Acromesomelic dysplasia (Marotaeux type) associated with craniovertebral junction anomaly: A report of a rare case and review of literature
| العنوان: | Acromesomelic dysplasia (Marotaeux type) associated with craniovertebral junction anomaly: A report of a rare case and review of literature |
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| المؤلفون: | Arun Kumar Srivastava, Kumar Ashish, Anant Mehotra, Jayesh Sardhara, Kuntal Kanti Das |
| المصدر: | Indian Journal of Neurosurgery, Vol 03, Iss 02, Pp 106-109 (2014) |
| بيانات النشر: | Georg Thieme Verlag KG, 2017. |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, lcsh:Surgery, Kyphosis, 030105 genetics & heredity, Os Odontoideum, Short stature, lcsh:RC346-429, surgery, 03 medical and health sciences, medicine, craniovertebral junction, lcsh:Neurology. Diseases of the nervous system, Foramen magnum, acromesomyelia, business.industry, lcsh:RD1-811, Anatomy, medicine.disease, Osteochondrodysplasia, Hydrocephalus, medicine.anatomical_structure, Acromesomelic dysplasia Maroteaux type, medicine.symptom, business, marotaeux variant, Syringomyelia |
| الوصف: | 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. |
| تدمد: | 2277-9167 2277-954X |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aa332f9ced12eeed8bccf0b773b6273Test https://doi.org/10.4103/2277-9167.138919Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4aa332f9ced12eeed8bccf0b773b6273 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 22779167 2277954X |
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