Patterson–Lowry rhizomelic dysplasia: Report of two new patients
| العنوان: | Patterson–Lowry rhizomelic dysplasia: Report of two new patients |
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| المؤلفون: | D. Licata, Piergiorgio Franceschini, G. Ingrosso, D. Franceschini, G. Di Cara, Andrea Guala |
| المصدر: | American Journal of Medical Genetics Part A. :86-92 |
| بيانات النشر: | Wiley, 2003. |
| سنة النشر: | 2003 |
| مصطلحات موضوعية: | Male, medicine.medical_specialty, animal structures, Adolescent, Rhizomelic Dysplasia, Coxa vara, Pelvis, Internal medicine, Genetics, medicine, Humans, Femur, Child, Genetics (clinical), Bone Diseases, Developmental, Tibia, business.industry, Syndrome, Anatomy, Humerus, Phalanx, medicine.disease, Spine, Radiography, Short metacarpal, Endocrinology, Dysplasia, Female, medicine.symptom, Patterson-Lowry rhizomelic dysplasia, business, Hand Deformities, Congenital |
| الوصف: | We report two new patients with the Patterson-Lowry rhizomelic dysplasia characterized by very short humeri, coxa vara with proximal femoral epiphyseal involvement, short metacarpals, metatarsals and phalanges. The expression of clinical and radiological characteristics is significantly variable, but the unique proximal metaepiphyseal appearance of humeri makes the syndrome easily identifiable. All the reported patients are sporadic. The genetics of the syndrome remain unclear for the moment. |
| تدمد: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.20638 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4ee488a91d654c12130731b0860cbf9 https://doi.org/10.1002/ajmg.a.20638 |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....b4ee488a91d654c12130731b0860cbf9 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15524833 15524825 |
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| DOI: | 10.1002/ajmg.a.20638 |