Campomelic dysplasia (CMPD) is a rare congenital skeletal disorder caused by SOX9 mutations. The patients are often accompanied by craniofacial and oral anomalies such as characteristic facial appearance and cleft palate. In spite of possibility of perinatal lethality, some patients could survive with milder phenotype and appropriate medical treatment. Such patients might cause critical issues in feeding and require oral management. However, there has been less information about oral surgical treatment in CMPD patients. Here, we describe our recent experience of diagnosis and cleft palate repair in a CMPD patient. A 27 month old Japanese female presenting typical CMPD phenotypes was genetically determined and a SOX9Q175Stop mutation was identified. The protein analysis demonstrated that SOX9Q175Stop mutation yields the truncated protein lacking the transactivation site. The affected infant had serious respiratory distress and always required control by an artificial ventilator. Cleft palate reconstruction under general anesthesia was performed to improve her feeding and oral functions. Modified Furlow palatoplasty was applied to minimize surgical invasion in which only a unilateral relaxation incision was designed. Artificial skin material was used to support fragile soft palate tissue. Although there was some risk to cause any serious respiratory issue, her SpO2 was maintained well through the perioperative period. Our case report might provide valuable information for syndromic cleft palate treatments.
|ジャーナル||Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology|
|出版ステータス||Published - 3月 2019|
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