Possible autosomal recessive inheritance in a neonate with Nager syndrome: Case report

Abstract

Introduction and importance Nager syndrome is a rare inherited disorder characterized by craniofacial malformations occurring in association with abnormalities of the thumb and radial parts of the forearm. Case presentation We presented a 18-day-old boy with Nager syndrome. The diagnosis based on his clinical presentation. He was born to non-consanguineous healthy parents. He had three deceased siblings who had similar clinical features. This family gave further evidence for autosomal recessive inheritance. Nager syndrome can be detected using prenatal screening ultrasound. Clinical discussion The etiology of Nager Syndrome is poorly described. Most cases arise spontaneously, although autosomal recessive and autosomal dominant modes of inheritance have been reported. Nager syndrome is suspected to have an autosomal recessive inheritance pattern, when unaffected parents have more than one affected child. Conclusion Treatment required the coordinated efforts of a team of specialists. Many manifestations of the disease can be improved by surgery and other supportive treatments.

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

“…it presents with malformation of the craniofacial skeleton associated with anomalies of the thumbs and forearm resulting from developmental disturbances of the first and second branchial arches and limb buds ( Abdollahi Fakhim et al, 2012 ; Petit et al, 2014 ). Craniofacial malformations include malar hypoplasia resulting in downward slanting palpebral fissures, lower eyelid colobomas, flat nasal bridge, maxillo-mandibular hypoplasia, micrognathia, microtia, dysplastic pinnae and conductive hearing loss ( Ibrahim and Eid, 2021 ; Petit et al, 2014 ). Nager syndrome arise from splicing factor 3B subunit 4 ( SF3B4) gene mutation mapped to chromosome 1q21 that codes for a protein linked with bone morphogenetic protein signaling ( Petit et al, 2014 ).…”

“…Imaging modalities often show detailed bone anomalies that are valuable adjuncts for diagnosis. Comprehensive management is also a multidisciplinary approach to address the wide array of associated deformities ( Ibrahim and Eid, 2021 ). Surgical intervention is indicated to correct the micrognathia and increase mandibular mobility ( Lin, 2012 ).…”