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双叉股骨与单指(趾)缺指(趾)畸形的家族性发生情况。

Familial occurrence of bifid femur and monodactylous ectrodactyly.

作者信息

Gollop T R, Lucchesi E, Martins R M, Nione A S

出版信息

Am J Med Genet. 1980;7(3):319-22. doi: 10.1002/ajmg.1320070313.

Abstract

Two brothers each had one normal upper limb; one had tridactylous ectrodactyly of one hand with normal forearm bones; the other had monodactyly of one hand with absent ipsilateral ulna. Both had monodactyly of the feet, absence of the tibiae, and unilateral bifurcation of the femur. A sister of the paternal grandfather was purportedly similarly affected. Since her parents and the father and paternal grandfather of the affected boys were normal, the pattern of inheritance of the trait in this family is presently unclear.

摘要

两兄弟各有一只正常的上肢;其中一人一只手有三指缺指畸形,前臂骨骼正常;另一人一只手有单指畸形,同侧尺骨缺失。两人双脚均有单指畸形,胫骨缺失,股骨单侧分叉。据称,祖父的一个姐妹也有类似症状。由于她的父母以及患病男孩的父亲和祖父都正常,目前这个家族中该性状的遗传模式尚不清楚。

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