Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males.
Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males.
复制标题
颅面骨骼综合征：一种 X 连锁显性疾病，男性早期致命。
DOI：
10.1002/ajmg.a.31928
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发表时间：
2007
期刊：
影响因子：
--
通讯作者：
Schwartz,CharlesE
中科院分区：
文献类型：
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作者：
Stevenson,RogerE;Brasington,CamK;Skinner,Cindy;Simensen,RichardJ;Spence,JEdward;Kesler,Shelli;Reiss,AllanL;Schwartz,CharlesE
在一个高加索家族的三代人中观察到一种多系统表现的综合征。7名女性的研究结果提供了一种复合临床表现，包括小头畸形、身材矮小、小后倾耳、鼻尖完全悬于鼻小柱、人中短、上唇薄、口角软组织赘生物、下颌骨小、手和脚小伴短指、指V型指、扁平足、指纹弓数量过多和认知功能轻度受损。两名男性受到更严重的影响，并在生命的最初几个月死亡。他们表现出宫内发育迟缓，宽颅缝和宽，fontanelles，心脏缺陷，小手和脚与异常的数字折痕和小指甲，生殖器异常。受影响的男性在新生儿期有低血清钙。雌性动物的血清钙、磷和甲状旁腺素水平正常。X光片显示长骨皮质增厚、额窦发育不全、骨盆狭窄和第五手指中指骨发育不全。脑部MRI显示脑体积轻微减少，上级颞区有额外的脑回。X失活研究显示，在两个受影响的女性几乎完全偏斜，但在其他三个没有信息。基于男性/女性中的不同严重程度，信息女性中X失活的完全偏斜，以及提示与Xq 26-q27中标记物连锁的lod评分（1.5），提出X连锁作为遗传模式。© 2007 Wiley利斯公司
A syndrome with multisystem manifestations has been observed in three generations of a Caucasian family. The findings in seven females provide a composite clinical picture of microcephaly, short stature, small retroverted ears, full tip of the nose overhanging the columella, short philtrum, thin upper lip, soft tissue excrescences at the angle of the mouth, small mandible, small hands and feet with brachydactyly, finger V clinodactyly, flat feet, an excessive number of fingerprint arches, and mild impairment of cognitive function. Two males were more severely affected and died in the initial months of life. They showed intrauterine growth retardation, broad cranium with wide sutures and fontanelles, cardiac defects, small hands and feet with abnormal digital creases and small nails, and genital abnormalities. The affected males had low serum calcium in the neonatal period. Serum calcium, phosphorous, and parathormone levels in the females were normal. Radiographs showed cortical thickening of the long bones, underdevelopment of the frontal sinuses, narrow pelvis and hypoplasia of the middle phalanx of finger five. MRI of the brain showed slightly reduced brain volumes and an extra gyrus of the superior temporal region. X‐inactivation studies showed near complete skewing in two affected females, but were not informative in three others. X‐linkage as the mode of inheritance is proposed on the basis of different severity in males/females, complete skewing of X‐inactivation in informative females, and a lod score (1.5) suggestive of linkage to markers in Xq26‐q27. © 2007 Wiley‐Liss, Inc.