書誌事項
- タイトル別名
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- A case of Melnick-Needles syndrome
- Melnick-Needles syndrome ノ 1レイ
- A case of Mernick-Needles syndrome
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説明
Melnick-Needles syndrome (MNS) is a rare congenital X-linked syndrome associated with severe bone dysplasia, characterized by anomalous ossification, patterning of the axial and appendicular skeleton, and characteristic faces (exophthalmos, full cheeks, micrognathia, and malalignment of teeth). MNS is considered an otopalatodigital (OPD) spectrum disorder owing to overlapping clinical phenotypes. Recently, the filamin A (FLNA) gene has been reported to be a responsible gene for OPD spectrum disorders, and the region of mutations correlates with clinical phenotypes. We report a case of MNS that was diagnosed on the basis of clinical symptoms and genetic studies. An 8-year-old girl was referred to our clinic for detailed evaluation of maxillofacial skeletal abnormality. She had systematic bone dysplasia, short stature, and a characteristic facial appearance caused by micrognathia. On the basis of these clinical findings, She was suspected to have MNS. Furthermore, we definitively diagnosed MNS by demonstrating the presence of a heterozygous recurrent mutation (c.3596C>T, amino acid substitution: S1199L).
収録刊行物
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- 日本口腔外科学会雑誌
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日本口腔外科学会雑誌 61 (7), 374-378, 2015
社団法人 日本口腔外科学会
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詳細情報 詳細情報について
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- CRID
- 1390001206531181952
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- NII論文ID
- 130005107664
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- NII書誌ID
- AN00189163
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- ISSN
- 21861579
- 00215163
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- NDL書誌ID
- 026630032
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- 本文言語コード
- ja
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- データソース種別
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- JaLC
- NDL
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- 抄録ライセンスフラグ
- 使用不可