Ippel P F, Gorlin R J, Lenz W, van Doorne J M, Bijlsma J B
Clinical Genetics Center, State University Utrecht, The Netherlands.
Am J Med Genet. 1992 Nov 1;44(4):518-22. doi: 10.1002/ajmg.1320440428.
We report clinical, orofacial and radiological manifestations in a 4-year-old girl and a 33-year-old female with the Gorlin-Chaudhry-Moss (GCM) syndrome. Typical findings in the GCM syndrome are short stature, stocky body build, midface hypoplasia, small eyes, downslanting palpebral fissures, conductive hearing loss, highly arched and narrow palate, malocclusion, abnormally shaped teeth, oligodontia, microdontia, low scalp hairline, hypertrichosis of scalp, face, trunk and limbs and genital hypoplasia. Radiological features include premature synostosis of the coronal suture, brachycephaly, and maxillary under-development. Hypoplasia of the distal phalanges of fingers and toes (also present in the 2 original cases) represents a further manifestation of the GCM syndrome.
我们报告了一名4岁女孩和一名33岁女性患有戈林-乔德里-莫斯（GCM）综合征的临床、口腔面部及放射学表现。GCM综合征的典型表现为身材矮小、体型矮胖、面中部发育不全、小眼睛、睑裂向下倾斜、传导性听力损失、高拱且狭窄的腭、错牙合、牙齿形状异常、缺牙、小牙、低头皮发际线、头皮、面部、躯干和四肢多毛以及生殖器发育不全。放射学特征包括冠状缝过早骨化、短头畸形和上颌骨发育不足。手指和脚趾远端指骨发育不全（最初的2例病例中也有此表现）是GCM综合征的另一种表现。
