Acrofacial dysostosis suggesting Nager syndrome in newborn – Diagnostic and therapeutic difficulties

Abstract

Introduction: Acrofacial dysostoses are a clinically heterogeneous group which encompasses malformations of the craniofacial skeleton and the limbs. Up to now approximately 100 cases of Nager syndrome have been published. Patients with Nager syndrome are found worldwide among all racial and ethnic groups. Case report: We describe the case of a male newborn who was referred to the Neonatology Department with congenital anomaly syndrome. The patient was born at 40 weeks of gestation by c-section. Craniofacial anomalies that the patient presents include microphthalmia, downslanting of palpebral fissures, micrognathia, retrognathia, high-arched palate, hypoplastic soft palate, hypoplasia of zygomatic bone and dysplastic ears. There were also anomalies of the upper limb – radial dysplasia, radio-ulnar synostosis and abnormalities of the digits, as well as coexisting bone abnormalities in the lower limbs such as pes planus, gap between the big toe and the second toe and a hypoplastic overlapping fourth toe. The observed clinical features in our patient resembled Nager syndrome. The final diagnosis however needs to be confirmed by the identification of a mutation in SF3B4. Conclusions: Nager syndrome is a rare disease with craniofacial and preaxial limb involvement. The quality of life of patients with Nager syndrome can be improved by an early diagnosis. A proper prenatal screening allows to perform differential diagnosis (from Treacher Collins, Miller, Pierre-Robin sequence and Roberts syndromes) before birth and prepare the parents for the upcoming challenges.