Management of pregnancy in a woman with a new diagnosis of pycnodysostosis: A case report

Pycnodysostosis is a rare autosomal recessive skeletal dysplasia resulting in short stature, characteristic facial features and long-bone fractures. Given its rarity, there is minimal information in the medical literature on management of pregnancies in women affected by pycnodysostosis. This report describes the antenatal, intrapartum and postnatal care of a 28-year-old nulliparous woman with a new diagnosis of pycnodysostosis during pregnancy. Throughout her care, involvement was sought from the moving and handling team, anaesthetics, geneticists and obstetricians to allow anticipation of potential complications. Mode of delivery was discussed, with a joint decision to opt for an elective caesarean section under regional anaesthesia at 37 weeks of gestation. In the postnatal period, the patient's recovery was complicated by a long-bone fracture, a recognised and important risk of pycnodysostosis. The report reflects on steps taken to mitigate fracture risk. However, the fall precipitating the fracture was the patient's own home, where she had lived for several years, and was therefore unforeseeable. This case highlights the importance both of a multidisciplinary approach and thorough antenatal care planning for women with rare and complex conditions in pregnancy, and of the risk of long-bone fracture in the postnatal period in women with pycnodysostosis. The report aims to increase awareness of this condition and provide an approach for the management of other women with pycnodysostosis.