Dalvi Vrushali, Dhok Avinash, Onkar Prashant, Mitra Kajal, Ladke Pooja
Department of Radiodiagnosis, NKP Salve Institute of Medical Sciences and Research Center & Lata Mangeshkar Hospital, Nagpur, IND.
Cureus. 2022 Dec 22;14(12):e32849. doi: 10.7759/cureus.32849. eCollection 2022 Dec.
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.
先天性肢体畸形的出生频率为每1000例中有0.55例，是极为罕见的产前缺陷，可表现为部分或完全缺失一个肢体或肢体的特定部分。无肢畸形是一种散发性异常，定义为肢体骨骼成分完全缺失，而短肢畸形则定义为肢体骨骼成分发育不完全。我们报告一例新生儿，其面部严重畸形，表现为双耳缺失和鞍鼻。可见右下肢芽缺失。左下肢发育不全，仅在大腿区域可见，小腿远端发育不良且足部缺失。生殖器和肛门缺失。据我们所知，该病例很特殊，因为出生时即存在先天性肢体异常并伴有生殖器发育不全。
