Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger
| Autor: | Yukihiro Hasegawa, Gen Nishimura, Masaki Takagi, Hiroko Yagi, Hülya Kayserili |
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| Rok vydání: | 2015 |
| Předmět: |
Male
business.industry Dysostosis Index finger Anatomy Hyperostosis Phalanx medicine.disease Hypoplasia Fingers Radiography body regions medicine.anatomical_structure Craniotubular Hyperostosis Child Preschool Pediatrics Perinatology and Child Health medicine Humans Radiology Nuclear Medicine and imaging Supernumerary Syndactyly Generalized osteosclerosis business Hand Deformities Congenital |
| Zdroj: | Pediatric Radiology. 45:1239-1243 |
| ISSN: | 1432-1998 0301-0449 |
| Popis: | We report a 4-year-old boy with sclerosteosis associated with severe digital dysostosis. The initial medical consultation was prompted by bilateral, asymmetrical syndactyly of the index and middle fingers. The left index finger had complicated phalangeal anomalies: hyperphalangy (supernumerary phalanx distal to the middle phalanx) and hypoplasia with bracket epiphyses of the proximal and middle phalanges. Development of facial nerve palsy, hearing impairment and generalized osteosclerosis had occurred between 3 years and 4 years of age, with the subsequent identification of a homozygous SOST mutation. Bilateral second and third fingers syndactyly associated with abnormal patterning of the same fingers should be considered prodromal signs of sclerosteosis. |
| Databáze: | OpenAIRE |
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