Khalifa M M, Cappon S, Soboleski D, Armstrong D
Department of Pediatrics, Queen's University and Kingston General Hospital, Kingston, Ontario, Canada.
Am J Med Genet. 2002 Jan 22;107(3):237-42. doi: 10.1002/ajmg.10136.
We describe three Canadian brothers of Cree origin, with a previously undescribed pattern of malformation including distinctive craniofacial abnormalities with triangular facies, hypertelorism, low-set and posteriorly rotated ears, ocular colobomas, ptosis, brachycephaly with widely separated sutures, cleft soft palate, undescended testes, bifid scrotum and hypospadius, wide webbed neck, webbed fingers, pectus excavatum and hypersegmented sternum, and severe psychomotor retardation. The presence of normal brain imaging and physical growth distinguishes them from other syndromes with overlapping abnormalities. This is either an X-linked or autosomal recessive condition.
我们描述了三名具有克里族血统的加拿大兄弟，他们有着一种此前未被描述过的畸形模式，包括独特的颅面异常，如三角形面容、眼距过宽、耳朵低位且向后旋转、眼裂、上睑下垂、囟门宽且头短而宽、软腭裂、隐睾、阴囊裂和尿道下裂、宽蹼颈、蹼指、漏斗胸和胸骨节段过多，以及严重的精神运动发育迟缓。正常的脑部影像学检查结果和身体生长情况使他们有别于其他具有重叠异常的综合征。这是一种X连锁或常染色体隐性疾病。
