Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography
Purpose. Mental retardation, mild to severe epilepsy and cerebral palsy often of hemiplegic type are common accompaniments in patients with agenesis/hypoplasia of the corpus callosum. Skeletal deformities of bilateral radiohumeral synostosis, brachydactyly, bilateral elbow dislocation, talipes equin...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Orthopedics |
| Online Access: | http://dx.doi.org/10.1155/2014/186973 |
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| author | Ali Al Kaissi Herbert Kurz Wolfgang Bock Gerald Pärtan Klaus Klaushofer Rudolf Ganger Franz Grill |
| author_facet | Ali Al Kaissi Herbert Kurz Wolfgang Bock Gerald Pärtan Klaus Klaushofer Rudolf Ganger Franz Grill |
| author_sort | Ali Al Kaissi |
| collection | DOAJ |
| description | Purpose. Mental retardation, mild to severe epilepsy and cerebral palsy often of hemiplegic type are common accompaniments in patients with agenesis/hypoplasia of the corpus callosum. Skeletal deformities of bilateral radiohumeral synostosis, brachydactyly, bilateral elbow dislocation, talipes equinovarus, and juxtacalcaneal accessory bones have been encountered in two unrelated children with agenesis of the corpus callosum. Methods. We report on two unrelated children who presented with the full clinical criteria of agenesis of the corpus callosum. Strikingly, both presented with variable upper and lower limb deformities. The clinical features, radiographic and MRI findings in our current patients, have been compared with previously reported cases identified through a PubMed literature review. Results.
Bilateral radiohumeral synostosis associated with pyruvate dehydrogenase deficiency has been encountered in one patient. The other patient manifested bilateral elbow dislocation, coxa valga, talipes equinovarus, and bilateral juxtacalcaneal accessory bones. Conclusion. The constellation of malformation complexes in our current patients have the hitherto not been reported and expanding the spectrum of skeletal deformities in connection with agenesis of the corpus callosum. |
| format | Article |
| id | doaj-art-d9302e5952d6435482bd27e734cde6bb |
| institution | OA Journals |
| issn | 2090-6749 2090-6757 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Orthopedics |
| spelling | doaj-art-d9302e5952d6435482bd27e734cde6bb2025-08-20T02:21:25ZengWileyCase Reports in Orthopedics2090-67492090-67572014-01-01201410.1155/2014/186973186973Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and RadiographyAli Al Kaissi0Herbert Kurz1Wolfgang Bock2Gerald Pärtan3Klaus Klaushofer4Rudolf Ganger5Franz Grill6Ludwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Austria-Heinrich Collin Staße, 1140 Vienna, AustriaDepartment of Neonatology, Danube Hospital, Langobardenstraße 122, 1220 Vienna, AustriaDepartment of Pediatrics, Danube Hospital, Langobardenstraße 122, 1220 Vienna, AustriaDepartment of Radiology, Danube Hospital, Langobardenstraße 122, 1220 Vienna, AustriaLudwig Boltzmann Institute of Osteology at the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Austria-Heinrich Collin Staße, 1140 Vienna, AustriaOrthopaedic Hospital of Speising, Paediatric Department, Speisinger Staße 109, 1130 Vienna, AustriaOrthopaedic Hospital of Speising, Paediatric Department, Speisinger Staße 109, 1130 Vienna, AustriaPurpose. Mental retardation, mild to severe epilepsy and cerebral palsy often of hemiplegic type are common accompaniments in patients with agenesis/hypoplasia of the corpus callosum. Skeletal deformities of bilateral radiohumeral synostosis, brachydactyly, bilateral elbow dislocation, talipes equinovarus, and juxtacalcaneal accessory bones have been encountered in two unrelated children with agenesis of the corpus callosum. Methods. We report on two unrelated children who presented with the full clinical criteria of agenesis of the corpus callosum. Strikingly, both presented with variable upper and lower limb deformities. The clinical features, radiographic and MRI findings in our current patients, have been compared with previously reported cases identified through a PubMed literature review. Results. Bilateral radiohumeral synostosis associated with pyruvate dehydrogenase deficiency has been encountered in one patient. The other patient manifested bilateral elbow dislocation, coxa valga, talipes equinovarus, and bilateral juxtacalcaneal accessory bones. Conclusion. The constellation of malformation complexes in our current patients have the hitherto not been reported and expanding the spectrum of skeletal deformities in connection with agenesis of the corpus callosum.http://dx.doi.org/10.1155/2014/186973 |
| spellingShingle | Ali Al Kaissi Herbert Kurz Wolfgang Bock Gerald Pärtan Klaus Klaushofer Rudolf Ganger Franz Grill Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography Case Reports in Orthopedics |
| title | Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography |
| title_full | Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography |
| title_fullStr | Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography |
| title_full_unstemmed | Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography |
| title_short | Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography |
| title_sort | agenesis of the corpus callosum and skeletal deformities in two unrelated patients analysis via mri and radiography |
| url | http://dx.doi.org/10.1155/2014/186973 |
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