Nokeaingtong Kwannapas, Kaewchai Sirirat, Visrutaratna Pannee, Khuwuthyakorn Varangthip
Department of Pediatrics, Chiang Mai University, Chiang Mai, Thailand.
Department of Pathology, Anatomical Pathology, Chiang Mai University, Chiang Mai, Thailand.
BMJ Case Rep. 2015 May 14;2015:bcr2014208501. doi: 10.1136/bcr-2014-208501.
Those born with sirenomelia, a rare congenital anomaly, have features resembling a mermaid. Characteristics of sirenomelia are a single lower limb, sacral and pelvic bone defects, and anorectal and urogenital malformations. There is an increased incidence of sirenomelia in males and twins. This case was a preterm male, dizygotic twin and product of in vitro fertilisation. The baby was born by caesarean section due to breech presentation. He was found to have a fused lower extremity and absent external genitalia and anus. The baby passed away shortly after birth due to severe respiratory failure. Radiographic findings showed small lung volume and pneumothoraces. There were multiple segmental fusions of the vertebrae. Single femur and single tibia were presented in a fused lower limb. Autopsy demonstrated large intestinal atresia, intra-abdominal testes, absence of kidney, ureter and bladder, single umbilical artery, agenesis of blood vessels at lower extremity and agenesis of sacrum and coccyx.
患有罕见先天性异常——美人鱼综合征的人,其特征类似美人鱼。美人鱼综合征的特点是单一下肢、骶骨和骨盆骨缺陷,以及肛门直肠和泌尿生殖系统畸形。男性和双胞胎中美人鱼综合征的发病率有所增加。该病例为一名早产男性,双卵双胞胎,通过体外受精孕育。因臀位分娩,婴儿通过剖宫产出生。发现其下肢融合,外生殖器和肛门缺失。婴儿出生后不久因严重呼吸衰竭死亡。影像学检查结果显示肺容积小和气胸。有多个节段性椎体融合。融合的下肢中有单一的股骨和胫骨。尸检显示有大肠闭锁、腹腔内睾丸、肾脏、输尿管和膀胱缺失、单脐动脉、下肢血管发育不全以及骶骨和尾骨发育不全。