A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction
| Autor: | M. Pasupathy, Vasant Radhakrishnan, Hirji Sorab Adenwalla, Puthucode V. Narayanan |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Indian Journal of Plastic Surgery, Vol 49, Iss 02, Pp 253-257 (2016) |
| Druh dokumentu: | article |
| ISSN: | 0970-0358 1998-376X |
| DOI: | 10.4103/0970-0358.191310 |
| Popis: | Acampomelic campomelic dysplasia (CD) is a type of CD (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism and is due to mutations in SOX9 gene family. Characteristic phenotypes of CD include bowing of the lower limbs, a narrow thoracic cage, 11 pairs of ribs, hypoplastic scapulae, macrocephaly, flattened supraorbital ridges and nasal bridge, cleft palate and micrognathia. The bending of the long bones is not an obligatory feature and is absent in about 10% of cases, referred to as acampomelic CD. A child previously diagnosed with acampomelic CD was brought to our outpatient clinic for cleft palate reconstruction. Our neurosurgeon cautioned us against performing surgery with extension of the neck in view of the possibility of producing quadriparesis, due to narrowing of the spinal canal as part of the osseous anomaly noted in the magnetic resonance imaging study of the spine, thus making the anaesthesia, surgical and post-operative procedures difficult. The cleft palate reconstruction was performed with all precautions and was uneventful. |
| Databáze: | Directory of Open Access Journals |
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