Acromesomelic dysplasia (Marotaeux type) associated with craniovertebral junction anomaly: A report of a rare case and review of literature
Acromesomelic dysplasia Maroteaux type (AMDM) is a rare autosomal recessive osteochondrodysplasia. The responsible gene, AMDM gene, in human beings, has been mapped on 9p13-q12 chromosome by homozygous mapping and pathogenic mutation was later identified in natriuretic receptor B (NPR-B) which has b...
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| Format: | Article |
| Language: | English |
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Thieme Medical Publishers, Inc.
2014-05-01
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| Series: | Indian Journal of Neurosurgery |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.4103/2277-9167.138919 |
| _version_ | 1818159126645047296 |
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| author | Jayesh C. Sardhara Kumar Ashish Anant Mehotra Arun K. Srivastava Kuntal K. Das |
| author_facet | Jayesh C. Sardhara Kumar Ashish Anant Mehotra Arun K. Srivastava Kuntal K. Das |
| author_sort | Jayesh C. Sardhara |
| collection | DOAJ |
| description | Acromesomelic dysplasia Maroteaux type (AMDM) is a rare autosomal recessive osteochondrodysplasia. The responsible gene, AMDM gene, in human beings, has been mapped on 9p13-q12 chromosome by homozygous mapping and pathogenic mutation was later identified in natriuretic receptor B (NPR-B) which has been implicated in the regulation of skeletal growth. Till now, around 40 to 50 cases of AMDM have been described in the world literature. Association of the congenital craniovertebral (CV) junction anomaly has not been reported. Here we are presenting a case of AMDM, with CV junction anomaly. A 10-year boy presented with short stature (122 cm) with short distal limbs, symptomatic for thoracic kyphoscoliosis with back pain. On examination there were no neurological deficits. On radiological investigation, he was found to have short and broad phalanges and toes, thoracic kyphoscoliosis, abnormal pelvic ring, mild ventriculomegaly, cervical syringomyelia and tonsillar descent below foramen magnum, hydrocephalus, os odontoideum with Klippel-Feil anomaly. This was diagnosed as AMDM with congenital os odontoideum, Klippel-Feil anomaly with Arnold-Chiari malformation (ACM) type-1. The patient underwent posterior fossa decompression by removal of foramen magnum ring along with C1 arch for ACM type-1. Kyphosis was left for conservative treatment till further observation and required orthopedic correction in his further age. To the best of our knowledge this is a very rare entity of AMDM with congenital CV junction anomaly. |
| first_indexed | 2024-12-11T15:41:02Z |
| format | Article |
| id | doaj.art-3df6508d7282416ab638668c14774d48 |
| institution | Directory Open Access Journal |
| issn | 2277-954X 2277-9167 |
| language | English |
| last_indexed | 2024-12-11T15:41:02Z |
| publishDate | 2014-05-01 |
| publisher | Thieme Medical Publishers, Inc. |
| record_format | Article |
| series | Indian Journal of Neurosurgery |
| spelling | doaj.art-3df6508d7282416ab638668c14774d482022-12-22T00:59:48ZengThieme Medical Publishers, Inc.Indian Journal of Neurosurgery2277-954X2277-91672014-05-01030210610910.4103/2277-9167.138919Acromesomelic dysplasia (Marotaeux type) associated with craniovertebral junction anomaly: A report of a rare case and review of literatureJayesh C. SardharaKumar AshishAnant MehotraArun K. SrivastavaKuntal K. DasAcromesomelic dysplasia Maroteaux type (AMDM) is a rare autosomal recessive osteochondrodysplasia. The responsible gene, AMDM gene, in human beings, has been mapped on 9p13-q12 chromosome by homozygous mapping and pathogenic mutation was later identified in natriuretic receptor B (NPR-B) which has been implicated in the regulation of skeletal growth. Till now, around 40 to 50 cases of AMDM have been described in the world literature. Association of the congenital craniovertebral (CV) junction anomaly has not been reported. Here we are presenting a case of AMDM, with CV junction anomaly. A 10-year boy presented with short stature (122 cm) with short distal limbs, symptomatic for thoracic kyphoscoliosis with back pain. On examination there were no neurological deficits. On radiological investigation, he was found to have short and broad phalanges and toes, thoracic kyphoscoliosis, abnormal pelvic ring, mild ventriculomegaly, cervical syringomyelia and tonsillar descent below foramen magnum, hydrocephalus, os odontoideum with Klippel-Feil anomaly. This was diagnosed as AMDM with congenital os odontoideum, Klippel-Feil anomaly with Arnold-Chiari malformation (ACM) type-1. The patient underwent posterior fossa decompression by removal of foramen magnum ring along with C1 arch for ACM type-1. Kyphosis was left for conservative treatment till further observation and required orthopedic correction in his further age. To the best of our knowledge this is a very rare entity of AMDM with congenital CV junction anomaly.http://www.thieme-connect.de/DOI/DOI?10.4103/2277-9167.138919acromesomyeliacraniovertebral junctionmarotaeux variantsurgery |
| spellingShingle | Jayesh C. Sardhara Kumar Ashish Anant Mehotra Arun K. Srivastava Kuntal K. Das Acromesomelic dysplasia (Marotaeux type) associated with craniovertebral junction anomaly: A report of a rare case and review of literature Indian Journal of Neurosurgery acromesomyelia craniovertebral junction marotaeux variant surgery |
| title | Acromesomelic dysplasia (Marotaeux type) associated with craniovertebral junction anomaly: A report of a rare case and review of literature |
| title_full | Acromesomelic dysplasia (Marotaeux type) associated with craniovertebral junction anomaly: A report of a rare case and review of literature |
| title_fullStr | Acromesomelic dysplasia (Marotaeux type) associated with craniovertebral junction anomaly: A report of a rare case and review of literature |
| title_full_unstemmed | Acromesomelic dysplasia (Marotaeux type) associated with craniovertebral junction anomaly: A report of a rare case and review of literature |
| title_short | Acromesomelic dysplasia (Marotaeux type) associated with craniovertebral junction anomaly: A report of a rare case and review of literature |
| title_sort | acromesomelic dysplasia marotaeux type associated with craniovertebral junction anomaly a report of a rare case and review of literature |
| topic | acromesomyelia craniovertebral junction marotaeux variant surgery |
| url | http://www.thieme-connect.de/DOI/DOI?10.4103/2277-9167.138919 |
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