title: Pregnancy in a woman with proportionate (primordial) dwarfism: a case report and literature review.
abstract: Primordial dwarfism is a rare form of severe proportionate dwarfism which poses significant challenges in pregnancy. A 27-year-old with primordial dwarfism (height 97 cm, weight 22 kg) and coexisting morbidities of familial hypercholesterolaemia and hypertension presented to our unit. Early pregnancy was complicated by difficult blood pressure control, sinus tachycardia, biochemical hyperthyroidism and insulin-requiring gestational diabetes. Delivery was indicated at 24 weeks with uncontrollable hypertension, progressive renal impairment and intrauterine growth restriction. A caesarean section was performed under general anaesthesia, resulting in the delivery of a 486 g male infant. This case highlights the difficulties of managing pregnancy in a woman with primordial dwarfism. Her limited capacity to respond to the physiological demands of pregnancy created a life-threatening situation, culminating in profound preterm birth.
authors: Department of Perinatal Medicine, Mercy Hospital for Women , 163 Studley Road, Heidelberg, VIC 3084.
authors: C E
authors: CE
authors: Vance
authors: Department of Perinatal Medicine, Mercy Hospital for Women, 163 Studley Road, Heidelberg, VIC 3084; Austin Health, Heidelberg.
authors: M
authors: M
authors: Desmond
authors: Department of Perinatal Medicine, Mercy Hospital for Women , 163 Studley Road, Heidelberg, VIC 3084.
authors: A
authors: A
authors: Robinson
authors: Department of Perinatal Medicine, Mercy Hospital for Women, 163 Studley Road, Heidelberg, VIC 3084; Austin Health, Heidelberg.
authors: J
authors: J
authors: Johns
authors: Department of Endocrinology, Royal Children's Hospital.
authors: M
authors: M
authors: Zacharin
authors: Department of Paediatrics, Victorian Clinical Genetics Service, University of Melbourne , Parkville.
authors: R
authors: R
authors: Savarirayan
authors: Department of Paediatrics, Mercy Hospital for Women , Heidelberg.
authors: K
authors: K
authors: König
authors: Austin Health , Heidelberg.
authors: S
authors: S
authors: Warrillow
authors: Department of Perinatal Medicine, Mercy Hospital for Women, 163 Studley Road, Heidelberg, VIC 3084; Department of Obstetrics and Gynaecology, University of Melbourne, Parkville, Australia.
authors: S P
authors: SP
authors: Walker
keywords: dwarf; dwarfism; pregnancy; primordial; proportionate; short stature; skeletal dysplasia