22q11.2欠失症候群における特徴的顔貌の検討 : 三次元レーザースキャナを用いて

概要

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The DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome have similar but variable phenotypes and share the deletion of 22q11.2. The 22q11.2 deletion syndrome includes the following facial appearance: widely spaced eyes, narrow eyelids, small mouth, prominent apex nasi, flat and widened nasal dorsum. A diagnosis of this syndrome may be made based solely on facial appearance. However, a more accurate and objective evaluation is necessary as facial appearance largely depends on examiner's impressions. A 3-dimensional laser scanner with a slit laser light was used to quantitatively evaluate the facial morphology of the patient, and the effectiveness of this method in diagnosing 22q11.2 deletation syndrome was evaluated. Nine cases of 22q11.2 deletion syndrome were diagnosed from 1994 to 1997 (3 males, 6 females, age range: 4～31 years). We used a 3-dimensional curved surface measuring equipment, to measure the face 3-dimensionally, imputing data digitally. The image obtained with this method showed a reduction in the choroid fissure, with a widened dorsum nasi and the dorsum nasi inclination angle was steeper in the apex nasi than in the radix nasi. In conclusion, the facial appearance of cases of 22q11.2 deletion syndrome, such as reduction in the choroid fissure, a widened dorsum nasi and prominent apex nasi can be evaluated quantitatively.
東京女子医科大学の論文
2001-02-25