia is the most common form of inherited disproportionate short stature. Affected individuals have short arms and legs, a large head, and characteristic facial features with frontal bossing and midface retrusion, formerly known as midface hypoplasia. Mode of inheritance of achondroplasia is autosomal dominant. Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia. The G380R mutation accounts for 98% of the achondroplasia cases. Here we review the ultrasound, radiographic and clinical features, genetic aspects and molecular pathogenesis of the most common form of dwarfism in humans, providing a model of genetic counseling given to a family with an antenatal diagnosis of a fetal genetic disorder, due to a novel mutation, as a part of the feto-maternal diagnostic strategy. |
| تدمد: | 2537-110X 2344-2379 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::6502532efd760266fc55b6c0a00b1b93Test https://doi.org/10.18643/gieu.2016.56Test |
| رقم الانضمام: | edsair.doi...........6502532efd760266fc55b6c0a00b1b93 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 2537110X 23442379 |
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