A baby with low Apgar scores at birthBMJ 2016; 352 doi: https://doi.org/10.1136/bmj.i479 (Published 03 February 2016) Cite this as: BMJ 2016;352:i479
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Basic elements of the report are:
1. Placental abruption and breech presentation
2. Uterine rupture
3. Infant was found to be in the abdominal cavity after maternal uterine rupture.
4. Infant was diagnosed “Hypoxic ischaemic encephalopathy “
Uterine rupture was mentioned briefly with no further details regarding the maternal phenotype, history of illnesses, and or family history. But, nevertheless, by combining the above mentioned risk factors and complications, we can assume that the overall clinical history of the mother and her baby was in favor of a connective tissue disorder which are divided into various distinguishable phenotypes. The Placental abruption and the increased risk of malpresentation (breech), plus the uterine rupture are determintal factors for potential obstetric risks mostly encountered in patients with Ehlers Danlos syndrome type IV (EDS). In this vascualr type of EDS (a subtype of collagen which is a structural component of arterial walls, GIT, and the uterus) is defective. And most complications during pregnancy involve a long list of complications e.g great vessel rupture, uterine rupture, cerebral haemarrhage, etc. The maternal mortality rate has been found to be as high as 20-30%, which makes the case for counselling women, in some instances, not to get pregnant. The vascular type of EDS is caused by structural defects in the Proa1(III) chain of collagen III encoded by COL3A1. A skin biopsy can diagnose this type of EDS. Babies with perinatal complications should be managed in connection with maternal/paternal health status and not in isolation.
Competing interests: No competing interests