A case of Kniest dysplasia with cleft palate

DOI Web Site 14 References
  • MATSUZAWA Yusuke
    Department of Oral and Maxillofacial Surgery, Graduate School of Dental Medicine, Hokkaido University
  • MIKOYA Tadashi
    Department of Oral and Maxillofacial Surgery, Graduate School of Dental Medicine, Hokkaido University Clinic of Stomatognathic Function, Center for Advanced Oral Medicine, Hokkaido University Hospital
  • SAITOU Hidenori
    Department of Oral and Maxillofacial Surgery, Graduate School of Dental Medicine, Hokkaido University
  • YAMAMOTO Eiji
    Department of Oral and Maxillofacial Surgery, Graduate School of Dental Medicine, Hokkaido University
  • ITOU Yumi
    Department of Oral and Maxillofacial Surgery, Graduate School of Dental Medicine, Hokkaido University
  • TOTSUKA Yasunori
    Department of Oral and Maxillofacial Surgery, Graduate School of Dental Medicine, Hokkaido University

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Other Title
  • 口蓋裂を伴ったＫｎｉｅｓｔ　ｄｙｓｐｌａｓｉａの１例
  • コウガイレツ オ トモナッタ Kniest dysplasia ノ 1レイ

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Abstract

Kniest dysplasia is a rare heritable chondrodysplasia. Its etiology is thought to involve mutations in COL2A1, the gene for collagen type II. Characteristic clinical features include short-trunk dwarfism, joint contracture, flat nose, kyphoscoliosis, myopia, and deafness. Cleft palate is frequently associated with this disease. Radiographically, platyspondyly and coronal cleft are seen in the vertebral bodies of newborns and young infants. The tubular bones are short and their ends are wide.<BR>A 5-month-old boy with Kniest dysplasia was referred to Hokkaido University Hospital because of poor suckling and cleft palate. A Hotz type plate was applied to improve feeding problems. The patient was weaned, and a gastric feeding tube was removed 5 months after plate application. Because speech development was delayed, he underwent palatoplasty at the age of 2 years 8 months. After surgery, there were no maladaptative speech patterns due to poor nasopharyngeal function. As for development of the facial skeleton, growth of the anterior cranial base was severely lmited. The cranial base angle was flattened, and the maxilla and mandible were retropositioned relative to the anterior cranial base. However, the antero-posterior relation of the jaws was normal.

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