Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome
Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and ap...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2018/5189062 |
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| author | Corina Ramona Nicolescu Laura Kasongo Léon Rausin |
| author_facet | Corina Ramona Nicolescu Laura Kasongo Léon Rausin |
| author_sort | Corina Ramona Nicolescu |
| collection | DOAJ |
| description | Trichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up. A 14-year-old boy presented with short stature and distinctive facial features, and following the first clinical and biological evaluation, no precise diagnosis was reached. Progressive bilateral development of noninflammatory and painless deformity of his second finger required a radiological exam that highlighted the key elements (cone-shaped epiphyses) for final diagnosis. This case illustrates the difficulties to early recognition of TRPS when the clinical presentation is not complete and radiological findings are missing. |
| format | Article |
| id | doaj-art-2803a94c68e841458a2de5a9825d9d4d |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-2803a94c68e841458a2de5a9825d9d4d2025-02-03T06:07:27ZengWileyCase Reports in Pediatrics2090-68032090-68112018-01-01201810.1155/2018/51890625189062Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal SyndromeCorina Ramona Nicolescu0Laura Kasongo1Léon Rausin2Division of Endocrinology and Diabetes, Department of Pediatrics, University of Liege, Centre Hospitalier Regional de la Citadelle, Bld du 12eme de Ligne 1, 4000 Liege, BelgiumDivision of Endocrinology and Diabetes, Department of Pediatrics, University of Liege, Centre Hospitalier Regional de la Citadelle, Bld du 12eme de Ligne 1, 4000 Liege, BelgiumRadiology Department, University of Liege, Centre Hospitalier Regional de la Citadelle, Bld du 12eme de Ligne 1, 4000 Liege, BelgiumTrichorhinophalangeal syndrome (TRPS), a type of skeletal dysplasia, is characterized by a triad of dysmorphic (bulbous nose and large ears); ectodermal (thin and sparse hair); and skeletal (short stature and cone-shaped epiphyses) findings, and this combination is helpful for early diagnosis and appropriate follow-up. A 14-year-old boy presented with short stature and distinctive facial features, and following the first clinical and biological evaluation, no precise diagnosis was reached. Progressive bilateral development of noninflammatory and painless deformity of his second finger required a radiological exam that highlighted the key elements (cone-shaped epiphyses) for final diagnosis. This case illustrates the difficulties to early recognition of TRPS when the clinical presentation is not complete and radiological findings are missing.http://dx.doi.org/10.1155/2018/5189062 |
| spellingShingle | Corina Ramona Nicolescu Laura Kasongo Léon Rausin Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome Case Reports in Pediatrics |
| title | Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome |
| title_full | Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome |
| title_fullStr | Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome |
| title_full_unstemmed | Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome |
| title_short | Dysmorphic Short Stature: Radiological Diagnosis of Trichorhinophalangeal Syndrome |
| title_sort | dysmorphic short stature radiological diagnosis of trichorhinophalangeal syndrome |
| url | http://dx.doi.org/10.1155/2018/5189062 |
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