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- Kashima Koji
- Department of Oral and Maxillofacial Surgery, Faculty of Medicine, University of Miyazaki
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- Igawa Kaori
- Department of Oral and Maxillofacial Surgery, Faculty of Medicine, University of Miyazaki
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- Yokota Rie
- Department of Oral and Maxillofacial Surgery, Faculty of Medicine, University of Miyazaki
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- Yoshioka Izumi
- Department of Oral and Maxillofacial Surgery, Faculty of Medicine, University of Miyazaki
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- Sakoda Sumio
- Department of Oral and Maxillofacial Surgery, Faculty of Medicine, University of Miyazaki
この論文をさがす
抄録
Cat cry syndrome (cri-du-chat syndrome) is an extremely rare condition characterized by a high shrill cry during infancy, resulting from either the deletion of the short arm of chromosome 5 or unbalanced translocation inherited from a parent. We report the case of a 1-year-old girl with cat cry syndrome associated with cleft lip. The patient showed a ventricular septal defect, cleft lip, growth and mental retardation, micrognathia, ptosis of the eyelids, hypertelorism, epicanthal folds, and a preauricular tag on the right side. A chromosomal study revealed the terminal deletion of chromosome 5 (46, XX, del(p14.2)ish del(5)). Repair of the cleft lip was carried out concurrently with resection of the preauricular tag, and the patient's postoperative course was uneventful.
収録刊行物
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- Oral Science International
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Oral Science International 7 (2), 72-75, 2010
特定非営利活動法人 日本口腔科学会
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詳細情報 詳細情報について
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- CRID
- 1390282680199555200
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- NII論文ID
- 10027680587
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- NII書誌ID
- AA1196972X
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- ISSN
- 18814204
- 13488643
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- 本文言語コード
- en
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- データソース種別
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- JaLC
- CiNii Articles
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- 抄録ライセンスフラグ
- 使用不可