口蓋裂を伴った Russell-Silver 症候群の1例  [in Japanese] Russell-Silver Syndrome with Cleft Palate : Repot of a Case  [in Japanese]

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Author(s)

    • 佐藤 公治 SATOH Koji
    • 藤田保健衛生大学医学部歯科口腔外科 Department of Oral & Maxillofacial Surgery, School of Medicine, Fujita Health University
    • 相澤 貴子 AIZAWA Takako
    • 藤田保健衛生大学医学部歯科口腔外科 Department of Oral & Maxillofacial Surgery, School of Medicine, Fujita Health University
    • 小林 義和 KOBAYASHI Yoshikazu
    • 藤田保健衛生大学医学部歯科口腔外科 Department of Oral & Maxillofacial Surgery, School of Medicine, Fujita Health University
    • 近藤 俊 KONDOH Suguru
    • 藤田保健衛生大学医学部歯科口腔外科 Department of Oral & Maxillofacial Surgery, School of Medicine, Fujita Health University
    • 今村 基尊 IMAMURA Mototaka
    • 藤田保健衛生大学医学部歯科口腔外科 Department of Oral & Maxillofacial Surgery, School of Medicine, Fujita Health University
    • 水谷 英樹 MIZUTANI Hideki
    • 藤田保健衛生大学医学部歯科口腔外科 Department of Oral & Maxillofacial Surgery, School of Medicine, Fujita Health University
    • 山田 守正 YAMADA Morimasa
    • 藤田保健衛生大学医学部麻酔・周術期管理医学講座 Department of Anesthesiology and Perioperative Medicine, School of Medicine, Fujita Health University

Abstract

【緒言】Russell- Silver症候群(以下RSSとする)は子宮内発育遅延,生後のcatch up growthを伴わない低身長,相対的大頭を伴う逆三角形の顔貌を特徴とする症候群で,顔面頭蓋の発育不全や左右非対称に起因する不正咬合に対し歯科矯正治療が行われることがあるが,口蓋裂の合併は希である。今回われわれは口蓋裂を伴ったRSSの1例を経験したので報告する。<br>【症例】患児は当センター初診時6か月の女児,2007年8月,在胎39週,正常分娩で出生,出生時体重1334g,身長39cm,Apgar score 4/8,極低出生体重児のため,翌日近市民病院小児科へ搬送された。呼吸に問題なく,心エコーでも異常は認められなかった。口蓋裂が確認されたが哺乳は可能であった。頭部CT,MRI検査が追加されたが異常所見なく,11月,体重2315gで退院となった。<br>その後経管栄養も併用されたが,体重増加は不良,口蓋裂による哺乳障害が原因と考えられ,2008年2月当センター初診となった。口蓋床を作成し,当院小児科と併診していたが,発育遅延,逆三角形の顔貌,下肢長の左右差などから,RSSが疑われた。遺伝子検査にて11番染色体短腕H19-DMRの低メチル化によるエピジェネティック変異が確認され,特徴的な臨床徴候とあわせて,RSSの診断が確定した。言語を含め発達遅延は認めなかったため,2010年9月,3歳1か月時に体重6365gで口蓋形成術を施行した。口裂狭小で開口量も少なく,挿管は可能であったが,ディングマン開口器を装着できなかった。万能開口器による強制開口で20mmの開口量が得られ,舌を牽引,圧排しながら手術を施行した。術後の合併症はなく,外来にて経過観察中である。<br>【結語】分子遺伝学的研究の進展により,RSSの多くでエピジェネティックな変異が確認されるようになり,成長発育障害の本態が明らかとされ,成長発育障害に対して成長ホルモン療法が適応されるようになった。RSS患児への口蓋裂治療では,その病態をよく理解した上での対応が重要と考えられた。

Russell- Silver syndrome (RSS) is a syndrome characterized by intrauterine growth retardation, short stature without postnatal catch up growth, inverted triangular face with relative large head. Though orthodontic treatment may be performed for the malocclusion caused by growth disturbance and right - left asymmetry of viscerocranium, cleft palate is rarely complicated.<br>We report a case of RSS with cleft palate. The patient was 6-months girl at initial visit to our center, she was born at 39 weeks gestation in August 2007. At birth, her weight was 1,334 g, her height was 39 cm, Apgar score were 4/8. Because of extremely low birth weight, she was transported to the nearest municipal hospital in the following day. She had no problem in breathing and no abnormal findings were detected in the echocardiography. Though cleft palate was confirmed, suckling was possible. No abnormal findings were detected in head CT and MR imaging. She discharged in November, 2,315 g weighted. Though tube feeding was applied, weight gain was poor. She was referred to our center in February 2008, as it was thought that poor suckling was due to cleft palate. We made palatal plate and took a wait-and-see approach with pediatricians. From the appearance of growth delay, inverted triangular face with normal head circumference, asymmetry of the length of lower limb, RSS was suspected. We had cytogenetic analyses, epigenetic mutation of the H19-DMR on chromosome 11p was identified, diagnosis of RSS were confirmed with characteristic clinical features. Development delay was not obvious including speech, so we performed palatoplasty in September 2010, when she was 3 years and 1 month old, 6,365 g in weight. Mouth breadth was narrow, opening was limited, intubation was possible, but Dingman mouth gag was inapplicable. 20mm mouth opening was obtained by forced opening with utility mouth gag, she was operated while pulling and displacing her tongue. Postoperative complications were absent, speech therapy had started. The evolving of epigenetics elucidated the pathogenesis and the way for early diagnosis for RSS. In the treatment of RSS infants with cleft palate, it was thought to be important to respond in well considering for the pathogenesis.

Journal

  • Journal of Japanese Cleft Palate Association

    Journal of Japanese Cleft Palate Association 36(3), 202-207, 2011-10-25

    Japanese Cleft Palate Association

References:  18

Cited by:  1

Codes

  • NII Article ID (NAID)
    10030795081
  • NII NACSIS-CAT ID (NCID)
    AN00188874
  • Text Lang
    JPN
  • Article Type
    Journal Article
  • ISSN
    03865185
  • Data Source
    CJP  CJPref  J-STAGE 
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