VP10.23: Pregnant Women and Fetus Affected by Cleidocranial Dysplasia: a Case Report

CCD is an autosomal dominant skeletal disorder with an incidence of 1 in 200000 live births. CCD is caused by mutations in the human osteoblast-specific transcription factor gene (RUNX2). Genetic diagnosis is not essential to confirm clinical diagnosis in all cases. There is no evidence of the mode of delivery in cases with the mother and fetus affected by this disease. A higher rate of Caesarean sections has been described in pregnant women due to pelvic-cephalic disproportion. Here we present a case report with an uncomplicated vaginal delivery. A 24-year-old woman, gravida 2 abortion 1, with a personal history of hypoplastic clavicles, large fontanelles, supernumerary teeth and scoliosis. Her father and grandfather had been diagnosed previously with cleidocranial dysplasia (CCD). A genetic study was not performed to confirm clinical diagnosis. At the 20-week scan, we observed that the female fetus had widening of the coronal suture, a large anterior fontanelle, a prominent forehead and absence of the fetal nasal bones. We also observed hypoplastic clavicles with agenesis at the acromial extremity. The remainder of the fetal anatomy was normal and biometry was appropriate for gestational age, including the length of the long bones. Amniocentesis was offered for genetic study but the patient refused. During follow up, we observed persistent abnormalities. At 29+2 weeks, fetal neurosonography was normal. At 33+5 weeks, we observed persistent anatomy anomalies with brachycephaly and a mild polyhydramnios. In our hospital, we have not seen any cases involving pregnant women and fetus with CCD until now. We decided to avoid an operative vaginal delivery. We induced labour at week 41+6 due to prolonged gestation. An uncomplicated vaginal delivery occurred. A 3220g female newborn with Apgar 2/5/9 was born. Finally, the diagnosis of CCD was clinically confirmed at birth. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.