PDF(Pubmed)
Abstract：
Congenital limb deformities, with a birth frequency of 0.55 per 1,000, are extremely rare prenatal defects that can present with either partial or complete lack of a limb or a specific portion of a limb. Amelia is a sporadic anomaly that is defined by the complete absence of a limb\'s skeletal elements, whereas hypomelia is defined by the incomplete development of a limb\'s skeletal elements. We present the case of a neonate with gross facial deformities in the form of the absence of both external ears and a saddle-shaped nose. The absence of the right lower limb bud was seen. The left lower limb was underdeveloped, noted only up to the thigh region with the hypoplastic distal part of the leg and absent foot. Genitals and the anus were absent. To the best of our knowledge, this case is exceptional in that congenital limb abnormalities are present at birth along with accompanying genital underdevelopment.
摘要：
先天性肢体畸形，出生频率为0.55/1000，是极为罕见的产前缺陷，可以表现为部分或完全缺乏肢体或肢体的特定部分。Amelia是一种零星的异常，定义为完全没有肢体的骨骼元素，而缺盐是由肢体骨骼元素的不完全发育定义的。我们介绍了一例新生儿的面部畸形，表现为没有外耳和鞍形鼻子。可见右下肢芽的缺失。左下肢发育不全,仅注意到大腿区域，腿部远端发育不良，脚缺位。生殖器和肛门缺失。据我们所知,这种情况是特殊的，因为出生时存在先天性肢体异常，并伴有生殖器发育不全。
