面容异常、近视和身材矮小。
Abnormal facies, myopia, and short stature.
作者信息
Keith C G, Dobbs R H, Shaw D G, Cottrall K
出版信息
Arch Dis Child. 1972 Oct;47(255):787-93. doi: 10.1136/adc.47.255.787.
Three members of a family are described who have a curious facies due to a severely depressed nasal bridge, anteverted nostrils, wide-set eyes, high myopia, and short stature. The facial appearance is due to faulty development of the ethmoid bone, which also causes a short anterior cranial fossa. One member of the family was autistic and had a cleft palate. These cases closely resemble, but are thought to be distinct from, a family described by Marshall (1958) whose members had a similar facies which appeared to be due to a defective maxilla, deafness, myopia, and cataracts which were subject to many complications. One further case is described resembling Marshall's cases even more closely; she is deaf but does not have cataracts.
本文描述了一个家族的三名成员，他们因鼻梁严重凹陷、鼻孔前倾、眼距过宽、高度近视和身材矮小而面容奇特。面部外观是由于筛骨发育不良所致，这也导致了前颅窝短小。该家族的一名成员患有自闭症且腭裂。这些病例与马歇尔（1958年）描述的一个家族极为相似，但又被认为有所不同，马歇尔家族成员有类似的面容，似乎是由于上颌骨缺陷、耳聋、近视和易出现多种并发症的白内障所致。还描述了另外一个病例，与马歇尔家族的病例更为相似；她耳聋但没有白内障。
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