Khalatkar Pragati, Khalatkar Vasant, Khalatkar Aishwarya
Colors Children Hospital, Panchasheel Sqr., Nagpur, 440001 India.
R-29, Khalatkar Hospital, Umred Road, Nagpur, 440009 India.
J Obstet Gynaecol India. 2019 Apr;69(Suppl 1):10-13. doi: 10.1007/s13224-018-1099-3. Epub 2018 Feb 17.
Sirenomelia, also known as mermaid syndrome, is a very rare fatal congenital abnormality in which the legs are fused together, giving them the appearance of a mermaid's tail. It is commonly associated with abnormal kidney development, genital and rectal abnormalities. Only a handful of cases have been reported in other parts of the world and is very rare in India too. This case was diagnosed postnatal in a tertiary hospital in Nagpur city of central India.
A preterm male baby of weight 1.1 kg was delivered by lower-segment caesarean section to a primigravida of age 26 years. Baby presented with fusion of the entire lower limbs, imperforate anus, indiscernible genital structures, single umbilical artery and a neural tube defect. He cried spontaneously with APGAR scores 5 at 0 and 8 at 5 min and expired after 4 h. His mother had a family history of diabetes in her paternal side. The post-mortem chromosomal studies depicted 47XXY, i.e., Klinefelter's syndrome.
Sirenomelia is a rare occurrence and this case gives us valuable information about the clinical presentation of it at birth and subsequent post-mortem chromosomal findings could indicate a possible genetic association.
并腿畸形,也被称为美人鱼综合征,是一种极为罕见的致命先天性异常疾病,其特征是双腿融合在一起,形似美人鱼的尾巴。它通常与肾脏发育异常、生殖器和直肠畸形相关。世界其他地区仅报道过少数病例,在印度也极为罕见。该病例是在印度中部那格浦尔市的一家三级医院产后确诊的。
一名体重1.1千克的早产男婴通过下段剖宫产出生,其母亲为26岁的初产妇。婴儿表现为整个下肢融合、肛门闭锁、生殖器结构难以辨认、单脐动脉以及神经管缺陷。他出生时自发啼哭,阿氏评分1分钟时为5分,5分钟时为8分,4小时后死亡。其母亲的父系家族有糖尿病家族史。尸检染色体研究显示为47XXY,即克兰费尔特综合征。
并腿畸形实属罕见,该病例为我们提供了有关其出生时临床表现的宝贵信息,而后续的尸检染色体结果可能表明存在一种潜在的遗传关联。