Pfeiffer R A, Stöss H, Voight H J, Wündisch G F
Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nürnberg, Bayreuth, Federal Republic of Germany.
Am J Med Genet. 1988 Apr;29(4):901-8. doi: 10.1002/ajmg.1320290422.
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.
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。