A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction
Autor: | Puthucode V Narayanan, HS Adenwalla, M. Pasupathy, Vasant Radhakrishnan |
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Jazyk: | angličtina |
Rok vydání: | 2016 |
Předmět: |
musculoskeletal diseases
medicine.medical_specialty Nasal bridge lcsh:Surgery Case Report SOX9 030230 surgery 03 medical and health sciences 0302 clinical medicine SOX9 gene medicine Outpatient clinic Spinal canal cleft palate Rib cage business.industry Macrocephaly 030208 emergency & critical care medicine lcsh:RD1-811 Anatomy Hypoplastic scapulae medicine.disease Surgery Campomelic dysplasia medicine.anatomical_structure Acampomelic medicine.symptom business campomelic dysplasia |
Zdroj: | Indian Journal of Plastic Surgery : Official Publication of the Association of Plastic Surgeons of India Indian Journal of Plastic Surgery, Vol 49, Iss 02, Pp 253-257 (2016) |
ISSN: | 1998-376X 0970-0358 |
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: | OpenAIRE |
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