A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction
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, ma...
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Thieme Medical and Scientific Publishers Pvt. Ltd.
2016-05-01
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| Series: | Indian Journal of Plastic Surgery |
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| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.4103/0970-0358.191310 |
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| author | M. Pasupathy Vasant Radhakrishnan Hirji Sorab Adenwalla Puthucode V. Narayanan |
| author_facet | M. Pasupathy Vasant Radhakrishnan Hirji Sorab Adenwalla Puthucode V. Narayanan |
| author_sort | M. Pasupathy |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-0a47e909bb194955a3f9efb84f115bd2 |
| institution | DOAJ |
| issn | 0970-0358 1998-376X |
| language | English |
| publishDate | 2016-05-01 |
| publisher | Thieme Medical and Scientific Publishers Pvt. Ltd. |
| record_format | Article |
| series | Indian Journal of Plastic Surgery |
| spelling | doaj-art-0a47e909bb194955a3f9efb84f115bd22025-08-20T03:17:27ZengThieme Medical and Scientific Publishers Pvt. Ltd.Indian Journal of Plastic Surgery0970-03581998-376X2016-05-01490225325710.4103/0970-0358.191310A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstructionM. Pasupathy0Vasant Radhakrishnan1Hirji Sorab Adenwalla2Puthucode V. Narayanan3The Charles Pinto Centre for Cleft Lip, Palate and Craniofacial Anomalies, Jubilee Mission Medical College and Research InstituteThe Charles Pinto Centre for Cleft Lip, Palate and Craniofacial Anomalies, Jubilee Mission Medical College and Research InstituteDepartment of Plastic Surgery, Burns and The Charles Pinto Centre for Cleft Lip, Palate and Craniofacial Anomalies, Jubilee Mission Medical College and Research Institute, Trissur, Kerala, IndiaThe Charles Pinto Centre for Cleft Lip, Palate and Craniofacial Anomalies, Jubilee Mission Medical College and Research InstituteAcampomelic 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.http://www.thieme-connect.de/DOI/DOI?10.4103/0970-0358.191310acampomeliccampomelic dysplasiacleft palate sox9 gene |
| spellingShingle | M. Pasupathy Vasant Radhakrishnan Hirji Sorab Adenwalla Puthucode V. Narayanan A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction Indian Journal of Plastic Surgery acampomelic campomelic dysplasia cleft palate sox9 gene |
| title | A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction |
| title_full | A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction |
| title_fullStr | A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction |
| title_full_unstemmed | A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction |
| title_short | A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction |
| title_sort | case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction |
| topic | acampomelic campomelic dysplasia cleft palate sox9 gene |
| url | http://www.thieme-connect.de/DOI/DOI?10.4103/0970-0358.191310 |
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