Areej Alam, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan.
Mehreen Adhi, Department of Ophthalmology, Tufts University School of Medicine, Boston, USA.
Pak J Med Sci. 2013 Jan;29(1):234-6. doi: 10.12669/pjms.291.2930.
Meckel-Gruber Syndrome (MKS) is a rare, autosomal recessive genetic disorder, incompatible with life. It is characterized by enlarged polycystic kidneys and post axial polydactyly. Foetal or neonatal death is caused by pulmonary hypoplasia. We report a case of a 35 year old woman who presented at 7 weeks of gestation of her sixth pregnancy. A transabdominal anomaly ultrasound performed for her current pregnancy at 18 weeks of gestation showed features consistent with MKS. The termination of pregnancy was declined and a live newborn female was delivered via an emergency caeserean section at 34 weeks of gestation due to previous history of lower segment caesarean section (LSCS) & leaking. Physical examination of the neonate confirmed the features of MKS. The neonate died within 4-5 hours of birth. This case represented a second trimester diagnosis of a recurrent case of MKS in a non-consanguineous marriage.
梅克尔-格鲁伯综合征（MKS）是一种罕见的常染色体隐性遗传疾病，无法存活。其特征为多囊肾和后轴多指（趾）。肺发育不全导致胎儿或新生儿死亡。我们报告了 1 例 35 岁女性，她在第 6 次妊娠的 7 周时就诊。为其当前妊娠在 18 周进行的经腹异常超声检查显示符合 MKS 的特征。由于先前有下段剖宫产术（LSCS）和漏产史，终止妊娠被拒绝，在 34 周时因紧急剖宫产分娩了 1 名活产女婴。新生儿体格检查证实了 MKS 的特征。新生儿在出生后 4-5 小时内死亡。该病例代表了非近亲婚姻中 MKS 复发性病例的中孕期诊断。
