Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cant� syndrome): A new case with unusual radiological findings
| العنوان: | Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cant� syndrome): A new case with unusual radiological findings |
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| المؤلفون: | D. Concolino, P. Strisciuglio, S. Formicola, G. Camera |
| المساهمون: | Concolino, D, Formicola, S, Camera, G, Strisciuglio, Pietro |
| المصدر: | American Journal of Medical Genetics. 92:191-194 |
| بيانات النشر: | Wiley, 2000. |
| سنة النشر: | 2000 |
| مصطلحات موضوعية: | Hypertrichosis, Cantú syndrome, medicine.medical_specialty, Long bone, Cardiomegaly, Megaepiphyses, Osteochondrodysplasias, Bone and Bones, Internal medicine, medicine, Humans, Abnormalities, Multiple, Congenital hypertrichosis, Genetics (clinical), business.industry, Bone age, Syndrome, Anatomy, medicine.disease, Osteochondrodysplasia, Radiography, medicine.anatomical_structure, Endocrinology, Child, Preschool, Radiological weapon, Female, business |
| الوصف: | We report on a new case of a syndrome first described by Cantú et al. [1982: Hum Genet 60:36-41] comprising congenital hypertrichosis, "coarse" facial appearance, and mild osteochondrodysplasia. Our case has some unusual radiological findings, namely proximal and distal megaepiphyses of long bones and advanced bone age. |
| وصف الملف: | STAMPA |
| تدمد: | 1096-8628 0148-7299 |
| DOI: | 10.1002/(sici)1096-8628(20000529)92:3<191::aid-ajmg6>3.0.co;2-k |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac5824601430cfeb67327810c4a50c3e https://doi.org/10.1002/(sici)1096-8628(20000529)92:3<191::aid-ajmg6>3.0.co;2-k |
| Rights: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....ac5824601430cfeb67327810c4a50c3e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 10968628 01487299 |
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| DOI: | 10.1002/(sici)1096-8628(20000529)92:3<191::aid-ajmg6>3.0.co;2-k |