@article{oai:twinkle.repo.nii.ac.jp:00017584,
 author = {YAMAZAKI, Takashi and HIRAOKA, Osamu and OGIUCHI, Hideki and OSAWA, Makiko and MOMMA, Kazuo},
 issue = {7/8},
 journal = {東京女子医科大学雑誌},
 month = {Aug},
 note = {CATCH 22は,cardiac defect,abnormal face,thymic hypoplasia,cleft palate,hypocalcemia,22q11 deletionの略で,従来の疾患であるDiGeorge症候群,円錐動脈幹異常顔貌症候群,velo-cardio-facial症候群が染色体22番q11.2の微細欠失により生じることが確定されたため,それら22q11.2欠失による症候群に対して命名された疾患である.本疾患は顔貌の異常が特徴の一つでありながら,口腔顎顔面領域の形態学的研究の報告は,国内外を渉猟してもみられない.そこでわれわれは本症例に対し,頭部X線規格写真分析を中心とした口腔顎顔面領域の検討を行なったので報告する.対象は当院附属日本心臓血圧研究所小児科でCATCH22と確定診断された10例(平均15歳)であり,頭部X線規格写真分析はRicketts法で行なった.分析の結果は,次のとおりである.1.L1-APO,∠L1-APO,MA,UM-PTV,PTA,CLなどに異常が多く,日本人平均値と比較しL1-AP0,∠L1-AP0,CLA,PLに有意差が認められた.2.対照群と比較すると,MP,PTA,∠L1-AP0,PFH,CLに有意差が認められた.3.顔貌形態では長顔型が5例と半数を占め,顔貌上の特徴として,上顎前突,下顎前突,開咬,下顎前歯唇側傾斜などが示唆された.4.舌骨の形成不全が全例,頸椎の形成不全,口蓋裂(術後)が4例,小口症が2例,エナメル質形成不全が1例認められた.またこれらの口腔顎顔面領域の形態学的異常は,発生初期の第1,第2鰓弓の形成異常が関与していると考えられた., CATCH 22 is the concept of a new disease proposed by Wilson and coworkers in 1993, and is an acronym for cardiac defect, abnormal face, thymic hypoplasia, cleft palate, hypocalcemia, and 22q11 deletion. The disease, CATCH 22, is characterized by 22q11.2 microdeletions, because chromosome 22q11.2 microdeletions have been confirmed as the cause of the previously known group of diseases; DiGeorge syndrome, conotruncal anomaly face syndrome, and velo-cardio-facial syndrome. We therefore conducted a study of the oral and maxillofacial area in this disease centered on an analysis of cephalometric radiograms of the head. The subjects were a total of 10 patients (mean: 15 years), and the Ricketts method was used in the analysis of the cephalometric radiograms. As a result, in the classification of facial pattern, the dolicofacial pattern was seen in 5 cases, and maxillary protrusion, mandibular protrusion or overgrowth downward, open bite, and labial inclination of the lower incisors were suggested characteristic facial findings of CATCH 22. Malformations of the first and second branchial arches during early embryonic development appeared to contribute to the morphological abnormalities of the oral and maxillofacial area in cases of CATCH 22.},
 pages = {367--380},
 title = {A Cephalometric Study of the Oral and Maxillofacial Area in Cases of CATCH 22},
 volume = {69},
 year = {1999}
}