P24.09: Pfeiffer type II syndrome diagnosed with three‐dimensional ultrasound and HD Live

Abstract

Pfeiffer syndrome is an autosomal dominant acrocephalosyndactyly with three clinical subtypes. Type 2 is usually a de novo mutation with poor prognosis. It consists of acrocephaly, craniosynostosis, cloverleaf skull, broad thumb and hallux, brachydactyly and variable syndactyly. Facial dysmorphism is prominent with ocular proptosis, hypertelorism and depressed nasal bridge. Various associated visceral malformations are often encountered. We present a case of prenatally diagnosed Pfeiffer syndrome Type 2 with three-dimensional ultrasound and HD Live. A 28 year-old gravida 1 was referred to our center at 28 w.g. with a suspicion of a polymalformation syndrome. The detailed fetal morphology survey revealed a viable fetus in breech presentation with a cloverleaf skull, semilobar holoprosencephaly, prominent facial dysmorphism - exophthalmos and hypertelorism, macroglossia, depressed nasal bridge, totally distorted spine, big thumb and hallux, associated with remarked IUGR and polyhydramnios. The prenatal diagnosis of Pfeiffer syndrome Type II was suspected. Due to the poor prognosis the patient opted for termination of pregnancy. The prenatal sonographic findings were confirmed at autopsy. Conclusion: Three-dimensional ultrasound with HD Live provides excellent visualisation of the fetal face. Thus, any pathological condition affecting the fetal face can be more easily identified and explained to the parents. Obviously, this improves the prenatal diagnosis process and delineates better the pregnancy management plan in selected cases.