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两例同胞患儿出现腓骨和尺骨缺如、少指(趾)畸形、挛缩、股骨直角弯曲、面部形态异常、唇腭裂及脑畸形:一种可能的新型致死性综合征。

Absence of fibula and ulna with oligodactyly, contractures, right-angle bowing of femora, abnormal facial morphology, cleft lip/palate and brain malformation in two sibs: a possibly new lethal syndrome.

作者信息

Pfeiffer R A, Stöss H, Voight H J, Wündisch G F

机构信息

Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Bayreuth, Federal Republic of Germany.

出版信息

Am J Med Genet. 1988 Apr;29(4):901-8. doi: 10.1002/ajmg.1320290422.

Abstract

Absence of fibulae, and unilateral absence of ulna, associated with lateral oligodactyly, and rectangular bowing of the femora are the prominent features of a lethal syndrome studied in two children of related parents. Other malformations are cleft lip and palate and posterior midline abnormalities of the brain. One similar though not identical MCA-syndrome was reported. The literature is reviewed with respect to ulno-fibular malformations.

摘要

腓骨缺如、单侧尺骨缺如、伴有外侧少指畸形以及股骨呈矩形弯曲,是在一对有亲缘关系父母的两个孩子中所研究的一种致死性综合征的突出特征。其他畸形包括唇腭裂和脑后部中线异常。曾报道过一种相似但不完全相同的MCA综合征。就尺骨-腓骨畸形方面对文献进行了综述。

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