Meckel Gruber Syndrome: Second trimester diagnosis of a case in a non-consanguineous marriage.
| Autor: | Alam A; Areej Alam, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan., Adhi M; Mehreen Adhi, Department of Ophthalmology, Tufts University School of Medicine, Boston, USA., Bano R; Raffat Bano, Department of Obs & Gyn, Aga Khan Hospital for Women, Karimabad, Karachi, Pakistan., Zubair A; Aisha Zubair, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan., Mushtaq A; Ammara Mushtaq, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan. |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Pakistan journal of medical sciences [Pak J Med Sci] 2013 Jan; Vol. 29 (1), pp. 234-6. |
| DOI: | 10.12669/pjms.291.2930 |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
| Externí odkaz: |
|